Everything you need to know about COVID-19 vaccines.

COVID-19, the potentially fatal respiratory illness first detected in December 2019, has spread across the globe,forcing the cancellation of major events, postponing sports seasons and sending many into self-imposed quarantine. As health authorities and governments attempt to slow the spread, researchers are focusing their attention on the coronavirus that causes the disease: SARS-CoV-2.

Since it was first discovered as the causative agent of the new disease, scientists have been racing to get a better understanding of the virus' genetic makeup, how it infects cells and how to effectively treat it. Currently there's no cure and medical specialists can only treat the symptoms of the disease. However, the long-term strategy to combat COVID-19, which has spread to every continent on Earth besides Antarctica, will be to develop a vaccine.

Developing new vaccines takes time and they must be rigorously tested and confirmed safe via clinical trials before they can be routinely used in humans. Anthony Fauci, director of the National Institute of Allergy and Infectious Diseases in the US, has commonly stated a vaccine is at least a year to 18 months away. Experts agree there's a ways to go yet.

Vaccines are incredibly important in the fight against disease. We've been able to keep a handful of viral diseases at bay for decades because of vaccine development. Even so, there exists confusion and unease about their usefulness. This guide explains what vaccines are, why they are so important and how scientists will use them in the fight against the coronavirus. As more candidates appear and are tested, we'll add them to this list, so bookmark this page and check back for the latest updates.

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A vaccine is a type of treatment aimed at stimulating the body's immune system to fight against infectious pathogens, like bacteria and viruses. They are,according to the World Health Organization, "one of the most effective ways to prevent diseases."

The human body is particularly resilient to disease, having evolved a natural defense system against nasty disease-causing microorganisms like bacteria and viruses. The defense system -- our immune system -- is composed of different types of white blood cells that can detect and destroy foreign invaders. Some gobble up bacteria, some produce antibodies which can tell the body what to destroy and take out the germs and other cells memorize what the invaders look like, so the body can respond quickly if they invade again.

Vaccines are a really clever fake-out. They make the body think it's infected so it stimulates this immune response. For instance, the measles vaccine tricks the body into thinking it has measles. When you are vaccinated for measles, your body generates a record of the measles virus. If you come into contact with it in the future, the body's immune system is primed and ready to beat it back before you can get sick.

The very first vaccine was developed by a scientist named Edward Jenner in the late 18th century. In a famous experiment, Jenner scraped pus from a milkmaid with cowpox -- a type of virus that causes disease mostly in cows and is very similar to the smallpox virus -- and introduced the pus into a young boy. The young boy became a little ill and had a mild case of cowpox. Later, Jenner inoculated the boy with smallpox, but he didn't get sick. Jenner's first injection of cowpox pus trained the boy's body to recognize the cowpox virus and, because its so similar to smallpox, the young man was able to fight it off and not get sick.

Vaccines have come an incredibly long way since 1796 though. Scientists certainly don't inject pus from patients into other patients and vaccines must abide by strict safety regulations, multiple rounds of clinical testing and strong governmental guidelines before they can be adopted for widespread use.

Vaccines contain a handful of different ingredients depending on their type and how they aim to generate an immune response. However, there's some commonality between them all.

The most important ingredient is the antigen. This is the part of the vaccine the body can recognize as foreign. Depending on the type of vaccine, an antigen could be molecules from viruses like a strand of DNA or a protein. It could instead be weakened versions of live viruses. For instance, the measles vaccine contains a weakened version of the measles virus. When a patient receives the measles vaccine, their immune system recognizes a protein present on the measles virus and learns to fight it off.

A second important ingredient is the adjuvant. An adjuvant works to amplify the immune response to an antigen. Whether a vaccine contains an adjuvant depends on the type of vaccine it is.

Some vaccines used to be stored in vials that could be used multiple times and, as such, contained preservatives that ensured they would be able to sit on a shelf without growing other nasty bacteria inside them. One such preservative is thimerosal which has garnered a lot of attention in recent times because it contains trace amounts of the easily-cleared ethylmercury. Its inclusion in vaccines has not been shown to cause harm, according to the CDC. In places like Australia, single-use vials are now common and thus preservatives such as thimerosal are no longer necessary in most vaccines.

In developing a vaccine for SARS-CoV-2, scientists need to find a viable antigen that will stimulate the body's immune system into defending against infection.

The pathogen at the center of the outbreak, SARS-CoV-2, belongs to the family of viruses known ascoronaviruses. This family is so named because, under a microscope, they appear with crown-like projections on their surface.

In developing a vaccine that targets SARS-CoV-2, scientists are looking at these projections intensely. The projections enable the virus to enter human cells where it can replicate and make copies of itself. Known as "spike proteins" or "S" proteins, researchers have been able to map the projections in 3Dand research suggests they could be a viable antigen in any coronavirus vaccine.

That's because the S protein is prevalent in coronaviruses we've battled in the past -- including the one that caused the SARS outbreak in China in 2002-2003. This has given researchers a head start on building vaccines against part of the S protein and, using animal models, have demonstrated they can generate an immune response.

There are many other companies across the world working on a SARS-CoV-2 vaccine, developing different ways to stimulate the immune system. Some of the most talked about approaches are those using a relatively novel type of vaccine known as a "nucleic acid vaccine." These vaccines are essentially programmable, containing a small piece of genetic code to act as the antigen.

Biotech companies like Moderna have been able to generate new vaccine designs against SARS-CoV-2 rapidly by taking a piece of the genetic code for the S protein and fusing it with fatty nanoparticles that can be injected into the body. Imperial College London is designing a similar vaccine using coronavirus RNA -- its genetic code. Pennsylvania biotech company Inovio is generating strands of DNA it hopes will stimulate an immune response. Although these kinds of vaccines can be created quickly, none have been brought to market yet.

Johnson & Johnson and French pharmaceutical giant Sanofi are both working with the US Biomedical Advanced Research and Development Authority to develop vaccines of their own. Sanofi's plan is to mix coronavirus DNA with genetic material from a harmless virus, whereas Johnson & Johnson will attempt to deactivate SARS-CoV-2, essentially switching off its ability to cause illness while ensuring it still stimulates the immune system.

Some research organizations, such as Boston Children's Hospital, are examining different kinds of adjuvants that will help amplify the immune response. This approach, according to the Harvard Gazette, will be targeted more towards the elderly, who don't respond as effectively when vaccinated. It's hoped that by studying adjuvants to boost a vaccine, the elderly will be able to be vaccinated with a mix of ingredients that can supercharge their immunity.

Anthony Fauci, director of the National Institute of Allergy and Infectious Diseases in the US, posits that a vaccine is at least a year and a half away, even though we're likely to see human trials start within the next month or two. This, according to a 60 Minutes interview with Fauci in March, is a fast turnaround.

"The good news is we did it more quickly than we've ever done it," Fauci told 60 Minutes in March. "The sobering news is that it's not ready for primetime, for what we're going through now."

Why does vaccine production take so long? There's a ton of steps involved and a lot of regulatory hurdles to jump through.

"For any medicine to be sold it needs to go through the standard process of clinical trials including phase 1 [to] 3 trials," says Bruce Thompson, dean of health at Swinburne University in Australia. "We need to ensure that the medicine is safe, will not do harm, and know how effective it is."

Scientists can't assume their vaccine design will just work -- they have to test, test and test again. They have to recruit thousands of people to ensure the safety of a vaccine and how useful it will be. The process can be broken down into six phases:

Traditionally then, it could take a decade or more for a new vaccine to go from design to approval. In addition, once the regulatory processes have concluded a vaccine is safe, the drug companies have to send production into overdrive, so they can manufacture enough of the vaccine to increase immunity in the wider population.

With SARS-CoV-2, the process is being expedited in some instances. As STATnews reports, the vaccine in development by Moderna has moved from design straight into Phase I clinical trials of it mRNA vaccine, skipping tests in animal models. Those tests will take place at Seattle's Kaiser Permanente Washington Health Instituteand patients are now being enrolled.

Until that time though, health workers, doctors and medical specialists must rely on current treatment options.

The best way to prevent illness is avoiding exposure. Those tips are below.

First: Antibiotics, medicine designed to fight bacteria, won't work on SARS-CoV-2, a virus. If you're infected, you will be asked to self-isolate, to prevent further spread of the disease, for 14 days. If symptoms escalate and you experience a shortness of breath, high fever and lethargy, you should seek medical care.

Treating cases of COVID-19 in the hospital is based on managing patient symptoms in the most appropriate way. For patients with severe disease adversely affecting the lungs, doctors place a tube into a patient's airway so that they can be connected to ventilators -- machines which help control breathing.

There are no specific treatments for COVID-19 as yet, though a number are in the works including experimental antivirals, which can attack the virus, and existing drugs targeted at other viruses like HIV which have shown some promise in treating COVID-19.

Remdesivir

Remdesivir, an experimental antiviral made by biotech firm Gilead Sciences, has garnered a lion's share of the limelight. The drug has been used in the US, China and Italy, but only on a "compassionate basis" -- essentially, this drug has not received approval but can be used outside of a clinical trial on critically ill patients. Remdesivir is not specifically designed to destroy SARS-CoV-2. Instead, it works by knocking out a specific piece of machinery in the virus, known as "RNA polymerase," which many viruses use to replicate. It has been shown as effective in human cells and mouse models in the past.

It's effectiveness is still being debated and much more rigorous study will be needed before this becomes a general treatment for SARS-CoV-2, if it does at all.

Other treatment options

A HIV medicine, Kaletra/Aluvia, has been used in China to treat COVID-19. According to a release by AbbVie, an Illinois-based pharmaceutical company, the treatment was provided as an experimental option for Chinese patients during "the early days" of fighting the virus. The company suggests it is collaborating with global health authorities including the CDC and WHO.

A drug that has been used to treat malaria for around 70 years, chloroquine, has been floated as a potential candidate. It appears to be able to block viruses from binding to human cells and getting inside them to replicate. It also stimulates the immune system. A letter to the editor in journal Nature on Feb. 4 showed chloroquine was effective in combating SARS-CoV-2. Another Chinese study emanating from Guangdong reports chloroquine improved patient outcomesand "might improve the success rate of treatment" and "shorten hospital stay."

It is not a good idea to rely on a vaccine to stop the spread of coronavirus because they are many months away. The best way to stop the spread, right now, is to continue practicing good personal hygiene and to limit interactions with others. "The best thing to do is the simple things like hand washing and hand sanitizing," notes Thompson.

This outbreak is unprecedented and changing behaviors is absolutely critical to stopping the spread.

There are a huge number of resources available from the WHO on protecting yourself against infection. It's clear the virus can spread from person-to-person and transmission in communities has occurred across the world. Protection boils down to a few key things:

For much more information, you can head to CNET's guide

Read more:

Coronavirus vaccines and treatment: Everything you need to know - CNET

Please note that this article includes an image of human remains.

A friend of mine with Central American, Southern European, and West African ancestry is lactose intolerant. Drinking milk products upsets her stomach, and so she avoids them. About a decade ago, because of her low dairy intake, she feared that she might not be getting enough calcium, so she asked her doctor for a bone density test. He responded that she didnt need one because blacks do not get osteoporosis.

My friend is not alone. The view that black people dont need a bone density test is a longstanding and common myth. A 2006 study in North Carolina found that out of 531 African American and Euro-American women screened for bone mineral density, only 15 percent were African American womendespite the fact that African American women made up almost half of that clinical population. A health fair in Albany, New York, in 2000, turned into a ruckus when black women were refused free osteoporosis screening. The situation hasnt changed much in more recent years.

Meanwhile, FRAX, a widely used calculator that estimates ones risk of osteoporotic fractures, is based on bone density combined with age, sex, and, yes, race. Race, even though it is never defined or demarcated, is baked into the fracture risk algorithms.

Lets break down the problem.

First, presumably based on appearances, doctors placed my friend and others into a socially defined race box called black, which is a tenuous way to classify anyone.

Race is a highly flexible way in which societies lump people into groups based on appearance that is assumed to be indicative of deeper biological or cultural connections. As a cultural category, the definitions and descriptions of races vary. Color lines based on skin tone can shift, which makes sense, but the categories are problematic for making any sort of scientific pronouncements.

Second, these medical professionals assumed that there was a firm genetic basis behind this racial classification, which there isnt.

Third, they assumed that this purported racially defined genetic difference would protect these women from osteoporosis and fractures.

The view that black people dont need a bone density test is a longstanding and common myth.

Some studies suggest that African American womenmeaning women whose ancestry ties back to Africamay indeed reach greater bone density than other women, which could be protective against osteoporosis. But that does not mean being blackthat is, possessing an outward appearance that is socially defined as blackprevents someone from getting osteoporosis or bone fractures. Indeed, this same research also reports that African American women are more likely to die after a hip fracture. The link between osteoporosis risk and certain racial populations may be due to lived differences such as nutrition and activity levels, both of which affect bone density.

But more important: Geographic ancestry is not the same thing as race. African ancestry, for instance, does not tidily map onto being black (or vice versa). In fact, a 2016 study found wide variation in osteoporosis risk among women living in different regions within Africa. Their genetic risks have nothing to do with their socially defined race.

When medical professionals or researchers look for a geneticcorrelateto race, they are falling into a trap: They assume thatgeographic ancestry, which does indeed matter to genetics, can be conflated with race, which does not. Sure, different human populations living in distinct places may statistically have different genetic traitssuch as sickle cell trait (discussed below)but such variation is about local populations (people in a specific region), not race.

Like a fish in water, weve all been engulfed by the smog of thinking that race is biologically real. Thus, it is easy to incorrectly conclude that racial differences in health, wealth, and all manner of other outcomes are the inescapable result of genetic differences.

The reality is that socially defined racial groups in the U.S. and most everywhere else do differ in outcomes. But thats not due to genes. Rather, it is due to systemic differences in lived experience and institutional racism.

Communities of color in the United States, for example, often have reduced access to medical care, well-balanced diets, and healthy environments. They are often treated more harshly in their interactions with law enforcement and the legal system. Studies show that they experience greater social stress, including endemic racism, that adversely affects all aspects of health. For example, babies born to African American women are more than twice as likely to die in their first year than babies born to non-Hispanic Euro-American women.

Systemic racism leads to different health outcomes for various populations. The infant mortality rate, for example, for African American infants is double that for European Americans. Kelly Lacy/Pexels

As a professor of biological anthropology, I teach and advise college undergraduates. While my students are aware of inequalities in the life experiences of different socially delineated racial groups, most of them also think that biological races are real things. Indeed, more than half of Americans still believe that their racial identity is determined by information contained in their DNA.

For the longest time, Europeans thought that the sun revolved around the Earth. Their culturally attuned eyes saw this as obvious and unquestionably true. Just as astronomers now know thats not true, nearly all population geneticists know that dividing people into races neither explains nor describes human genetic variation.

Yet this idea of race-as-genetics will not die. For decades, it has been exposed to the sunlight of facts, but, like a vampire, it continues to suck bloodnot only surviving but causing harm in how it can twist science to support racist ideologies. With apologies for the grisly metaphor, it is time to put a wooden stake through the heart of race-as-genetics. Doing so will make for better science and a fairer society.

In 1619, the first people from Africa arrived in Virginia and became integrated into society. Only after African and European bond laborers unified in various rebellions did colony leaders recognize the need to separate laborers. Race divided indentured Irish and other Europeans from enslaved Africans, and reduced opposition by those of European descent to the intolerable conditions of enslavement. What made race different from other prejudices, including ethnocentrism (the idea that a given culture is superior), is that it claimed that differences were natural, unchanging, and God-given. Eventually, race also received the stamp of science.

Swedish taxonomist Carl Linnaeus divided humanity up into racial categories according to his notion of shared essences among populations, a concept researchers now recognize has no scientific basis. Wikimedia Commons

Over the next decades, Euro-American natural scientists debated the details of race, asking questions such as how often the races were created (once, as stated in the Bible, or many separate times), the number of races, and their defining, essential characteristics. But they did not question whether races were natural things. They reified race, making the idea of race real by unquestioning, constant use.

In the 1700s, Carl Linnaeus, the father of modern taxonomy and someone not without ego, liked to imagine himself as organizing what God created. Linnaeus famously classified our own species into races based on reports from explorers and conquerors.

The race categories he created included Americanus, Africanus, and even Monstrosus (for wild and feral individuals and those with birth defects), and their essential defining traits included a biocultural mlange of color, personality, and modes of governance. Linnaeus described Europeaus as white, sanguine, and governed by law, and Asiaticus as yellow, melancholic, and ruled by opinion. These descriptions highlight just how much ideas of race are formulated by social ideas of the time.

In line with early Christian notions, these racial types were arranged in a hierarchy: a great chain of being, from lower forms to higher forms that are closer to God. Europeans occupied the highest rungs, and other races were below, just above apes and monkeys.

So, the first big problems with the idea of race are that members of a racial group do not share essences, Linnaeus idea of some underlying spirit that unified groups, nor are races hierarchically arranged. A related fundamental flaw is that races were seen to be static and unchanging. There is no allowance for a process of change or what we now call evolution.

There have been lots of efforts since Charles Darwins time to fashion the typological and static concept of race into an evolutionary concept. For example, Carleton Coon, a former president of the American Association of Physical Anthropologists, argued in The Origin of Races (1962) that five races evolved separately and became modern humans at different times.

One nontrivial problem with Coons theory, and all attempts to make race into an evolutionary unit, is that there is no evidence. Rather, all the archaeological and genetic data point to abundant flows of individuals, ideas, and genes across continents, with modern humans evolving at the same time, together.

In this map, darker colors correspond to regions in which people tend to have darker skin pigmentation. Reproduced with permission from Dennis ONeil.

A few pundits such as Charles Murray of the American Enterprise Institute and science writers such as Nicholas Wade, formerly of The New York Times, still argue that even though humans dont come in fixed, color-coded races, dividing us into races still does a decent job of describing human genetic variation. Their position is shockingly wrong. Weve known for almost 50 years that race does not describe human genetic variation.

In 1972, Harvard evolutionary biologist Richard Lewontin had the idea to test how much human genetic variation could be attributed to racial groupings. He famously assembled genetic data from around the globe and calculated how much variation was statistically apportioned within versus among races. Lewontin found that only about 6 percent of genetic variation in humans could be statistically attributed to race categorizations. Lewontin showed that the social category of race explains very little of the genetic diversity among us.

Furthermore, recent studies reveal that the variation between any two individuals is very small, on the order of one single nucleotide polymorphism (SNP), or single letter change in our DNA, per 1,000. That means that racial categorization could, at most, relate to 6 percent of the variation found in 1 in 1,000 SNPs. Put simply, race fails to explain much.

In addition, genetic variation can be greater within groups that societies lump together as one race than it is between races. To understand how that can be true, first imagine six individuals: two each from the continents of Africa, Asia, and Europe. Again, all of these individuals will be remarkably the same: On average, only about 1 out of 1,000 of their DNA letters will be different. A study by Ning Yu and colleagues places the overall difference more precisely at 0.88 per 1,000.

The circles in this diagram represent the relative size and overlap in genetic variation in three human populations. The African population circle (blue) is largest because it contains the most genetic diversity. Genetic diversity in European (orange) and Asian (green) populations is a subset of the variation in Africa. Reproduced by permission of the American Anthropological Association.Adapted from the original, which appeared in the book RACE.Not for sale or further reproduction.

The researchers further found that people in Africa had less in common with one another than they did with people in Asia or Europe. Lets repeat that: On average, two individuals in Africa are more genetically dissimilar from each other than either one of them is from an individual in Europe or Asia.

Homo sapiens evolved in Africa; the groups that migrated out likely did not include all of the genetic variation that built up in Africa. Thats an example of what evolutionary biologists call the founder effect, where migrant populations who settle in a new region have less variation than the population where they came from.

Genetic variation across Europe and Asia, and the Americas and Australia, is essentially a subset of the genetic variation in Africa. If genetic variation were a set of Russian nesting dolls, all of the other continental dolls pretty much fit into the African doll.

What all these data show is that the variation that scientistsfrom Linnaeus to Coon to the contemporary osteoporosis researcherthink is race is actually much better explained by a populations location. Genetic variation is highly correlated to geographic distance. Ultimately, the farther apart groups of people are from one another geographically, and, secondly, the longer they have been apart, can together explain groups genetic distinctions from one another. Compared to race, those factors not only better describe human variation, they invoke evolutionary processes to explain variation.

Those osteoporosis doctors might argue that even though socially defined race poorly describes human variation, it still could be a useful classification tool in medicine and other endeavors. When the rubber of actual practice hits the road, is race a useful way to make approximations about human variation?

When Ive lectured at medical schools, my most commonly asked question concerns sickle cell trait. Writer Sherman Alexie, a member of the Spokane-Coeur dAlene tribes, put the question this way in a 1998 interview: If race is not real, explain sickle cell anemia to me.

In sickle cell anemia, red blood cells take on an unusual crescent shape that makes it harder for the cells to pass through small blood vessels. Mark Garlick/Science Photo Library/AP Images

OK! Sickle cell is a genetic trait: It is the result of an SNP that changes the amino acid sequence of hemoglobin, the protein that carries oxygen in red blood cells. When someone carries two copies of the sickle cell variant, they will have the disease. In the United States, sickle cell disease is most prevalent in people who identify as African American, creating the impression that it is a black disease.

Yet scientists have known about the much more complex geographic distribution of sickle cell mutation since the 1950s. It is almost nonexistent in the Americas, most parts of Europe and Asiaand also in large swaths of Northern and Southern Africa. On the other hand, it is common in West-Central Africa and also parts of the Mediterranean, Arabian Peninsula, and India. Globally, it does not correlate with continents or socially defined races.

In one of the most widely cited papers in anthropology, American biological anthropologist Frank Livingstone helped to explain the evolution of sickle cell. He showed that places with a long history of agriculture and endemic malaria have a high prevalence of sickle cell trait (a single copy of the allele). He put this information together with experimental and clinical studies that showed how sickle cell trait helped people resist malaria, and made a compelling case for sickle cell trait being selected for in those areas. Evolution and geography, not race, explain sickle cell anemia.

What about forensic scientists: Are they good at identifying race? In the U.S., forensic anthropologists are typically employed by law enforcement agencies to help identify skeletons, including inferences about sex, age, height, and race. The methodological gold standards for estimating race are algorithms based on a series of skull measurements, such as widest breadth and facial height. Forensic anthropologists assume these algorithms work.

Skull measurements are a longstanding tool in forensic anthropology. Internet Archive Book Images/Flickr

The origin of the claim that forensic scientists are good at ascertaining race comes from a 1962 study of black, white, and Native American skulls, which claimed an 8090 percent success rate. That forensic scientists are good at telling race from a skull is a standard trope of both the scientific literature and popular portrayals. But my analysis of four later tests showed that the correct classification of Native American skulls from other contexts and locations averaged about two incorrect for every correct identification. The results are no better than a random assignment of race.

Thats because humans are not divisible into biological races. On top of that, human variation does not stand still. Race groups are impossible to define in any stable or universal way. It cannot be done based on biologynot by skin color, bone measurements, or genetics. It cannot be done culturally: Race groupings have changed over time and place throughout history.

Science 101: If you cannot define groups consistently, then you cannot make scientific generalizations about them.

Wherever one looks, race-as-genetics is bad science. Moreover, when society continues to chase genetic explanations, it misses the larger societal causes underlying racial inequalities in health, wealth, and opportunity.

To be clear, what I am saying is that human biogenetic variation is real. Lets just continue to study human genetic variation free of the utterly constraining idea of race. When researchers want to discuss genetic ancestry or biological risks experienced by people in certain locations, they can do so without conflating these human groupings with racial categories. Lets be clear that genetic variation is an amazingly complex result of evolution and mustnt ever be reduced to race.

Similarly, race is real, it just isnt genetic. Its a culturally created phenomenon. We ought to know much more about the process of assigning individuals to a race group, including the category white. And we especially need to know more about the effects of living in a racialized world: for example, how a societys categories Race is real, it just isnt genetic. Its a culturally created phenomenon.and prejudices lead to health inequalities. Lets be clear that race is a purely sociopolitical construction with powerful consequences.

It is hard to convince people of the dangers of thinking race is based on genetic differences. Like climate change, the structure of human genetic variation isnt something we can see and touch, so it is hard to comprehend. And our culturally trained eyes play a trick on us by seeming to see race as obviously real. Race-as-genetics is even more deeply ideologically embedded than humanitys reliance on fossil fuels and consumerism. For these reasons, racial ideas will prove hard to shift, but it is possible.

Over 13,000 scientists have come together to formand publicizea consensus statement about the climate crisis, and that has surely moved public opinion to align with science. Geneticists and anthropologists need to do the same for race-as-genetics. The recent American Association of Physical Anthropologists Statement on Race & Racism is a fantastic start.

In the U.S., slavery ended over 150 years ago and the Civil Rights Law of 1964 passed half a century ago, but the ideology of race-as-genetics remains. It is time to throw race-as-genetics on the scrapheap of ideas that are no longer useful.

We can start by getting my friendand anyone else who has been deniedthat long-overdue bone density test.

More:

Race Is Real, But It's Not Genetic - SAPIENS

Mar 12th 2020

THE ATOMIC bomb convinced politicians that physics, though not readily comprehensible, was important, and that physicists should be given free rein. In the post-war years, particle accelerators grew from the size of squash courts to the size of cities, particle detectors from the scale of the table top to that of the family home. Many scientists in other disciplines looked askance at the money devoted to this big science and the vast, impersonal collaborations that it brought into being. Some looked on in envy. Some made plans.

The idea that sequencing the whole human genome might provide biology with some big science of its own first began to take root in the 1980s. In 1990 the Human Genome Project was officially launched, quickly growing into a global endeavour. Like other fields of big science it developed what one of the programmes leaders, the late John Sulston, called a tradition of hyperbole. The genome was Everest; it was the Apollo programme; it was the ultimate answer to that Delphic injunction, know thyself. And it was also, in prospect, a cornucopia of new knowledge, new understanding and new therapies.

By the time the completion of a (rather scrappy) draft sequence was announced at the White House in 2000, even the politicians were drinking the Kool-Aid. Tony Blair said it was the greatest breakthrough since antibiotics. Bill Clinton said it would revolutionise the diagnosis, prevention and treatment of most, if not all, human diseases. In coming years, doctors increasingly will be able to cure diseases like Alzheimers, Parkinsons, diabetes and cancer by attacking their genetic roots.

Such hype was always going to be hard to live up to, and for a long time the genome project failed comprehensively, prompting a certain Schadenfreude among those who had wanted biology kept small. The role of genetics in the assessment of peoples medical futures continued to be largely limited to testing for specific defects, such as the BRCA1 and BRCA2 mutations which, in the early 1990s, had been found to be responsible for some of the breast cancers that run in families.

To understand the lengthy gap between the promise and the reality of genomics, it is important to get a sense of what a genome really is. Although sequencing is related to an older technique of genetic analysis called mapping, it produces something much more appropriate to the White House kitchens than to the Map Room: a recipe. The genes strung out along the genomes chromosomesbig molecules of DNA, carefully packedare descriptions of lifes key ingredients: proteins. Between the genes proper are instructions as to how those ingredients should be used.

If every gene came in only one version, then that first human genome would have been a perfect recipe for a person. But genes come in many varietiesjust as chilies, or olive oils, or tinned anchovies do. Some genetic changes which are simple misprints in the ingredients specification are bad in and of themselvesjust as a meal prepared with fuel oil instead of olive oil would be inedible. Others are problematic only in the context of how the whole dish is put together.

The most notorious of the genes with obvious impacts on health were already known before the genome was sequenced. Thus there were already tests for cystic fibrosis and Huntingtons disease. The role of genes in common diseases turned out to be a lot more involved than many had naively assumed. This made genomics harder to turn into useful insight.

Take diabetes. In 2006 Francis Collins, then head of genome research at Americas National Institutes of Health, argued that there were more genes involved in diabetes than people thought. Medicine then recognised three such genes. Dr Collins thought there might be 12. Today the number of genes with known associations to type-2 diabetes stands at 94. Some of these genes have variants that increase a persons risk of the disease, others have variants that lower that risk. Most have roles in various other processes. None, on its own, amounts to a huge amount of risk. Taken together, though, they can be quite predictivewhich is why there is now an over-the-counter genetic test that measures peoples chances of developing the condition.

In the past few years, confidence in sciences ability to detect and quantify such genome-wide patterns of susceptibility has increased to the extent that they are being used as the basis for something known as a polygenic risk score (PRS). These are quite unlike the genetic tests people are used to. Those single-gene tests have a lot of predictive value: a person who has the Huntingtons gene will get Huntingtons; women with a dangerous BRCA1 mutation have an almost-two-in-three chance of breast cancer (unless they opt for a pre-emptive mastectomy). But the damaging variations they reveal are rare. The vast majority of the women who get breast cancer do not have BRCA mutations. Looking for the rare dangerous defects will reveal nothing about the other, subtler but still possibly relevant genetic traits those women do have.

Polygenic risk scores can be applied to everyone. They tell anyone how much more or less likely they are, on average, to develop a genetically linked condition. A recently developed PRS for a specific form of breast cancer looks at 313 different ways that genomes vary; those with the highest scores are four times more likely to develop the cancer than the average. In 2018 researchers developed a PRS for coronary heart disease that could identify about one in 12 people as being at significantly greater risk of a heart attack because of their genes.

Some argue that these scores are now reliable enough to bring into the clinic, something that would make it possible to target screening, smoking cessation, behavioural support and medications. However, hope that knowing their risk scores might drive people towards healthier lifestyles has not, so far, been validated by research; indeed, so far things look disappointing in that respect.

Assigning a PRS does not require sequencing a subjects whole genome. One just needs to look for a set of specific little markers in it, called SNPs. Over 70,000 such markers have now been associated with diseases in one way or another. But if sequencing someones genome is not necessary in order to inspect their SNPs, understanding what the SNPs are saying in the first place requires that a lot of people be sequenced. Turning patterns discovered in the SNPs into the basis of risk scores requires yet more, because you need to see the variations in a wide range of people representative of the genetic diversity of the population as a whole. At the moment people of white European heritage are often over-represented in samples.

The first genome cost, by some estimates, $3bn

The need for masses of genetic information from many, many human genomes is one of the main reasons why genomic medicine has taken off rather slowly. Over the course of the Human Genome Project, and for the years that followed, the cost of sequencing a genome fell quicklyas quickly as the fall in the cost of computing power expressed through Moores law. But it was falling from a great height: the first genome cost, by some estimates, $3bn. The gap between getting cheaper quickly and being cheap enough to sequence lots of genomes looked enormous.

In the late 2000s, though, fundamentally new types of sequencing technology became available and costs dropped suddenly (see chart). As a result, the amount of data that big genome centres could produce grew dramatically. Consider John Sulstons home base, the Wellcome Sanger Institute outside Cambridge, England. It provided more sequence data to the Human Genome Project than any other laboratory; at the time of its 20th anniversary, in 2012, it had produced, all told, almost 1m gigabytesone petabyteof genome data. By 2019, it was producing that same amount every 35 days. Nor is such speed the preserve of big-data factories. It is now possible to produce billions of letters of sequence in an hour or two using a device that could easily be mistaken for a chunky thumb drive, and which plugs into a laptop in the same way. A sequence as long as a human genome is a few hours work.

As a result, thousands, then tens of thousands and then hundreds of thousands of genomes were sequenced in labs around the world. In 2012 David Cameron, the British prime minister, created Genomics England, a firm owned by the government, and tasked initially with sequencing 100,000 genomes and integrating sequencing, analysis and reporting into the National Health Service. By the end of 2018 it had finished the 100,000th genome. It is now aiming to sequence five million. Chinas 100,000 genome effort started in 2017. The following year saw large-scale projects in Australia, America and Turkey. Dubai has said it will sequence all of its three million residents. Regeneron, a pharma firm, is working with Geisinger, a health-care provider, to analyse the genomes of 250,000 American patients. An international syndicate of investors from America, China, Ireland and Singapore is backing a 365m ($405m) project to sequence about 10% of the Irish population in search of disease genes.

Genes are not everything. Controls on their expressionepigentics, in the jargonand the effects of the environment need to be considered, too; the kitchen can have a distinctive effect on the way a recipe turns out. That is why biobanks are being funded by governments in Britain, America, China, Finland, Canada, Austria and Qatar. Their stores of frozen tissue samples, all carefully matched to clinical information about the person they came from, allow study both by sequencing and by other techniques. Researchers are keen to know what factors complicate the lines science draws from genes to clinical events.

Today various companies will sequence a genome commercially for $600-$700. Sequencing firms such as Illumina, Oxford Nanopore and Chinas BGI are competing to bring the cost down to $100. In the meantime, consumer-genomics firms will currently search out potentially interesting SNPs for between $100 and $200. Send off for a home-testing kit from 23andMe, which has been in business since 2006, and you will get a colourful box with friendly letters on the front saying Welcome to You. Spit in a test tube, send it back to the company and you will get inferences as to your ancestry and an assessment of various health traits. The health report will give you information about your predisposition to diabetes, macular degeneration and various other ailments. Other companies offer similar services.

Plenty of doctors and health professionals are understandably sceptical. Beyond the fact that many gene-testing websites are downright scams that offer bogus testing for intelligence, sporting ability or wine preference, the medical profession feels that people are not well equipped to understand the results of such tests, or to deal with their consequences.

An embarrassing example was provided last year by Matt Hancock, Britains health minister. In an effort to highlight the advantages of genetic tests, he revealed that one had shown him to be at heightened risk of prostate cancer, leading him to get checked out by his doctor. The test had not been carried out by Britains world-class clinical genomics services but by a private company; critics argued that Mr Hancock had misinterpreted the results and consequently wasted his doctors time.

23andMe laid off 14% of its staff in January

He would not be the first. In one case, documented in America, third-party analysis of genomic data obtained through a website convinced a woman that her 12-year-old daughter had a rare genetic disease; the girl was subjected to a battery of tests, consultations with seven cardiologists, two gynaecologists and an ophthalmologist and six emergency hospital visits, despite no clinical signs of disease and a negative result from a genetic test done by a doctor.

At present, because of privacy concerns, the fortunes of these direct-to-consumer companies are not looking great. 23andMe laid off 14% of its staff in January; Veritas, which pioneered the cheap sequencing of customers whole genomes, stopped operating in America last year. But as health records become electronic, and health advice becomes more personalised, having validated PRS scores for diabetes or cardiovascular disease could become more useful. The Type 2 diabetes report which 23andMe recently launched looks at over 1,000 SNPs. It uses a PRS based on data from more than 2.5m customers who have opted to contribute to the firms research base.

As yet, there is no compelling reason for most individuals to have their genome sequenced. If genetic insights are required, those which can be gleaned from SNP-based tests are sufficient for most purposes. Eventually, though, the increasing number of useful genetic tests may well make genome sequencing worthwhile. If your sequence is on file, many tests become simple computer searches (though not all: tests looking at the wear and tear the genome suffers over the course of a lifetime, which is important in diseases like cancer, only make sense after the damage is done). If PRSs and similar tests come to be seen as valuable, having a digital copy of your genome at hand to run them on might make sense.

Some wonder whether the right time and place to do this is at birth. In developed countries it is routine to take a pinprick of blood from the heel of a newborn baby and test it for a variety of diseases so that, if necessary, treatment can start quickly. That includes tests for sickle-cell disease, cystic fibrosis, phenylketonuria (a condition in which the body cannot break down phenylalanine, an amino acid). Some hospitals in America have already started offering to sequence a newborns genome.

Sequencing could pick up hundreds, or thousands, of rare genetic conditions. Mark Caulfield, chief scientist at Genomics England, says that one in 260 live births could have a rare condition that would not be spotted now but could be detected with a whole-genome sequence. Some worry, though, that it would also send children and parents out of the hospital with a burden of knowledge they might be better off withoutespecially if they conclude, incorrectly, that genetic risks are fixed and predestined. If there is unavoidable suffering in your childs future do you want to know? Do you want to tell them? If a child has inherited a worrying genetic trait, should you see if you have it yourselfor if your partner has? The ultimate answer to the commandment know thyself may not always be a happy one.

This article appeared in the Technology Quarterly section of the print edition under the headline "Welcome to you"

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Genomics took a long time to fulfil its promise - The Economist

Above: A researcher works in a lab that is developing testing for the COVID-19 coronavirus at Hackensack Meridian Health Center for Discovery and Innovation on February 28, 2020 in Nutley, New Jersey. (Photo by Kena Betancur/Getty Images)

There's a massive shortage of COVID-19 (Coronavirus) test kits in the U.S., as cases continue to skyrocket in places like Seattle and New York City. This is largely due to the failure of the Centers for Disease Control and Prevention (CDC) to distribute the tests in a timely fashion.

But it didn't have to be this way. Back in January and Februarywhen cases of the deadly disease began aggressively circulating outside of Chinadiagnostics already existed in places like Wuhan, where the pandemic began. Those tests followed World Health Organization (WHO) test guidelines, which the U.S. decided to eschew.

Instead, the CDC created its own in-depth diagnostics that could identify not only COVID-19, but a host of SARS-like coronaviruses. Then, disaster struck: When the CDC sent tests to labs during the first week of February, those labs discovered that while the kits did detect COVID-19, they also produced false positives when checking for other viruses. As the CDC went back to the drawing board to develop yet more tests, precious time ticked away.

"I think that we should have had testing more widely available about a month earlier," Dr. Carl Fichtenbaum, professor of clinical medicine at the University of Cincinnati's School of Medicine, tells Popular Mechanics. "That would have been more appropriate so that we could have identified people earlier on and used some of the mitigating strategies that were using now."

As the spread of Coronavirus continues to escalate in the U.S., private institutions like academic research hospitals are scrambling in a mad dash to come up with more test kits. And there is hope: The Cleveland Clinic says it has developed a diagnostic test that can deliver results in just hours, as opposed to the time it takes the existing CDC tests, which can take days.

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Testing for COVID-19 comes in two primary forms: You'll either have your throat swabbed if you're in the U.S., or perhaps have your blood drawn if you're in another country, like China. The different approaches ultimately come down to how scientists have developed the lab tests.

In the U.S., the CDC's diagnostic tool relies on polymerase chain reaction testing (PCR), which detects genetic material found in the virus's RNA. Unlike in other methods, the virus doesn't have to be alive for its presence to be detected.

"We take parts of the virus and we [test] whats called the conserved parts of the virus, parts that dont change a lot," Dr. Fichtenbaum explains. "There are always mutations. Were looking at the genetic code and we take a sequence of what we call primers, or things that will match up with that genetic code, and we put them through a series of steps where the primers will match the genetic code if [the virus] is present."

PCR testing is generally too advanced to be done at a hospital, and is more in the wheelhouse of clinical laboratory settings. There, researchers extract the sample's nucleic acidone of the four bases found in DNA sequencesto study the virus genome. They can amplify portions of that genome through a special process called reverse transcription polymerase chain reaction. That way, scientists can compare the sample to SARS-CoV-2, the virus that causes the novel coronavirus.

SARS-CoV-2 has almost 30,000 nucleotides in total, which make up its DNA. The University of Washington School of Medicine's PCR test hones in on about 100 of those that are known to be unique to the virus.

The researchers are looking for two genes in particular, and if they find both, the test is considered positive. If they only find one, the test is inconclusive. However, the CDC notes, "it is possible the virus will not be detected" in the early stages of the viral infection.

In some cases, Dr. Fichtenbaum says, it's possible to quantify the number of copies of the viral gene present. It could be one, 10, or 10 million, he says, and the higher that amount is, the more contagious you may be, or the further along you may be in the illness.

U.S. Centers for Disease Control and Prevention

As of press time, the CDC has directly examined some 3,791 specimens in Atlanta, according to data produced on Thursday afternoon, while public health laboratories across the country have tested another 7,288. Notably, some data after March 6 is still pending.

Regardless, with about 1,000 confirmed cases in the U.S., those figures suggest roughly one in 11 people tested have actually contracted the novel Coronavirus. Surely, if more tests were available, those numbers would be higher, Dr. Fichtenbaum says. Because of the CDC snafu and an initial muted reaction to the outbreak from President Trump's administration, we're about a month behind on the diagnostics front, he adds.

Piling onto other reasons, Dr. Karen C. Carrolldirector of the Division of Medical Microbiology at Johns Hopkins University School of Medicinebelieves that the test shortage is "complicated" by the fact that no one expected COVID-19 to spread so quickly in the U.S.

Not to mention, manufacturers are now low on supplies that academic labs, like hers, require to develop and distribute test kits, she tells Popular Mechanics.

During a Congressional hearing on Wednesday, Dr. Anthony Fauci, director of the National Institute of Allergy and Infectious Diseases, said the public health care system is failing to make tests available to people who may have contracted COVID-19.

"The idea of anybody getting [the test] easily the way people in other countries are doing it, we're not set up for that. Do I think we should be? Yes, but we're not," he said.

The silver lining: The CDC is now working in tandem with private labs to make more tests available. The concern then becomes how many tests these labs can actually perform each day. Experts estimate that most labs will have the capacity to complete about 100 tests per day, which just isn't good enough to contain COVID-19 at this point.

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Just because your doctor may have ordered you a COVID-19 test, that doesn't mean you'll actually receive one.

According to CDC guidelines, there are three general classes of patients who seek the diagnostic test, and it's up to the discretion of the health care systems to administer them. With limited supply, those are tough decisions. The classes are:

Testing can be quite restrictive, and people who aren't in a high risk category, or who have traveled to a country where there are cases of COVID-19but had no known exposure to the virusare turned away.

"Once we relax the standards for testing so that we can test on anyone we think appropriate, and its not as complicated, we'll be able to reduce the spread," Dr. Fichtenbaum says.

Right now in Ohio, where Dr. Fichtenbaum is based, doctors must fill out a four-page form and conduct in-depth tracing of a patient's movements before they can administer a test, he says. Not only is it time-consuming, but it may result in the patient not receiving a test at alland could have contracted the virus.

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To expedite the availability of diagnostics, the U.S. Food and Drug Administration (FDA) announced in late February that academic hospital systems had the green light to develop their own test kits.

The move allows these institutions to rely on their own internal validation upfront, rather than wait on the time-consuming FDA approvals process before using the tests. While FDA approval is still ultimately required under this policy, once the hospitals themselves have determined the tests are accurate and safe, they can begin using them.

Dr. Carroll of Johns Hopkins says that her lab went live with their own test yesterday. "Now, we have 15 days to send [the FDA] our validation package," she says. Her lab can now use the test to check for COVID-19 in patients that come to the medical center, but a few more things must also happen in tandem to satisfy the FDA's requirements.

Once a private lab sends in their validation package, which includes data collected during the test development, the FDA may call back with questions about the kit or ask for clarification. If the labs get radio silence for a while, that's normal, according to Dr. Carroll, but eventually, they must be granted what is known as an Emergency Use Authorization.

Under section 564 of the Federal Food, Drug, and Cosmetic Act, the FDA Commissioner may allow unapproved medical productslike privately developed COVID-19 teststo be used in an emergency for diagnosis, treatment or prevention when there are no better alternatives.

"I dont know how quickly they will get back to laboratories, they havent told us that," Dr. Carroll says.

Labs must also have close communication with their state health department laboratory, which is essentially the top lab in the state, she added. The FDA is requiring private institutions to send their first five negative and first five positive testing results to their state lab to ensure uniformity and effectiveness.

"A public health laboratory monitors certain communicable diseases," Dr. Carroll explains. "Some even offer testing for the community, like STDs such as Gonorrhea."

Other hospitals across the U.S. are making strides in test development, too. In Washington, where the CDC's faulty tests stymied the progress of testing, potentially aiding the community spread seen there, the University of Washington Medical Center has developed a COVID-19 test based on WHO recommendations, unlike the CDC. The hospital system has the capacity to conduct about 1,000 tests per day, and is working to ramp that up to 4,000 or 5,000 daily tests.

The Cleveland Clinic's test, meanwhile, should only take about eight hours to turn around a positive or negative result and should be ready by the end of March.

In a statement provided Thursday to Popular Mechanics, the Cleveland Clinic says it will soon have the capabilities to conduct on-site testing. "We are in the process of validating our testing capabilities and will soon send out more information."

Moving forward, Dr. Fichtenbaum expects the FDA to soon approve what's known as multiplex testing, which will allow labs to run 96 tests at once, rather than work with one specimen at a time.

"They need to approve that at each lab and theyre slow," says Dr. Fichtenbaum. But he anticipates the FDA will give the all-clear in the next few days. Then, it's just a matter of manufacturing the tests, which should happen rapidly.

In the meantime, community spread continues, despite self-quarantine measures, countless canceled events, and sweeping work-from-home policies. The number of positive cases is probably significantly higher than the data shows, says Dr. Fichtenbaum, which only worsens the contagion.

"I think that COVID-19 is probably more prevalent in our communities than we think," he says.

And the clinical microbiologists working tirelessly at the front lines in hospitals fully expect to meet demand. Dr. Heba Mostafa, assistant professor of pathology at Johns Hopkins University, tells Popular Mechanics that she expects to see testing ramp up and really meet demand over the course of the next four to eight weeks.

And Dr. Carroll says that the spirit of collaboration between academic medical centers has been refreshing. The University of Texas and the University of Washington have each helped out the Johns Hopkins effort, she says. They helped supply the genetic material necessary to complete their test's validation. Still, it's grueling.

"Our hospital is very happy that we went live yesterday, but of course now theyre interested in how many tests we can do," Carroll said with a laugh. "I sometimes feel that clinical microbiologists are the unsung heroes."

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Why There Aren't Enough Coronavirus Tests in the U.S. - Popular Mechanics

The young mothers didnt tell their children they had the coronavirus. Mama was working hard, they said, to save sick people.

Instead, Deng Danjing and Xia Sisi were fighting for their lives in the same hospitals where they worked, weak from fever and gasping for breath. Within a matter of weeks, they had gone from healthy medical professionals on the front lines of the epidemic in Wuhan, China, to coronavirus patients in critical condition.

The world is still struggling to fully understand the new virus, its symptoms, spread and sources. For some, it can feel like a common cold. For others, it is a deadly infection that ravages the lungs and pushes the immune system into overdrive, destroying even healthy cells. The difference between life and death can depend on the patients health, age and access to care although not always.

The virus has infected more than 132,000 globally. The vast majority of cases have been mild, with limited symptoms. But the viruss progression can be quick, at which point the chances of survival plummet. Around 68,000 people have recovered, while nearly 5,000 have died.

The fates of Ms. Deng and Dr. Xia reflect the unpredictable nature of a virus that affects everyone differently, at times defying statistical averages and scientific research.

As the new year opened in China, the women were leading remarkably similar lives. Both were 29 years old. Both were married, each with a young child on whom she doted.

Ms. Deng, a nurse, had worked for three years at Wuhan No. 7 Hospital, in the city where she grew up and where the coronavirus pandemic began. Her mother was a nurse there, too, and in their free time they watched movies or shopped together. Ms. Dengs favorite activity was playing with her two pet kittens, Fat Tiger and Little White, the second of which she had rescued just three months before falling sick.

Before the epidemic, Ms. Deng had promised to take her 5-year-old daughter to the aquarium.

Dr. Xia, a gastroenterologist, also came from a family of medical professionals. As a young child, she had accompanied her mother, a nurse, to work. She joined the Union Jiangbei Hospital of Wuhan in 2015 and was the youngest doctor in her department. Her colleagues called her Little Sisi or Little Sweetie because she always had a smile for them. She loved Sichuan hot pot, a dish famous for its numbingly spicy broth.

Dr. Xia loved traveling with her family. She had recently visited Wuzhizhou Island, a resort destination off the southern coast of China.

When a mysterious new virus struck the city, the women began working long hours, treating a seemingly endless flood of patients. They took precautions to protect themselves. But they succumbed to the infection, the highly contagious virus burrowing deep into their lungs, causing fever and pneumonia. In the hospital, each took a turn for the worse.

One recovered. One did not.

Onset of virus & hospitalization

Ms. Deng, a Wuhan native who liked makeup and hanging out with her friends at Starbucks, had worked for eight years as a nurse, following her mothers career path. Dr. Xia, who was a favorite among elderly patients, spent long hours at the hospital helping to treat people suspected of having the virus.

The symptoms came on suddenly.

Dr. Xia had ended her night shift on Jan. 14 when she was called back to attend to a patient a 76-year-old man with suspected coronavirus. She dropped in frequently to check in on him.

Five days later, she started feeling unwell. Exhausted, she took a two-hour nap at home, then checked her temperature: It was 102 degrees. Her chest felt tight.

A few weeks later, in early February, Ms. Deng, the nurse, was preparing to eat dinner at the hospital office, when the sight of food left her nauseated. She brushed the feeling aside, figuring she was worn out by work. She had spent the beginning of the outbreak visiting the families of confirmed patients and teaching them to disinfect their homes.

After forcing down some food, Ms. Deng went home to shower, and then, feeling groggy, took a nap. When she woke up, her temperature was 100 degrees.

Fever is the most common symptom of the coronavirus, seen in nearly 90 percent of patients. About a fifth of people experience shortness of breath, often including a cough and congestion. Many also feel fatigued.

Both women rushed to see doctors. Chest scans showed damage to their lungs, a tell-tale sign of the coronavirus that is present in at least 85 percent of patients, according to one study.

In particular, Ms. Dengs CT scan showed what the doctor called ground-glass opacities on her lower right lung hazy spots that indicated fluid or inflammation around her airways.

The hospital had no space, so Ms. Deng checked into a hotel to avoid infecting her husband and 5-year-old daughter. She sweated through the night. At one point, her calf twitched. In the morning, she was admitted to the hospital. Her throat was swabbed for a genetic test, which confirmed she had the coronavirus.

Her room in a newly opened staff ward was small, with two cots and a number assigned to each one. Ms. Deng was in bed 28. Her roommate was a colleague who had also been diagnosed with the virus.

At Jiangbei Hospital, 18 miles away, Dr. Xia was struggling to breathe. She was placed in an isolation ward, treated by doctors and nurses who wore protective suits and safety goggles. The room was cold.

Day 1, hospitalization begins

After Ms. Deng was admitted to the hospital, she told her husband to take care of himself, reminding him of the 14-day incubation period for the virus. He assured her his temperature was normal. Dr. Xia asked her husband about the possibility of getting off oxygen therapy soon. He responded optimistically.

When Ms. Deng checked into the hospital, she tried to stay upbeat. She texted her husband, urging him to wear a mask even at home, and to clean all their bowls and chopsticks with boiling water or throw them out.

Her husband sent a photograph of one of their cats at home. Waiting for you to come back, he said.

I think itll take 10 days, half a month, she replied. Take care of yourself.

There is no known cure for Covid-19, the official name for the disease caused by the new coronavirus. So doctors rely on a cocktail of other medicines, mostly antiviral drugs, to alleviate the symptoms.

Ms. Dengs doctor prescribed a regimen of arbidol, an antiviral medicine used to treat the flu in Russia and China; Tamiflu, another flu medicine more popular internationally; and Kaletra, an HIV medicine thought to block the replication of the virus. Ms. Deng was taking at least 12 pills a day, as well as traditional Chinese medicine.

Arbidol, an antiviral medication, was prescribed to help alleviate Ms. Dengs symptoms.

Despite her optimism, she grew weaker. Her mother delivered home-cooked food outside the ward, but she had no appetite. To feed her, a nurse had to come at 8:30 each morning to hook her up to an intravenous drip with nutrients. Another drip pumped antibodies into her bloodstream, and still another antiviral medicine.

Dr. Xia, too, was severely ill, but appeared to be slowly fighting the infection. Her fever had subsided after a few days, and she began to breathe more easily after being attached to a ventilator.

Her spirits lifted. On Jan. 25, she told her colleagues she was recovering.

I will return to the team soon, she texted them on WeChat.

We need you the most, one of her colleagues responded.

In early February, Dr. Xia asked her husband, Wu Shilei, also a doctor, whether he thought she could get off oxygen therapy soon.

Take it easy. Dont be too anxious, he replied on WeChat. He told her that the ventilator could possibly be removed by the following week.

I keep on thinking about getting better soon, Dr. Xia responded.

There was reason to believe she was on the mend. After all, most coronavirus patients recover.

Later, Dr. Xia tested negative twice for the coronavirus. She told her mother she expected to be discharged on Feb. 8.

Day 4 to 16 after hospitalization

In the hospital, Ms. Dengs only contacts were her roommate and the medical staff. She added a caption to a photo with her doctor, saying laughter would help chase the illness away. Two tests indicated that Dr. Xia was free of the virus, but her condition suddenly deteriorated.

By Ms. Dengs fourth day in the hospital, she could no longer pretend to be cheerful. She was vomiting, having diarrhea and relentlessly shivering.

Her fever jumped to 101.3 degrees. Early in the morning on Feb. 5, she woke from a fitful sleep to find the medicine had done nothing to lower her temperature. She cried. She said she was classified as critically ill.

The next day, she threw up three times, until she was left spitting white bubbles. She felt she was hallucinating. She could not smell or taste, and her heart rate slowed to about 50 beats per minute.

On a phone call, Ms. Dengs mother tried to reassure her that she was young and otherwise healthy, and that the virus would pass like a bad cold. But Ms. Deng feared otherwise. I felt like I was walking on the edge of death, she wrote in a social media post from her hospital bed the next day.

China defines a critically ill patient as someone with respiratory failure, shock or organ failure. Around 5 percent of infected patients became critical in China, according to one of the largest studies to date of coronavirus cases. Of those, 49 percent died. (Those rates may eventually change once more cases are examined around the world.)

While Dr. Xia appeared to be recovering, she was still terrified of dying. Testing can be faulty, and negative results dont necessarily mean patients are in the clear.

She asked her mother for a promise: Could her parents look after her 2-year-old son if she didnt make it?

Hoping to dispel her anxiety with humor, her mother, Jiang Wenyan, chided her: Hes your own son. Dont you want to raise him yourself?

Dr. Xia also worried about her husband. Over video chat, she urged him to put on protective equipment at the hospital where he worked. She said she would wait for me to return safely, he said, and go to the frontline again with me when she recovered.

Then came the call. Dr. Xias condition had suddenly deteriorated. In the early hours of Feb. 7, her husband rushed to the emergency room.

Her heart had stopped.

Day 17 after hospitalization

After being discharged, Ms. Deng briefly got to see her mother, who had been working at the hospital during her illness. She then went home to isolate herself for two weeks.

In most cases, the body repairs itself. The immune system produces enough antibodies to clear the virus, and the patient recovers.

By the end of Ms. Dengs first week in the hospital, her fever had receded. She could eat the food her mother delivered. On Feb. 10, as her appetite returned, she looked up photos of meat skewers online and posted them wishfully to social media.

On Feb. 15, her throat swab came back negative for the virus. Three days later, she tested negative again. She could go home.

Ms. Deng met her mother briefly at the hospitals entrance. Then, because Wuhan remained locked down, without taxis or public transportation, she walked home alone.

I felt like a little bird, she recalled. My freedom had been returned to me.

She had to isolate at home for 14 days. Her husband and daughter stayed with her parents.

At home, she threw out her clothing, which she had been wearing for her entire time in the hospital.

Since then, she has passed the time by playing with her cats and watching television. She jokes that she is getting an early taste of retirement. She does daily deep breathing exercises to strengthen her lungs, and her cough has faded.

The Chinese government has urged recovered patients to donate plasma, which experts say contains antibodies that could be used to treat the sick. Ms. Deng contacted a local blood bank soon after getting home.

She plans to go back to work as soon as the hospital allows it.

It was the nation that saved me, she said. And I think I can pay it back to the nation.

Day 35 after hospitalization

On Dr. Xias desk at work, her colleagues left 1,000 paper cranes a Chinese symbol of hope and blessings. Written on the wings was a message: Rest in peace, we will use our lives to continue this relay race and prevail over this epidemic.

It was sometime after 3 a.m. on Feb. 7 when Dr. Xia was rushed to intensive care. Doctors first intubated her. Then, the president of the hospital frantically summoned several experts from around the city, including Dr. Peng Zhiyong, head of the department of critical care at Zhongnan Hospital.

They called every major hospital in Wuhan to borrow an extracorporeal membrane oxygenation, or Ecmo, machine to do the work of her heart and lungs.

Dr. Xias heart started beating again. But the infection in her lungs was too severe, and they failed. Her brain was starved of oxygen, causing irreversible damage. Soon, her kidneys shut down and doctors had to put her on round-the-clock dialysis.

The brain acts as the control center, Dr. Peng said. She couldnt command her other organs, so those organs would fail. It was only a matter of time.

Dr. Xia slipped into a coma. She died on Feb. 23.

Dr. Peng remains baffled about why Dr. Xia died after she had seemed to improve. Her immune system, like that of many health workers, may have been compromised by constant exposure to sickness. Perhaps she suffered from what experts call a cytokine storm, in which the immune systems reaction to a new virus engulfs the lungs with white blood cells and fluid. Perhaps she died because her organs were starved of oxygen.

Back at Dr. Xias home, her son, Jiabao which means priceless treasure still thinks his mother is working. When the phone rings, he tries to grab it from his grandmothers hands, shouting: Mama, mama.

Her husband, Dr. Wu, doesnt know what to tell Jiabao. He hasnt come to terms with her death himself. They had met in medical school and were each others first loves. They had planned to grow old together.

I loved her very much, he said. Shes gone now. I dont know what to do in the future, I can only hold on.

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Two Women Fell Sick From the Coronavirus. One Survived. - The New York Times

UPMC has developed a test for the novel coronavirus SARS-CoV-2 the virus that causes COVID-19 and will use this test to diagnose select, symptomatic cases.

The health system plans to rapidly increase capacity at its central laboratory and, if there is a need, could test hundreds of patients per week in the near future, filling a critical gap before other commercial tests come online.

Developing this test for a never-before-seen virus in the midst of a pandemic was a tremendous challenge, even for our academic medical center with its long history of such developments, said Alan Wells, M.D., D.M.Sc., medical director of the UPMC Clinical Laboratories and Thomas Gill III Professor of Pathology at the University of Pittsburgh School of Medicine. But testing capabilities are absolutely essential to managing a pandemic. If the communities we serve see a surge in severe illnesses, we must be able to diagnose people quickly to give them the appropriate care while protecting our staff and the broader community.

Additionally, UPMC on Tuesday will begin directing patients with symptoms consistent with COVID-19 to a specimen collection site in Pittsburghs South Side neighborhood. The site is not open to the general public. Patients must have a physician referral approved by UPMCs infection prevention team and an appointment to have their specimen collected for testing by either UPMC or public health authorities.

UPMC will later open additional specimen collection facilities in Harrisburg, Erie, Williamsport and Altoona at an as-yet undetermined date after gaining experience with the South Side facility and after UPMCs testing capacity increases.

Testing capabilities for COVID-19 in the U.S. have been delayed and limited, creating anxiety for the people we serve and impairing our ability to optimally guide the public health response, said Donald Yealy, M.D., chair of emergency medicine for UPMC and Pitt. By creating our own test and collection centers, we can both help our patients and the overall community. We seek getting a diagnosis in hours, not days.

The U.S. lagged behind other countries in testing capacity, which was centered around public health authorities. The tests created by commercial laboratories are either not serving the Pittsburgh region or can take longer for results, according to Wells.

Trained UPMC providers will collect specimens, doing so safely while wearing personal protective equipment, including gowns, gloves and N95 masks or respirators. Collection will occur in negative pressure rooms, which assure that air does not leave the room until it flows through a high-efficiency particulate air (HEPA) filter that removes pathogens. The process involves a nasopharyngeal swab, a thin device inserted through a patients nose into the nasal cavity.

The specimens will be safely transported for testing to the UPMC Clinical Laboratories, the largest academic clinical lab in the U.S. In most cases, results will be returned within 24 hours. UPMC may continue to send specimens to the Pennsylvania Department of Healths laboratory in eastern Pennsylvania or health department laboratories in New York and Maryland as needed and for confirmation. UPMC will work with commercial laboratories to send specimens to them as soon as they have capacity, which will maximize the health systems ability to test all who need it.

UPMCs laboratory developed test was created using reagents already approved for making a SARS-CoV-2 test and following U.S. Centers for Disease Control and Prevention (CDC) guidelines. It is validated under the Clinical Laboratory Improvement Amendments program of the Centers for Medicare & Medicaid Services for use in human diagnoses.

The test was created by a virology team led by Tung Phan, M.D., Ph.D., assistant professor of pathology at Pitt and assistant director of clinical microbiology at UPMC; Charles Rinaldo, Jr., Ph.D., chair and professor of the Pitt Graduate School of Public Healths Department of Infectious Diseases and Microbiology and director of the UPMC Clinical Virology Laboratory; and Stephanie Mitchell, Ph.D., assistant professor of pathology at Pitt and director of clinical microbiology at UPMC Childrens Hospital of Pittsburgh. Implementation work was done by Arlene Bullotta, Barbara Harris and Kathy Greenawalt of the Section of Virology at UPMC Clinical Laboratories. This was a tireless effort by a team dedicated to serving the needs of our patients, said Wells.

The test was validated with genetic samples of SARS-CoV-2 shared by Paul Duprex, Ph.D., director of Pitts Center for Vaccine Research, which is pursuing development of a COVID-19 vaccine.

Anyone whose sample is taken should self-isolate until results come back. If it is positive, UPMC will refer the patient to public health authorities and ensure ongoing care. All positive UPMC test results will be presumed positive until confirmed by the CDC or state public health laboratories.

People who suspect they have COVID-19 but do not have a high fever or breathing problems should call their primary care physician or use UPMC AnywhereCare, an online tool to get advice. Anyone with a high fever or breathing trouble should go to their local emergency department for evaluation and care.

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UPMC ready to test for coronavirus; Collection site to open in Williamsport | News, Sports, Jobs - Lock Haven Express

Starting as a mysterious pneumonia in Wuhan, China, the newly named COVID-19 has resulted in a worldwide outbreak, causing morbidity and mortality as well as potentially disrupting the global economy. The World Health Organization (WHO) has declared this a global pandemic; to date (as this article goes to press), there are more than 80,000 reported cases worldwide (72,506 from Mainland China, Hong Kong, and Macau), and COVID-19 has claimed more than 2700 lives. (For more information, please see https://www.cdc.gov/coronavirus/ 2019-ncov/summary.html.)

Although pharmaceutical companies and countries are looking into vaccinations and curative treatment for coronavirus infection, currently there is nothing available; thus, precautions against transmission and early supportive treatment is key. Psychiatrists must have a basic understanding of the pathophysiology of coronaviruses in order to be able to accurately explain and discuss those issues with their patients, especially as mental health ramifications are expected.

Exploring the coronavirus: what is it?

Coronaviruses, belonging to the Coronaviridae family, are singlestranded positivesense ribonucleic acid (RNA) viruses that thrive in animals, which are their natural carriers. The only coronaviruses previously known to infect humans were HCoV229E, HCoVOC43, HCoVNL63, andHKU1, as well as the two infamous relatives of 2019-nCoVthe severe acute respiratory syndrome (SARS) and the Middle East respiratory syndrome (MERS), responsible for outbreaks in 2002-2003 and 2012, respectively. Alphacoronaviruses and betacoronaviruses infect mammals (eg, bats) whereas gammacoronaviruses and deltacoronaviruses are more prone to cause fish and bird infections (Table). Animal to humanzoonotictransmission is not the norm for coronaviruses, but prior coronavirus outbreaks in animals have been economically damaging.

It is unclear why more zoonotic epidemics have been occurring of late. However, it is hypothesized that global climate factors may be related and similar to viral mutations linked to pandemic capacity (ie, genetic drifts in a wide outbreak in animals may essentially lead to better virus survival rates in humans).1,2

In the case of COVID-19, the transmission is suspected to have occurred at the Wuhan Huanan Seafood Wholesale Market, although the exact carrier species has not been determined.3 From this point, the main 2019-nCoV contagion has been human-to-human transmission. Symptoms have ranged from mild to severe, with most patients reporting fever, dry cough, myalgia, fatigue, and diarrhea.4 Gastrointestinal symptoms have been present, although less frequent than with SARS.5

Variations in innate immune response

Why do some people get sicker than others? Coronaviruses have an RNA genome, similar to the influenza virus (responsible for the flu) or the respiratory syncytial virus (RSV). The immune system recognizes the RNA as foreign and triggers the immune response responsible for fighting the virus (ie, production of interferons and pro-inflammatory cytokines), and then clearing the foreign entity out of the body. A review of the exact immune responses are beyond the scope of this manuscript. However, the reader is encouraged to remember that the immune system is highly adaptable and modifies its metabolism and existing balance to fight expected threats (for an excellent review, see Kikkert6). Unfortunately, the virus exploits the hosts immune system, mimicking certain innate components to hide while replicating, which makes the immune system less able to effectively fight the invasion. Viruses may also halt cellular replication and use existing cellular resources to prioritize viral replication. The balance between immune response and viral replicative success ultimately determines disease outcome.

Certain populations are known to be vulnerable to COVID-19, such as infants, the elderly, and those with immunocompromised systems or pre-existing medical issues, who are at increased risk for severe repercussions from infections and, thus, more likely to develop sepsis and possibly death; worse outcomes could also be related to an overactive immune response.7 Cytokine storm, a term referring to over-production of inflammatory cytokines, was found more often in patients suffering from COVID-19 who ended up in intensive care, but causal factors are not fully understood.8 Thus far, there is no way to predict who will have an exaggerated immune response besides looking for the previously noted clinical, non-specific factors.

Prevention, treatment, mental health implications >

Disclosures:

Dr Moukaddam is Associate Professor, Menninger Department of Psychiatry and Behavioral Science, Baylor College of Medicine, Ben Taub Adult Outpatient Services Director, Medical Director, STAR (Stabilization, Treatment, and Rehabilitation) Program for Psychosis, Houston, TX. Dr Shah is Professor & Executive Vice Chair, Barbara & Corbin J. Robertson Jr. Chair in Psychiatry at Menninger, Chief of the Division of Community Psychiatry at Baylor College of Medicine. They report no conflicts of interest concerning the subject matter of this article.

References:

1. Caminade C, McIntyre KM, Jones AE. Impact of recent and future climate change on vector-borne diseases. Ann N Y Acad Sci. 2019;1436(1):157-173.

2. Goneau LW, Mehta K, Wong J, LHuillier AG, Gubbay JB. Zoonotic Influenza and Human Health-Part 1: Virology and Epidemiology of Zoonotic Influenzas. Curr Infect Dis Rep. 2018;20(10):37.

3. Li Q, Guan X, Wu P, et al. Early Transmission Dynamics in Wuhan, China, of Novel Coronavirus-Infected Pneumonia. NEJM. 2020.

4. Liu J, Zheng X, Tong Q, et al. Overlapping and discrete aspects of the pathology and pathogenesis of the emerging human pathogenic coronaviruses SARS-CoV, MERS-CoV, and 2019-nCoV. J Med Virol. 2020.

5. Habibzadeh P, Stoneman EK. The Novel Coronavirus: A Birds Eye View. Int J Occup Environ Med. 2020;11(2):65-71.

6. Kikkert M. Innate Immune Evasion by Human Respiratory RNA Viruses. J Innate Immun. 2020;12(1):4-20.

7. Chousterman BG, Swirski FK, Weber GF. Cytokine storm and sepsis disease pathogenesis. Semin Immunopathol. 2017;39(5):517-528.

8. Huang C, Wang Y, Li X, et al. Clinical features of patients infected with 2019 novel coronavirus in Wuhan, China. Lancet (London, England). 2020;395(10223):497-506.

9. WHO. Use of disinfectants: alcohol and bleach. Infection prevention and control of epidemic-and pandemic-prone acute respiratory infections in health care. Geneva: WHO;2014.

10. Siddharta A, Pfaender S, Vielle NJ, et al. Virucidal Activity of World Health Organization-Recommended Formulations Against Enveloped Viruses, Including Zika, Ebola, and Emerging Coronaviruses. J Infect Dis. 2017;215(6):902-906.

11. Kampf G, Todt D, Pfaender S, Steinmann E. Persistence of coronaviruses on inanimate surfaces and its inactivation with biocidal agents. J Hosp Infect. 2020.

12. Lessler J, Reich NG, Brookmeyer R, Perl TM, Nelson KE, Cummings DA. Incubation periods of acute respiratory viral infections: a systematic review. Lancet Infect Dis. 2009;9(5):291-300.

13. Serrano I, Gomes D, Ramilo D, et al. An Overview of Zoonotic Disease Outbreaks and its Forensic Management Over Time. J Forensic Sci. 2019;64(5):1304-1311.

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The New Game of Microbiology Clue: The Who, When, Where, and Why of the Novel Coronavirus - Psychiatric Times

Cancer Biomarker Market Size, Share & Trends Analysis Report by Biomarker Type (Genetic Biomarker and Protein Biomarker), By Cancer Type (Lung Cancer, Prostate Cancer, Breast Cancer, Colorectal Cancer, and Cervical Cancer), By Application (Drug Discovery & Development, Diagnosis, Risk Assessment and Prognostics), By Profiling Technology (Omics Technology, Immunoassays, Cytogenetics and Bioinformatics) and Forecast, 2019-2025

Protein biomarker is widely used in the cancer diagnosis due to various benefits such as the creation of powerful bioinformatics software, spectral libraries, and peptide databases. These benefits are creating new opportunities for developing protein biomarkers for the diagnosis, prognosis of disease and prediction of response to a therapeutic treatment.

The role of biomarkers extends all the aspects of drug discovery and development. The research of protein biomarkers includes glycosylation and phosphorylation, as it provides a clear indication of treatment with the time frame and drugs impacted on a disease.

Hence, its a decisive pathway for signaling and activation, often give insight into disease states.

Report: http://www.omrglobal.com/requesters-market

Growing research related to cancer biomarkers

The researches that are going presently have turned to the proteomics, for developing new biomarkers. These latest researches have improved the accuracy of the biomarkers as early detection of the diseases enables to provide better treatment.

Presently, scientists are also focusing on the gene expression for detecting the results of the therapy process.

Recently, the National Cancer Institute (NCI) sponsored Trial Assigning Individualized Option for treatment (Rx), or TAILORx. The National Cancer Institute in March 2016 has earmarked $5.5 million for funding for the establishment of laboratories with an aim to advance research on biomarkers and biomarker assays for various cancers such as of the prostate, lung, breast, and genitourinary organs.

The continuous interest of the government and major companies in the research and developing new technology forcancer biomarkeris motivating market growth.

The increasing trend towards personalized medicines

The increasing adoption of personalized medicines for cancer is augmenting the growth of the cancer biomarker market. Personalized medicine has the potential to modify therapy with the best response and highest safety margin to ensure better patient care.

By enabling these medicines, each patient to receive earlier diagnoses, risk assessments, and optimal treatments. The personalized medicine holds promise for improving health care while lowering costs which is expected to be a positive indicator for market growth.

As per to the Personalized Medicine Coalition (PMC), around 42% of all compounds and around 73% of oncology compounds in the pipeline have the potential to be included in personalized medicines.

The cancer biomarker companies closely doubled their R&D investment in personalized medicine over the past five years and suppose to increase their investment in the near future. Moreover, estimates of disease susceptibility or disease prognosis can be improved by combining genomic test results with knowledge about various factors such as age, lifestyle, or tumor size.

This is promising for predicting disease susceptibility, disease prognosis, or drug response of an individual patient. For device and drug manufacturers, personalized medicine provides an opportunity to develop agents that are targeted to patient groups that do not respond to medications as intended and for whom the traditional health systems have otherwise failed.

Report: http://www.omrglobal.com/industrers-market

Global Cancer Biomarker Market- Segmentation

By Biomarker Type

By Cancer Type

By Application

By Profiling Technology

Regional Analysis

North America

Europe

Asia-Pacific

Rest of the World

Report: http://www.omrglobal.com/report-ers-market

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Cancer Biomarker Market investigated in the latest research - WhaTech Technology and Markets News

SARASOTA, Fla. and NOVATO, Calif., March 16, 2020 (GLOBE NEWSWIRE) -- GeneTx Biotherapeutics LLC and Ultragenyx Pharmaceutical Inc.Inc. (NASDAQ: RARE), a biopharmaceutical company focused on the development and commercialization of novel products for serious rare and ultra-rare diseases, today announced that it has dosed the first patient in its KIK-AS (Knockdown of UBE3A-antisense in Kids with Angelman Syndrome) study of GTX-102, an experimental antisense oligonucleotide being evaluated for the treatment of Angelman syndrome (AS).

The Phase 1/2 open-label, multiple-dose, dose-escalating study will enroll 20 patients to evaluate the safety, tolerability, and potential efficacy of GTX-102 in pediatric patients with Angelman syndrome. This is the first investigational study testing an antisense oligonucleotide as a potential therapy to treat AS. Further details can be referenced at: https://clinicaltrials.gov/ct2/show/NCT04259281.

Today is an important milestone with the dosing of the first patient in the KIK-AS study, stated Dr. Scott Stromatt, GeneTxs Chief Medical Officer GTX-102 has the potential to address the underlying deficiency that causes Angelman syndrome and we are excited, grateful and humbled to be leading this scientific quest. We look forward to the results of this study and sharing them with the Angelman community.

The GeneTx team has achieved a tremendous accomplishment rapidly advancing this program into the clinic, and GTX-102 may one day provide patients with Angelman syndrome with the first targeted therapy and a potentially transformative option for this devastating disease, said Camille L. Bedrosian, M.D., Chief Medical Officer of Ultragenyx.

Chicagos Rush University Medical Center is the first clinical site to begin enrolling patients in the KIK-AS study, with additional sites being planned in Boston, Cincinnati, Denver, Los Angeles, New York and Ottawa, Canada.

When I held the syringe with this investigational treatment in my hand to inject it for the first time, I thought about the scientific advances in genomic and molecular medicine to produce potential treatments that bring hope of changing the disease course and ameliorating severity of symptoms in those with Angelman syndrome, said Elizabeth Berry-Kravis, site principal investigator at Rush. This is an exciting time for the field of neurodevelopmental disorders as we embark on a path to understanding the outcomes of treatments directed at correcting the underlying molecular causes of disease.

Pending additional site activation, GeneTx Biotherapeutics expects to report preliminary data from the first cohorts in the study in early 2021.

About Angelman Syndrome

Angelman syndrome is a rare, neurogenetic disorder caused by loss-of-function of the maternally inherited allele of the UBE3A gene. The maternal-specific inheritance pattern of Angelman syndrome is due to genomic imprinting of UBE3A in neurons of the central nervous system, a naturally occurring phenomenon in which the maternal UBE3A allele is expressed and the paternal UBE3A is not. Silencing of the paternal UBE3A allele is regulated by the UBE3A antisense transcript (UBE3A-AS), the intended target of GTX-102. In almost all cases of Angelman syndrome, the maternal UBE3A allele is either missing or mutated, resulting in limited to no protein expression. This condition is typically not inherited but instead occurs spontaneously.

Individuals with Angelman syndrome have developmental delay, balance issues, motor impairment, and debilitating seizures. Some individuals with Angelman syndrome are unable to walk and most do not speak. Anxiety and disturbed sleep can be serious challenges in individuals with Angelman syndrome. While individuals with Angelman syndrome have a normal lifespan, they require continuous care and are unable to live independently. Angelman syndrome is not a degenerative disorder, but the loss of the UBE3A protein expression in neurons results in abnormal communications between neurons. Angelman syndrome is often misdiagnosed as autism or cerebral palsy. There are no currently approved therapies for Angelman syndrome; however, several symptoms of this disorder can be reversed in adult animal models of Angelman syndrome suggesting that improvement of symptoms can potentially be achieved at any age.

About GTX-102

GTX-102 is an investigational antisense oligonucleotide designed to target and inhibit expressionof UBE3A-AS. Nonclinical studies show that GTX-102 reduces the levels of UBE3A-AS and reactivates expression of the paternal UBE3A allele in neurons of the CNS. Reactivation of paternal UBE3A expression in animal models of Angelman syndrome has been associated with improvements in some of the neurological symptoms associated with the condition. GTX-102 has been granted Orphan Drug Designation and Rare Pediatric Disease Designation from the U.S. Food and Drug Administration (FDA). InAugust 2019, GeneTx and Ultragenyx announced a partnership to develop GTX-102, with Ultragenyx receiving an exclusive option to acquire GeneTx.

About GeneTx Biotherapeutics

GeneTx Biotherapeutics LLC is a startup biotechnology company singularly focused on developing and commercializing a safe and effective antisense therapeutic for the treatment of Angelman syndrome. GeneTx was launched by FAST, a patient advocacy organization and the largest non-governmental funder of Angelman syndrome research. GeneTx licensed the rights to antisense technology intellectual property from The Texas A&M University System in December 2017.

AboutUltragenyx Pharmaceutical Inc.

Ultragenyx is a biopharmaceutical company committed to bringing patients novel products for the treatment of serious rare and ultra-rare genetic diseases. The company has built a diverse portfolio of approved therapies and product candidates aimed at addressing diseases with high unmet medical need and clear biology for treatment, for which there are typically no approved therapies treating the underlying disease.

The company is led by a management team experienced in the development and commercialization of rare disease therapeutics. Ultragenyxs strategy is predicated upon time and cost-efficient drug development, with the goal of delivering safe and effective therapies to patients with the utmost urgency.

For more information on Ultragenyx, please visit the Company's website atwww.ultragenyx.com.

Ultragenyx Forward-Looking Statements

Except for the historical information contained herein, the matters set forth in this press release, including statements related to Ultragenyx's expectations regarding plans for its clinical programs and clinical studies, future regulatory interactions, and the components and timing of regulatory submissions are forward-looking statements within the meaning of the "safe harbor" provisions of the Private Securities Litigation Reform Act of 1995. Such forward-looking statements involve substantial risks and uncertainties that could cause our clinical development programs, collaboration with third parties, including our partnership with GeneTx, future results, performance or achievements to differ significantly from those expressed or implied by the forward-looking statements. Such risks and uncertainties include, among others, the uncertainties inherent in the clinical drug development process, such as the regulatory approval process, the timing of regulatory filings and approvals (including whether such approvals can be obtained), and other matters that could affect sufficiency of existing cash, cash equivalents and short-term investments to fund operations and the availability or commercial potential of our products and drug candidates. Ultragenyx undertakes no obligation to update or revise any forward-looking statements. For a further description of the risks and uncertainties that could cause actual results to differ from those expressed in these forward-looking statements, as well as risks relating to the business of Ultragenyx in general, see Ultragenyx's Annual Report filed on Form 10-K with theSecurities and Exchange CommissiononFebruary 14, 2020, and its subsequent periodic reports filed with theSecurities and Exchange Commission.

Contacts:

GeneTxPaula Evans630-639-7271Paula.Evans@GeneTxBio.com

Ultragenyx Investors & MediaDanielle Keatley415-475-6876dkeatley@ultragenyx.com

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GeneTx and Ultragenyx Announce First Patient Dosed in Phase 1/2 Clinical Trial of GTX-102 in Patients with Angelman Syndrome - BioSpace

GW Pharmaceuticals plc (Nasdaq: GWPH) (GW, the Company or the Group), a world leader in discovering, developing and commercialising cannabinoid prescription medicines, today announces the submission of a Type II Variation Application to the European Medicines Agency (EMA) seeking approval of EPIDYOLEX, (cannabidiol) oral solution, for the treatment of seizures associated with Tuberous Sclerosis Complex (TSC), a rare genetic condition and a leading cause of genetic epilepsy. If approved, this will be the third licensed indication for GWs cannabidiol oral solution in Europe.

This submission to the EMA is an important step for GW and furthers GWs mission to bring innovative cannabinoid medicines to patients with high unmet need, said Chris Tovey, GWs Chief Operating Officer. We look forward to working with the EMA to demonstrate GWs cannabidiol oral solutions potential in this new indication and hope to make this rigorously tested cannabis-based medicine available to a new group of patients through a potential approval in due course.

TSC is a condition that causes mostly benign tumours to grow in vital organs of the body including the brain, skin, heart, eyes, kidneys and lungs, and in which epilepsy is the most common neurological feature. TSC is typically diagnosed in childhood.1

The Type II Variation Application is based on data from a positive Phase 3 safety and efficacy study. The study met its primary endpoint with patients treated with GWs cannabidiol oral solution 25 mg/kg/day experiencing a significantly greater reduction from baseline in TSC-associated seizures compared to placebo (49% vs 27%; p=0.0009). Results for the 50 mg/kg/day dose group were similar, with seizure reductions of 48% from baseline vs 26.5% for placebo (p=0.0018). All key secondary endpoints were supportive of the effects on the primary endpoint. The safety profile observed was consistent with findings from previous studies, with no new safety risks identified.

ADDITIONAL INFORMATION

About Tuberous Sclerosis Complex (TSC)Tuberous Sclerosis Complex (TSC) is a rare genetic condition that has an estimated prevalence in the EU of 10 in 100,000.2 The condition causes mostly benign tumours to grow in vital organs of the body including the brain, skin, heart, eyes, kidneys and lungs and is a leading cause of genetic epilepsy.1,3 TSC often occurs in the first year of life with patients suffering from either focal seizures or infantile spasms. It is associated with an increased risk of autism and intellectual disability.1 The severity of the condition can vary widely. In some children the disease is very mild, while others may experience life-threatening complications.4

About EPIDIOLEX/EPIDYOLEX (cannabidiol) oral solutionEPIDIOLEX/EPIDYOLEX (cannabidiol) oral solution, the first prescription, plant-derived cannabis-based medicine approved by the U.S. Food and Drug Administration (FDA) for use in the U.S. and the European Medicines Agencys (EMA) for use in Europe, is an oral solution which contains highly purified cannabidiol (CBD). EPIDYOLEX received approval in Europe in September 2019 for the treatment of seizures associated with Lennox-Gastaut syndrome (LGS) or Dravet syndrome in patients two years of age or older in conjunction with clobazam. In the U.S., EPIDIOLEX was approved in June 2018 by the FDA and is indicated for the treatment of seizures associated with LGS or Dravet syndrome in patients two years of age or older. A supplemental New Drug Application (sNDA) was submitted to the FDA in early 2020 for the treatment of seizures associated with Tuberous Sclerosis Complex (TSC). GWs cannabidiol oral solution has received Orphan Drug Designation from the FDA and the EMA for the treatment of seizures associated with Dravet syndrome, LGS and TSC, each of which are severe childhood-onset, drug-resistant syndromes.

About GW Pharmaceuticals plc Founded in 1998, GW is a biopharmaceutical company focused on discovering, developing and commercialising novel therapeutics from its proprietary cannabinoid product platform in a broad range of disease areas. The Companys lead product, EPIDIOLEX/EPIDYOLEX (cannabidiol) oral solution is commercialised in Europe by GW, and in the U.S. by the Companys subsidiary, Greenwich Biosciences. The Company has a strong pipeline of additional cannabinoid product candidates, with late-stage clinical trials in autism, schizophrenia, post-traumatic stress disorder (PTSD) and spasticity associated with multiple sclerosis (MS) and spinal cord injury. For further information, please visit http://www.gwpharm.com.

1 NIH Tuberous Sclerosis Fact Sheet. https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Tuberous-Sclerosis-Fact-Sheet. 2 Prevalence and incidence or rare diseases: Bibliographic data.https://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf3 TS Alliance Website. https://www.tsalliance.org/. Accessed November 19, 2019.4 de Vries PJ, Belousova E, Benedik MP, et al. TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study. Orphanet J Rare Dis. 2018;13(1):157.5 Kwan P., Brodie M.J. Early identification of refractory epilepsy. N. Engl. J. Med. 2000;342(5):314319.6 French JA. Refractory epilepsy: clinical overview. Epilepsia. 2007;48 Suppl 1:3-7.

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GW Pharmaceuticals submits Type II Variation Application to the European Medicines Agency (EMA) to expand the use of EPIDYOLEX, (cannabidiol) oral...

In many respects, the brain is a black box. The organ where our knowledge is derived is, ironically, also the one where much of the knowledge for its inner workings are lacking. However, researchers have devoted their lives to understanding the enigmatic organ and work tirelessly to prevent diseases that deprive it of its primary functions. For instance, new research from a team of investigators led by scientists at Memorial Sloan Kettering (MSK) has uncovered new findings that show how stress-induced changes in protein connections in the brain contribute to the cognitive decline seen in Alzheimers disease (AD).

Amazingly, the researchers were able to reverse this malfunctioning protein network and its associated cognitive decline in mice, using an experimental drug. Findings from the new studypublished recently in Nature Communications through an article entitled The epichaperome is a mediator of toxic hippocampal stress and leads to protein connectivity-based dysfunctionsuggest a new way to look at how Alzheimers develops in the brain by focusing on protein networks.

The research team used laboratory, mouse, and brain-tissue studies to examine the epichaperomea dysregulated network of proteins that affects how cells communicate and accelerate the course of disease.

To find out why epichaperomes were prevalent in Alzheimers, we used a new omics method, we call chaperomics, that allows us to assess functional outcomes of connectivity changes between normal individuals and those with Alzheimers, explained senior study investigator Gabriela Chiosis, PhD, a professor in the department of molecular pharmacology and chemistryat MSK. This new technology has a profound capacity for high throughput. Although chaperomics generates massive datasets, Chiosis states data analysis is meant to be readily accessible, indicating The bioinformatics platforms are straightforward and easy to comprehend, rather than adding additional complexity to these large protein connectivity-based results.

Various stressorssuch as genetic risk factors, vascular injury, and diabetescan damage brain circuitry in AD. According to this new study, these stressors seem to interact with proteins and contribute to toxic changes that begin in the hippocampus, a brain region involved in learning and memory. The researchers explored how these protein networks stop working properly and can be restored.

We used cellular and animal models as well as human biospecimens to show that AD-related stressors mediate global disturbances in dynamic intra- and inter-neuronal networks through pathologic rewiring of the chaperome system into epichaperomes, the authors wrote. These structures provide the backbone upon which proteome-wide connectivity, and in turn, protein networks become disturbed and ultimately dysfunctional.

Much like faulty wires in a circuit board that lead to network failure, epichaperomes seem to remodel cellular processes that, in turn, rewire protein connections supporting normal brain function. The resulting imbalance in brain circuitrywhich the authors call protein connectivity-based dysfunctionunderlies synaptic failure and other neurodegenerative processes. The researchers studied a cellular model of Alzheimers and a mouse model of the protein tau, as well as human brain tissue, which showed significantly more epichaperomes in individuals who had Alzheimers than in cognitively healthy people.

Based on their discoveries, Chiosis and her colleagues developed a new term to describe this phenomenonprotein connectivitybased dysfunction or PCBD. Many people who study Alzheimers are thinking about circuits in the brain. But theres no clear understanding of how stressors due to aging and the environment change the way proteins interact, noted collaborating scientist and study co-author Stephen Ginsberg, PhD, an associate professor at the Center for Dementia Research at the Nathan Kline Institute and departments of psychiatry, neuroscience & physiology and the NYU neuroscience institute at the NYU School of Medicine. Our research demonstrates that epichaperome formation rewires brain circuitry in Alzheimers by enabling proteins to misconnect, leading to downstream PCBD and cognitive decline.

In the current study, the research team treated young and old mice bred to have Alzheimers with an epichaperome inhibitor they developed, called PU-AD, three times per week for three to four months. The treated mice performed better on memory and learning tests than untreated mice had less tau (a protein seen in AD) and survived longer. Whats more, their brains looked like those of normal mice. PU-AD inhibited the faulty protein networks created by epichaperomes by correcting how the proteins connected and promoting nerve-cell survival.

We show at cellular and target organ levels that network connectivity and functional imbalances revert to normal levels upon epichaperome inhibition, the authors concluded. We provide proof-of-principle to propose AD is a PCBDopathy, a disease of proteome-wide connectivity defects mediated by maladaptive epichaperomes.

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Alzheimer's Brains Short Circuited by Defective Protein Connections - Genetic Engineering & Biotechnology News

LA JOLLA, Calif.--(BUSINESS WIRE)--DermTech, Inc. (NASDAQ: DMTK) (DermTech), a leader in precision dermatology enabled by a non-invasive skin genomics platform, today announced that SKIN, the official journal of the National Society for Cutaneous Medicine, has published data showing that combining TERT DNA mutation analyses with DermTechs Pigmented Lesion Assay (the DermTech PLA) improved the test sensitivity for detecting melanoma to 97%, up from a sensitivity of 91% without TERT.

"Clinicians average 15-25 biopsies before a single melanoma diagnosis is made," said the lead author on the study, Stephanie Jackson Cullison, MD, PhD, Dermatology, University of Pittsburgh. "Biopsies cause discomfort and scarring for patients, and there is still a 17% chance of missing melanoma with this approach. Non-invasive analysis of gene expression and TERT mutations provides insight into the biological risk of a pigmented lesion without putting patients through potentially unnecessary procedures."

"This study points to the value of having additional genetic information and objective diagnostic tools to assess disease risk beyond what can be ascertained visually," said Laura K. Ferris, M.D., PhD, associate professor, Dermatology, University of Pittsburgh.

The study assessed 103 pigmented skin lesions clinically suspicious for melanoma with the objective of evaluating the expression of LINC, PRAME and select melanoma driver mutations. Samples from clinically concerning lesions, with one or more ABCDE criteria, represent both clinically-challenging borderline lesions as well as lesions at both ends of the severity spectrum. Lesions were first sampled using the DermTech PLA non-invasive adhesive patch test, and then each lesion was surgically biopsied immediately afterwards for standard histopathological diagnoses. The study shows that:

This study supports the addition of TERT to the PLA test to improve sensitivity of the test. TERT by itself has been shown by other investigators to provide a reasonable sensitivity and high specificity in differentiating benign from malignant lesions.1 The PLA plus TERT can serve as an important test to spare patients unnecessary biopsies and excisions all while enabling the detection of melanoma at the earliest stages, said John Dobak, M.D., Chief Executive Officer of DermTech.

About DermTech:

DermTech is the leading genomics company in dermatology and is creating a new category of medicine, precision dermatology, enabled by our non-invasive skin genomics platform. DermTechs mission is to transform the practice of dermatology through more accurate diagnosis and treatment, and the elimination of unnecessary surgery, leading to improved patient care and lower costs. DermTech provides genomic analysis of skin samples collected non-invasively using an adhesive patch rather than a scalpel. DermTech markets and develops products that facilitate the early detection of skin cancers, and is developing products that assess inflammatory diseases and customize drug treatments. For additional information on DermTech, please visit DermTechs investor relations site at: http://www.dermtech.com.

This press release includes forward-looking statements within the meaning of the safe harbor provisions of the Private Securities Litigation Reform Act of 1995. The expectations, estimates, and projections of DermTech may differ from its actual results and consequently, you should not rely on these forward-looking statements as predictions of future events. Words such as expect, estimate, project, budget, forecast, anticipate, intend, plan, may, will, could, should, believes, predicts, potential, continue, and similar expressions are intended to identify such forward-looking statements. These forward-looking statements include, without limitation, expectations with respect to the performance, patient benefits and cost-effectiveness of the DermTech PLA and the market opportunity therefor. These forward-looking statements involve significant risks and uncertainties that could cause the actual results to differ materially from the expected results. Most of these factors are outside of the control of DermTech and are difficult to predict. Factors that may cause such differences include, but are not limited to: (1) the outcome of any legal proceedings that may be instituted against DermTech; (2) DermTechs ability to obtain additional funding to develop and market its products; (3) the existence of favorable or unfavorable clinical guidelines for DermTechs tests; (4) the reimbursement of DermTechs tests by Medicare and private payors; (5) the ability of patients or healthcare providers to obtain coverage of or sufficient reimbursement for DermTechs products; (6) DermTechs ability to grow, manage growth and retain its key employees; (7) changes in applicable laws or regulations; (8) the market adoption and demand for DermTechs products and services together with the possibility that DermTech may be adversely affected by other economic, business, and/or competitive factors; and (9) other risks and uncertainties included in (x) the Risk Factors section of the most recent Annual Report on Form 10K filed with the Securities and Exchange Commission (the SEC) by the company, and (y) other documents filed or to be filed with the SEC by the company. DermTech cautions that the foregoing list of factors is not exclusive. You should not place undue reliance upon any forward-looking statements, which speak only as of the date made. DermTech does not undertake or accept any obligation or undertaking to release publicly any updates or revisions to any forward-looking statements to reflect any change in its expectations or any change in events, conditions, or circumstances on which any such statement is based.

1The Genetic Evolution of Melanoma from Precursor Lesions ...." 12 Nov. 2015, https://www.nejm.org/doi/full/10.1056/NEJMoa1502583.

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New Study Shows Combining TERT Mutation Analyses With DermTech's PLA Provides Improved Sensitivity for Detecting Melanoma With Non-invasive Patches -...

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders. Medical genetics differs from human genetics in that human genetics is a field of scientific research that may or may not apply to medicine, while medical genetics refers to the application of genetics to medical care. For example, research on the causes and inheritance of genetic disorders would be considered within both human genetics and medical genetics, while the diagnosis, management, and counselling people with genetic disorders would be considered part of medical genetics.

In contrast, the study of typically non-medical phenotypes such as the genetics of eye color would be considered part of human genetics, but not necessarily relevant to medical genetics (except in situations such as albinism). Genetic medicine is a newer term for medical genetics and incorporates areas such as gene therapy, personalized medicine, and the rapidly emerging new medical specialty, predictive medicine.

Medical genetics encompasses many different areas, including clinical practice of physicians, genetic counselors, and nutritionists, clinical diagnostic laboratory activities, and research into the causes and inheritance of genetic disorders. Examples of conditions that fall within the scope of medical genetics include birth defects and dysmorphology, mental retardation, autism, mitochondrial disorders, skeletal dysplasia, connective tissue disorders, cancer genetics, teratogens, and prenatal diagnosis. Medical genetics is increasingly becoming relevant to many common diseases. Overlaps with other medical specialties are beginning to emerge, as recent advances in genetics are revealing etiologies for neurologic, endocrine, cardiovascular, pulmonary, ophthalmologic, renal, psychiatric, and dermatologic conditions. The medical genetics community is increasingly involved with individuals who have undertaken elective genetic and genomic testing.

In some ways, many of the individual fields within medical genetics are hybrids between clinical care and research. This is due in part to recent advances in science and technology (for example, see the Human genome project) that have enabled an unprecedented understanding of genetic disorders.

Clinical genetics is the practice of clinical medicine with particular attention to hereditary disorders. Referrals are made to genetics clinics for a variety of reasons, including birth defects, developmental delay, autism, epilepsy, short stature, and many others. Examples of genetic syndromes that are commonly seen in the genetics clinic include chromosomal rearrangements, Down syndrome, DiGeorge syndrome (22q11.2 Deletion Syndrome), Fragile X syndrome, Marfan syndrome, Neurofibromatosis, Turner syndrome, and Williams syndrome.

In the United States, Doctors who practice clinical genetics are accredited by the American Board of Medical Genetics and Genomics (ABMGG).[1] In order to become a board-certified practitioner of Clinical Genetics, a physician must complete a minimum of 24 months of training in a program accredited by the ABMGG. Individuals seeking acceptance into clinical genetics training programs must hold an M.D. or D.O. degree (or their equivalent) and have completed a minimum of 24 months of training in an ACGME-accredited residency program in internal medicine, pediatrics, obstetrics and gynecology, or other medical specialty.[2]

Metabolic (or biochemical) genetics involves the diagnosis and management of inborn errors of metabolism in which patients have enzymatic deficiencies that perturb biochemical pathways involved in metabolism of carbohydrates, amino acids, and lipids. Examples of metabolic disorders include galactosemia, glycogen storage disease, lysosomal storage disorders, metabolic acidosis, peroxisomal disorders, phenylketonuria, and urea cycle disorders.

Cytogenetics is the study of chromosomes and chromosome abnormalities. While cytogenetics historically relied on microscopy to analyze chromosomes, new molecular technologies such as array comparative genomic hybridization are now becoming widely used. Examples of chromosome abnormalities include aneuploidy, chromosomal rearrangements, and genomic deletion/duplication disorders.

Molecular genetics involves the discovery of and laboratory testing for DNA mutations that underlie many single gene disorders. Examples of single gene disorders include achondroplasia, cystic fibrosis, Duchenne muscular dystrophy, hereditary breast cancer (BRCA1/2), Huntington disease, Marfan syndrome, Noonan syndrome, and Rett syndrome. Molecular tests are also used in the diagnosis of syndromes involving epigenetic abnormalities, such as Angelman syndrome, Beckwith-Wiedemann syndrome, Prader-willi syndrome, and uniparental disomy.

Mitochondrial genetics concerns the diagnosis and management of mitochondrial disorders, which have a molecular basis but often result in biochemical abnormalities due to deficient energy production.

There exists some overlap between medical genetic diagnostic laboratories and molecular pathology.

Genetic counseling is the process of providing information about genetic conditions, diagnostic testing, and risks in other family members, within the framework of nondirective counseling. Genetic counselors are non-physician members of the medical genetics team who specialize in family risk assessment and counseling of patients regarding genetic disorders. The precise role of the genetic counselor varies somewhat depending on the disorder.When working alongside geneticists, genetic counselors normally specialize in pediatric genetics which focuses on developmental abnormalities present in newborns, infants or children. The major goal of pediatric counseling is attempting to explain the genetic basis behind the child's developmental concerns in a compassionate and articulated manner that allows the potentially distressed or frustrated parents to easily understand the information. As well, genetic counselors normally take a family pedigree, which summarizes the medical history of the patient's family. This then aids the clinical geneticist in the differential diagnosis process and help determine which further steps should be taken to help the patient. [3]

Although genetics has its roots back in the 19th century with the work of the Bohemian monk Gregor Mendel and other pioneering scientists, human genetics emerged later. It started to develop, albeit slowly, during the first half of the 20th century. Mendelian (single-gene) inheritance was studied in a number of important disorders such as albinism, brachydactyly (short fingers and toes), and hemophilia. Mathematical approaches were also devised and applied to human genetics. Population genetics was created.

Medical genetics was a late developer, emerging largely after the close of World War II (1945) when the eugenics movement had fallen into disrepute. The Nazi misuse of eugenics sounded its death knell. Shorn of eugenics, a scientific approach could be used and was applied to human and medical genetics. Medical genetics saw an increasingly rapid rise in the second half of the 20th century and continues in the 21st century.

The clinical setting in which patients are evaluated determines the scope of practice, diagnostic, and therapeutic interventions. For the purposes of general discussion, the typical encounters between patients and genetic practitioners may involve:

Each patient will undergo a diagnostic evaluation tailored to their own particular presenting signs and symptoms. The geneticist will establish a differential diagnosis and recommend appropriate testing. These tests might evaluate for chromosomal disorders, inborn errors of metabolism, or single gene disorders.

Chromosome studies are used in the general genetics clinic to determine a cause for developmental delay/mental retardation, birth defects, dysmorphic features, and/or autism. Chromosome analysis is also performed in the prenatal setting to determine whether a fetus is affected with aneuploidy or other chromosome rearrangements. Finally, chromosome abnormalities are often detected in cancer samples. A large number of different methods have been developed for chromosome analysis:

Biochemical studies are performed to screen for imbalances of metabolites in the bodily fluid, usually the blood (plasma/serum) or urine, but also in cerebrospinal fluid (CSF). Specific tests of enzyme function (either in leukocytes, skin fibroblasts, liver, or muscle) are also employed under certain circumstances. In the US, the newborn screen incorporates biochemical tests to screen for treatable conditions such as galactosemia and phenylketonuria (PKU). Patients suspected to have a metabolic condition might undergo the following tests:

Each cell of the body contains the hereditary information (DNA) wrapped up in structures called chromosomes. Since genetic syndromes are typically the result of alterations of the chromosomes or genes, there is no treatment currently available that can correct the genetic alterations in every cell of the body. Therefore, there is currently no "cure" for genetic disorders. However, for many genetic syndromes there is treatment available to manage the symptoms. In some cases, particularly inborn errors of metabolism, the mechanism of disease is well understood and offers the potential for dietary and medical management to prevent or reduce the long-term complications. In other cases, infusion therapy is used to replace the missing enzyme. Current research is actively seeking to use gene therapy or other new medications to treat specific genetic disorders.

In general, metabolic disorders arise from enzyme deficiencies that disrupt normal metabolic pathways. For instance, in the hypothetical example:

Compound "A" is metabolized to "B" by enzyme "X", compound "B" is metabolized to "C" by enzyme "Y", and compound "C" is metabolized to "D" by enzyme "Z".If enzyme "Z" is missing, compound "D" will be missing, while compounds "A", "B", and "C" will build up. The pathogenesis of this particular condition could result from lack of compound "D", if it is critical for some cellular function, or from toxicity due to excess "A", "B", and/or "C", or from toxicity due to the excess of "E" which is normally only present in small amounts and only accumulates when "C" is in excess. Treatment of the metabolic disorder could be achieved through dietary supplementation of compound "D" and dietary restriction of compounds "A", "B", and/or "C" or by treatment with a medication that promoted disposal of excess "A", "B", "C" or "E". Another approach that can be taken is enzyme replacement therapy, in which a patient is given an infusion of the missing enzyme "Z" or cofactor therapy to increase the efficacy of any residual "Z" activity.

Dietary restriction and supplementation are key measures taken in several well-known metabolic disorders, including galactosemia, phenylketonuria (PKU), maple syrup urine disease, organic acidurias and urea cycle disorders. Such restrictive diets can be difficult for the patient and family to maintain, and require close consultation with a nutritionist who has special experience in metabolic disorders. The composition of the diet will change depending on the caloric needs of the growing child and special attention is needed during a pregnancy if a woman is affected with one of these disorders.

Medical approaches include enhancement of residual enzyme activity (in cases where the enzyme is made but is not functioning properly), inhibition of other enzymes in the biochemical pathway to prevent buildup of a toxic compound, or diversion of a toxic compound to another form that can be excreted. Examples include the use of high doses of pyridoxine (vitamin B6) in some patients with homocystinuria to boost the activity of the residual cystathione synthase enzyme, administration of biotin to restore activity of several enzymes affected by deficiency of biotinidase, treatment with NTBC in Tyrosinemia to inhibit the production of succinylacetone which causes liver toxicity, and the use of sodium benzoate to decrease ammonia build-up in urea cycle disorders.

Certain lysosomal storage diseases are treated with infusions of a recombinant enzyme (produced in a laboratory), which can reduce the accumulation of the compounds in various tissues. Examples include Gaucher disease, Fabry disease, Mucopolysaccharidoses and Glycogen storage disease type II. Such treatments are limited by the ability of the enzyme to reach the affected areas (the blood brain barrier prevents enzyme from reaching the brain, for example), and can sometimes be associated with allergic reactions. The long-term clinical effectiveness of enzyme replacement therapies vary widely among different disorders.

There are a variety of career paths within the field of medical genetics, and naturally the training required for each area differs considerably. The information included in this section applies to the typical pathways in the United States and there may be differences in other countries. US practitioners in clinical, counseling, or diagnostic subspecialties generally obtain board certification through the American Board of Medical Genetics.

Genetic information provides a unique type of knowledge about an individual and his/her family, fundamentally different from a typically laboratory test that provides a "snapshot" of an individual's health status. The unique status of genetic information and inherited disease has a number of ramifications with regard to ethical, legal, and societal concerns.

On 19 March 2015, scientists urged a worldwide ban on clinical use of methods, particularly the use of CRISPR and zinc finger, to edit the human genome in a way that can be inherited.[4][5][6][7] In April 2015 and April 2016, Chinese researchers reported results of basic research to edit the DNA of non-viable human embryos using CRISPR.[8][9][10] In February 2016, British scientists were given permission by regulators to genetically modify human embryos by using CRISPR and related techniques on condition that the embryos were destroyed within seven days.[11] In June 2016 the Dutch government was reported to be planning to follow suit with similar regulations which would specify a 14-day limit.[12]

The more empirical approach to human and medical genetics was formalized by the founding in 1948 of the American Society of Human Genetics. The Society first began annual meetings that year (1948) and its international counterpart, the International Congress of Human Genetics, has met every 5 years since its inception in 1956. The Society publishes the American Journal of Human Genetics on a monthly basis.

Medical genetics is now recognized as a distinct medical specialty in the U.S. with its own approved board (the American Board of Medical Genetics) and clinical specialty college (the American College of Medical Genetics). The College holds an annual scientific meeting, publishes a monthly journal, Genetics in Medicine, and issues position papers and clinical practice guidelines on a variety of topics relevant to human genetics.

The broad range of research in medical genetics reflects the overall scope of this field, including basic research on genetic inheritance and the human genome, mechanisms of genetic and metabolic disorders, translational research on new treatment modalities, and the impact of genetic testing

Basic research geneticists usually undertake research in universities, biotechnology firms and research institutes.

Sometimes the link between a disease and an unusual gene variant is more subtle. The genetic architecture of common diseases is an important factor in determining the extent to which patterns of genetic variation influence group differences in health outcomes.[13][14][15] According to the common disease/common variant hypothesis, common variants present in the ancestral population before the dispersal of modern humans from Africa play an important role in human diseases.[16] Genetic variants associated with Alzheimer disease, deep venous thrombosis, Crohn disease, and type 2 diabetes appear to adhere to this model.[17] However, the generality of the model has not yet been established and, in some cases, is in doubt.[14][18][19] Some diseases, such as many common cancers, appear not to be well described by the common disease/common variant model.[20]

Another possibility is that common diseases arise in part through the action of combinations of variants that are individually rare.[21][22] Most of the disease-associated alleles discovered to date have been rare, and rare variants are more likely than common variants to be differentially distributed among groups distinguished by ancestry.[20][23] However, groups could harbor different, though perhaps overlapping, sets of rare variants, which would reduce contrasts between groups in the incidence of the disease.

The number of variants contributing to a disease and the interactions among those variants also could influence the distribution of diseases among groups. The difficulty that has been encountered in finding contributory alleles for complex diseases and in replicating positive associations suggests that many complex diseases involve numerous variants rather than a moderate number of alleles, and the influence of any given variant may depend in critical ways on the genetic and environmental background.[18][24][25][26] If many alleles are required to increase susceptibility to a disease, the odds are low that the necessary combination of alleles would become concentrated in a particular group purely through drift.[27]

One area in which population categories can be important considerations in genetics research is in controlling for confounding between population substructure, environmental exposures, and health outcomes. Association studies can produce spurious results if cases and controls have differing allele frequencies for genes that are not related to the disease being studied,[28] although the magnitude of this problem in genetic association studies is subject to debate.[29][30] Various methods have been developed to detect and account for population substructure,[31][32] but these methods can be difficult to apply in practice.[33]

Population substructure also can be used to advantage in genetic association studies. For example, populations that represent recent mixtures of geographically separated ancestral groups can exhibit longer-range linkage disequilibrium between susceptibility alleles and genetic markers than is the case for other populations.[34][35][36][37] Genetic studies can use this admixture linkage disequilibrium to search for disease alleles with fewer markers than would be needed otherwise. Association studies also can take advantage of the contrasting experiences of racial or ethnic groups, including migrant groups, to search for interactions between particular alleles and environmental factors that might influence health.[38][39]

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Medical genetics - Wikipedia

Ahmad Farajzadeh-Sheikh, 1, 2 Mohammad Savari, 1, 2 Khadijeh Ahmadi, 2, 3 Hossein Hosseini Nave, 4 Mojtaba Shahin, 5 Maryam Afzali 2

1Department of Microbiology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran; 2Infectious and Tropical Diseases Research Center, Health Research Institute, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran; 3Abadan Faculty of Medical Sciences, Abadan, Iran; 4Department of Microbiology and Virology, School of Medicine, Kerman University of Medical Sciences, Kerman, Iran; 5Department of Medical Laboratory Sciences, Faculty of Medical Sciences, Islamic Azad University, Arak, Iran

Correspondence: Maryam AfzaliDepartment of Microbiology, School of Medicine, Ahvaz Jundishapur University of Medical Sciences, Golestan Blvd 39345-61355, Ahvaz, IranTel +09156127753Fax +98-61-3333 2036Email afzalimaryam@ymail.com

Background: Entero-invasive E. coli (EIEC) is one of the causes of bacillary dysentery in adults and children. The ability of EIEC to invade and colonize the surface of epithelial cells is influenced by many virulence factors. This study aimed to investigate the distribution of virulence factor genes in EIEC strains isolated from patients with diarrhea in Ahvaz, Iran, as well as the genetic diversity between these isolates by Multilocus variable-number tandem repeat analysis (MLVA).Materials and Methods: A total of 581 diarrheic stool samples were collected from patients with diarrhea attending two hospitals, in Ahvaz, Iran. The E. coli strains were identified by biochemical methods. Subsequently, all E. coli isolates were identified as EIEC by polymerase chain reaction (PCR) for the ipaH gene. The EIEC isolates evaluated by PCR for the presence of 8 virulence genes (ial, sen, virF, invE, sat, sigA, pic, and sepA). All EIEC strains were genotyped by the MLVA typing method.Results: A total of 13 EIEC isolates were identified. The presence of ial, virF, invE, sen, sigA, pic, and sat genes was confirmed among 92.3%, 84.6%, 84.6%, 76.9%, 69.2%, and 15.3% of EIEC isolates, respectively. On the other hand, none of the isolates were positive for the sepA gene. The EIEC isolates were divided into 11 MLVA types.Conclusion: Our results showed a high distribution of virulence genes among EIEC isolates in our region. This study showed that MLVA is a promising typing technique for epidemiological studies. MLVA can supply data in the form of codes that can be saved in the database and easily shared among laboratories, research institutes, and even hospitals.

Keywords: entero-invasive Escherichia coli, diarrhea, virulence factor, MLVA

This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License.By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.

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Distribution of Genes Encoding Virulence Factors and the Genetic Diver | IDR - Dove Medical Press

The NHS states that it will be the world-leading healthcare system in its use of cutting-edge genomic technologies to predict and diagnose inherited and acquired disease, and to personalise treatments and interventions. As all diseases are either inherited or acquired, this is no modest claim.

This approach to medical care is known as precision medicine, and given the hype that surrounds the model, you might be forgiven for thinking that the usual practice of imprecise medicine is greatly inferior. And yet it has been the routine and, in many respects, indiscriminate use of effective treatments for a range of common diseases that has improved the health of large numbers of patients over the past few decades.

Precision medicine assumes that genes play a big role in causing diseases and that new treatments targeting genes and their processes can have significant benefits. The government is so enthusiastic about this new approach that in 2019 it offered gene sequencing to the entire UK population, albeit for a fee. In announcing this initiative, Health Secretary Matt Hancock said there are huge benefits to sequencing as many genomes as we can every genome sequenced moves us a step closer to unlocking life-saving treatments.

But just how big are the benefits likely to be? How relevant is precision medicine to preventing and treating the diseases responsible for most premature deaths and hospital admissions in the UK, such as heart disease, stroke, hip fracture and dementia diseases where genetic links are not clear.

In a study of half a million participants in the UK Biobank project, 1.7 million separate gene variants were shown to be associated with heart disease. Yet in combination, these variants accounted for less than 3% of heart disease after considering known causes such as smoking and high cholesterol.

Precision medicine seems likely to offer most promise for preventing and treating less common diseases, as they are more likely to have a major genetic cause. The poster child for precision medicine is the drug trastuzumab (also known as Herceptin), which was developed following the discovery of HER2, a genetic factor implicated in about 20% of breast cancer cases.

Trastuzumab targets a specific biological mechanism that is involved in HER2 positive cancer, and treatment with this drug improves survival and reduces cancer recurrence. But the effects are not quite as remarkable as has been sometimes suggested. A meta-analysis of clinical trials reported that after ten years, 74% of patients treated with trastuzumab remained alive and recurrence-free compared with 62% of those who did not receive trastuzumab. A worthwhile effect for sure, but only for about 10-15% of patients.

Comparing these important but small gains with the impact of an imprecise approach taken to other diseases offers a stark contrast. For example, HIV used to be a death sentence. Today, 94% of people with the disease are still alive after 30 years, thanks to antiretroviral drugs. Similarly, deaths in the five-year period following a heart attack declined by 70% between 1979 and 2013, largely due to the routine use of drugs such as aspirin, ACE inhibitors and statins.

Interestingly, for both heart attacks and HIV, when efforts have been made to personalise treatment, it has generally led to worse outcomes; in large part as a consequence of doctors withholding treatments they believe may not be beneficial or could be dangerous for a particular person. Unfortunately, such clinical insights are more often wrong than right.

Its hard not to conclude that the nations health would be better served by the NHS if it aspired to be a global leader in the standardisation of care for common serious diseases. Lets not let the current enthusiasm for precision medicine blind us to the benefits of the imprecise medicine we know saves millions of lives every year.

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In defence of imprecise medicine: the benefits of routine treatments for common diseases - The Conversation UK

SOUTH SAN FRANCISCO, Calif., Jan. 10, 2020 /PRNewswire/ -- IDEAYA Biosciences, Inc. (NASDAQ:IDYA), an oncology-focused precision medicine company committed to the discovery and development of targeted therapeutics, announced that the company has entered into a Sponsored Research Agreement with Boston Children's Hospital for preclinical evaluation of the role of protein kinase C (PKC) in Sturge Weber syndrome (SWS), a rare neurocutaneous disorder characterized by capillary malformations and associated with mutations in GNAQ.

Under the agreement, IDEAYA will collaborate with and support research at Boston Children's Hospital in the laboratory of Dr. Joyce Bischoff, Ph.D., Research Associate, Department of Surgery and Professor, Harvard Medical School, who is Principal Investigator of the research studies. The preclinical research will evaluate IDE196, a potent, selective PKC inhibitor, in vitro to assess whether pharmacological inhibition of PKC in endothelial cells having GNAQ mutations will restore normal cell function, as well as in vivo to assess whether pharmacological inhibition of PKC can regulate blood vessel size in murine models that recapitulate enlarged vessels seen in SWS capillary malformations.

SWS is a rare disease characterized by a facial birthmark, neurological abnormalities (e.g. seizures) and glaucoma, which occurs in 1 to 20,000 to 50,000 live births. The disease is believed to be mediated by a somatic GNAQ mutation in skin or brain tissue which enhances signaling in the PKC pathway in a reported 88% (n=26) of SWS patients. (NEJM Shirley et al., May 2019). "SWS is a rare disease that can present debilitating symptoms for patients, such as choroidal hemangiomas which may lead to glaucoma. There are no current FDA approved treatments specifically developed for SWS highlighting the high unmet medical need for these patients," noted Dr. Bischoff, Ph.D.

IDE196 is a potent, selective, small molecule inhibitor of protein kinase C (PKC), which IDEAYA is evaluating in a Phase 1/2 basket trial in patients with Metastatic Uveal Melanoma or other solid tumors, such as cutaneous melanoma, having GNAQ or GNA11 hotspot mutations which enhance signaling in the PKC pathway. "We are excited to work with Boston Children's Hospital to evaluate IDE196 activity in preclinical models relevant to Sturge Weber, a rare disease believed to be driven by genetic mutation of GNAQ. This important work is part of our broader strategy to deliver precision medicine therapies for patients with GNAQ or GNA11 mutations, by targeting the underlying biology of the disease," said Yujiro S. Hata,Chief Executive Officer and President at IDEAYA Biosciences.

About IDEAYA Biosciences

IDEAYA is an oncology-focused precision medicine company committed to the discovery and development of targeted therapeutics for patient populations selected using molecular diagnostics. IDEAYA's approach integrates capabilities in identifying and validating translational biomarkers with small molecule drug discovery to select patient populations most likely to benefit from the targeted therapies IDEAYA is developing. IDEAYA is applying these capabilities across multiple classes of precision medicine, including direct targeting of oncogenic pathways and synthetic lethality which represents an emerging class of precision medicine targets.

Forward-Looking Statements

This press release contains forward-looking statements, including, but not limited to, statements related to IDE196 activity in preclinical models relevant to Sturge Weberand IDEAYA's ability to deliver precision medicine therapies. Such forward-looking statements involve substantial risks and uncertainties that could cause IDEAYA's preclinical and clinical development programs, future results, performance or achievements to differ significantly from those expressed or implied by the forward-looking statements. Such risks and uncertainties include, among others, the uncertainties inherent in the drug development process, including IDEAYA's programs' early stage of development, the process of designing and conducting preclinical and clinical trials, the regulatory approval processes, the timing of regulatory filings, the challenges associated with manufacturing drug products, IDEAYA's ability to successfully establish, protect and defend its intellectual property and other matters that could affect the sufficiency of existing cash to fund operations. IDEAYA undertakes no obligation to update or revise any forward-looking statements. For a further description of the risks and uncertainties that could cause actual results to differ from those expressed in these forward-looking statements, as well as risks relating to the business of IDEAYA in general, see IDEAYA's recent Quarterly Report on Form 10-Q filed on November 13, 2019 and any current and periodic reports filed with the U.S. Securities and Exchange Commission.

SOURCE IDEAYA Biosciences, Inc.

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IDEAYA Biosciences and Boston Children's Hospital Collaborate on Preclinical Evaluation of IDE196 for Sturge Weber Syndrome - a Rare Disease...

Puzzling injury: Some children who carry variants in a gene called ZNF292 have injured blood vessels in their brains.

Mutations in a gene called ZNF292 lead to a variety of developmental conditions, including autism and intellectual disability, according to a new study1.

ZNF292 encodes a protein that influences the expression of other genes. It is highly expressed in the developing human brain, particularly in the cerebellum, an area that controls voluntary movement and contributes to cognition. However, its function in neurodevelopment is unknown.

Scientists first linked ZNF292 to intellectual disability in a 2012 study. A 2018 analysis of five ZNF292 variants tied the gene to autism, but the work was preliminary2.

In the new study, researchers identified 28 people who have mutations in ZNF292. The participants come from six countries and are between 10 months and 24 years old. The group carries a total of 24 mutations in the gene, 23 of which are spontaneous meaning that they were not inherited from a parent.

The sheer number of families and children that have been identified so far has been quite high, says Ghayda Mirzaa, lead investigator and assistant professor of genetic medicine at Seattle Childrens Hospital in Washington.

All but one of the participants have intellectual disability. In total, 17 of the participants are suspected or confirmed to have autism and 9 are suspected or confirmed to have attention deficit hyperactivity disorder. All but two have speech delays, and four have had language regression or are minimally verbal.

Mirzaas team found an additional 15 people with mutations in the gene from 12 families. However, the data from these people were incomplete, so the researchers had to exclude them from the analysis. The team has connected with at least 10 other mutation carriers in the six weeks since the study was published in Genetics in Medicine.

The researchers have used their data to classify a new condition. However, it may be premature to call it a syndromic form of autism or intellectual disability, says Holly Stessman, assistant professor of pharmacology and neuroscience at Creighton University in Omaha, Nebraska, who was not involved in the work.

People with ZNF292 variants have a broad spectrum of physical traits. For instance, 11 of the people in the study have growth abnormalities such as short stature; 10 have low muscle tone; and 3 have stiff or mixed muscle tone. The researchers had access to magnetic resonance imaging scans for 17 of the participants: 9 show brain abnormalities such as atypically shaped regions, and 3 of those 9 appear to have blood-vessel injuries in the brain.

Nearly half of the participants also have unusual facial characteristics, including an undersized jaw or eyes that are unusually far apart. Vision problems, such as involuntary eye movement or crossed eyes, affect nine people in the group. Less common facial differences include prominent incisors and protruding ears.

Autism genes are often linked to a wide range of characteristics, says Santhosh Girirajan, associate professor of biochemistry and molecular biology at Pennsylvania State University, who was not involved in the study. Variability has become the rule now, rather than the exception, he says.

Mirzaa says her group plans to study more individuals with variants in ZNF292, and to investigate the genes function.

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Study ties gene active in developing brain to autism - Spectrum

Michigan Gov. Gretchen Whitmer appointed a number of faculty members and alumni of the Wayne State University School of Medicine to several state boards overseeing medicine and medical licensing.

Appointments to the Michigan Board of Medicine, which works with the Department of Licensing and Regulatory Affairs to oversee the practice of medical doctors ascertaining minimal entry-level competency of medical doctors and requiring continuing medical education during licensure include:

Bryan Little, M.D., Class of 1998, is the specialist in chief of Orthopedic Surgery at the Detroit Medical Center. The governor also appointed Dr. Little to the Michigan Task Force on Physicians Assistants. That entity works with the Department of Licensing and Regulatory affairs to oversee the practice of physicians assistants. The terms of both appointments expire Dec. 31, 2023.

Angela Trepanier, M.S., CGC, professor of Molecular Medicine and Genetics and director of the Genetic Counseling Masters Program at the School of Medicine. She will represent genetic counselors during her term, which expires Dec. 31, 2023.

Donald Tynes, M.D., Class of 1995, clinical assistant professor for the School of Medicine and chief medical officer of the Benton Harbor Health Center, will serve a term through Dec. 31, 2023.

Hsin Wang, M.D., Class of 1999, was appointed to the Michigan Board of Licensed Midwifery, which works with the Department of Licensing and Regulatory Affairs to establish and implement the licensure program for the practice of midwifery in the state. Dr. Wang is an obstetrician-gynecologist with the Detroit Medical Center and the director of the Pelvic Health Program for DMC Huron Valley-Sinai Hospital. Her term runs through Dec. 31, 2023.

Melissa Mafiah, M.D., Class of 2014, was appointed to the Michigan Board of Occupational Therapists for a term that expires Dec. 31, 2023. Dr. Mafiah is a physical medicine and rehabilitation physician at W.H. Beaumont Hospital. The board works with the Department of Licensing and Regulatory Affairs to promulgate rules for licensing occupational therapists and ascertaining minimal entry level competency of occupational therapists and occupational therapy assistants.

Michael Dunn, M.D., chief of Medicine at the Henry Ford West Bloomfield Hospital and the senior staff physician for the hospitals Pulmonary and Critical Care Medicine Division, is an assistant clinical professor of Medicine for the School of Medicine. He was appointed to the Michigan Board of Respiratory Care, which oversees the licensure requirements and standards for respiratory therapists. His appointment runs through Dec. 31, 2023.

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Faculty and alumni appointed to state medical boards - The South End

Due in large part to the J.P. Morgan Health Care conference in San Francisco, the biotechnology industrys marquee yearly confab, January is often a strong month for related equities and ETFs.

That conference can serve as a springboard for mergers and acquisitions activity and with the genomic space currently in the spotlight, an uptick in consolidation in that arena could benefit the Global X Genomics & Biotechnology ETF (Nasdaq: GNOM).

GNOM tracks the Solactive Genomics Index and seeks to invest in companies that potentially stand to benefit from further advances in the field of genomic science, such as companies involved in gene editing, genomic sequencing, genetic medicine/therapy, computational genomics, and biotechnology, according to Global X.

Companies are only eligible for inclusion if they generate at least 50% of their revenues from genomics related business operations. The index is market cap-weighted with a single security cap of 4.0% and a floor of 0.3%. The ETF provides exposure to CRISPR, gene editing and therapeutics companies. CRISPR, in particular, is an area to watch.

January is disproportionately represented both by a number of deals and dollar value over the past 5 years, Evercore ISI analyst Josh Schimmer wrote in a note out Wednesday morning, reports Josh Nathan-Kazis for Barrons. January has seen as high as 33% of a years total deals (5/15 in Jan 2018) and as high as 48% of a years total dollar value ($36bn/$76bn in Jan 2017).

GNOM tries to help investors take on a thematic multi-capitalization exposure to innovative elements that cover advancements in gene therapy bio-informatics, bio-inspired computing, molecular medicine, and pharmaceutical innovations. These advancements can also translate over to growth potential, potentially providing investors with long-term alpha with low correlation relative to traditional growth strategies.

Entering 2020, will companies look to keep their heads down with modest guidance? Schimmer wrote, according to Barrons. If so, we might see another choppy month, although the macro setup is quite different this time around with expectations around conservative price hikes already in sentiment.

For more thematic investing ideas, visit our Thematic Investing Channel.

The opinions and forecasts expressed herein are solely those of Tom Lydon, and may not actually come to pass. Information on this site should not be used or construed as an offer to sell, a solicitation of an offer to buy, or a recommendation for any product.

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Why This Thematic Healthcare Could be a January Winner - ETF Trends

Biofidelity assay has potential to make high precision, cost-effective and non-invasive diagnosis more widely available, improving treatment and patient outcomes

Cambridge, UK, 9th January 2020 Biofidelity Ltd, a company developing high performing novel molecular assays for the detection of targeted, low-frequency genetic mutations, today announced the successful completion of a study to detect key lung cancer mutations in collaboration with Agilent Technologies, a global leader in life sciences, diagnostics, and applied chemical markets.

The collaboration, using an assay developed by Biofidelity, demonstrated an improvement in sensitivity of 50 times that achieved with current FDA-approved PCR-based diagnostics, matching that of specialized NGS assays, which require error-correction technology, while providing a dramatic simplification of workflows from more than 100 steps, to just 4 (four). Assays were performed using standard laboratory instrumentation, demonstrating the potential for straightforward adoption of Biofidelitys panels in decentralised testing laboratories around the world.

As well as extremely high sensitivity, 100% specificity was achieved in the detection of multiplexed panels of mutations from both tissue and plasma, with no false positives observed across more than 750 assays. Analysis of results is also dramatically simpler than sequencing-based assays, providing physicians a clear, simple, actionable result, with a turnaround time of less than 3 hours, making the Biofidelity assay suitable for recurrent patient monitoring.

Genetic testing for lung cancer mutations is usually carried out through invasive tissue biopsy, an expensive procedure carrying significant risk for patients with advanced disease. Up to 10% of such tests fail due to the lack of sensitivity of current testing solutions and poor sample quality.

Liquid biopsy, or testing directly from the patients blood, offers a non-invasive alternative with significant potential benefits to patients. However, its use has been limited by the lack of cost-effective, robust and rapid tests which are sufficiently sensitive to enable detection of the very small fractions of tumor DNA present in such samples.

Of the nearly 2 million new cases of non-small-cell lung cancer (NSCLC) diagnosed each year worldwide, fewer than 5% of patients receive high-sensitivity, non-invasive genetic testing. The assay developed by Biofidelity could provide a simple solution, enabling access to high-precision genetic testing for more than 1.7m new NSCLC patients every year with a test that outperforms DNA sequencing in a fraction of the time.

Work was supported by InnovateUK grant number 105202 as part of the Investment Accelerator: Innovation in Precision Medicine program.

Dr Barnaby Balmforth, Chief Executive Officer of Biofidelity, commented: Our goal is to improve patient outcomes in oncology by enabling much greater access to the highest precision diagnostic tests. This collaboration with Agilent in lung cancer has again demonstrated that Biofidelitys molecular assays dramatically increase the effectiveness and speed of diagnosis, supporting early detection of disease, better targeting of therapies and improved patient monitoring. By combining diagnostic outperformance and rapid results in a simple, cost-efficient format using existing instrumentation, we believe we have the potential to bring high precision testing to many more NSCLC patients, substantially reducing the need for invasive biopsies.

Tad Weems, Managing Director, Agilent Early Stage Partnerships, commented: As both a scientific collaborator and an investor in the company, Agilent has been impressed by the data from Biofidelitys assays, which detected a selection of NSCLC DNA mutations at extremely low frequencies in both tissue and plasma samples without the need for DNA sequencing. Biofidelitys assays are specific and sensitive, with the potential to provide improved and rapid routine cancer diagnostics.

Notes To Editors

About Biofidelity

Biofidelity has developed a molecular assay with a simple workflow and fast time-to-result which can transform the detection of genetic abnormalities within a sample by reliably detecting large panels of DNA mutations at extremely low frequencies.

This assay has a simple workflow and is suitable for routine use in diagnostics labs around the world, without the need for investment in new instrumentation or infrastructure.

Biofidelity is developing genetic panels for use in precision medicine and patient monitoring across a range of diseases including NSCLC and colorectal cancer

Located in Cambridge, UK, Biofidelity is a private company founded in 2019.

For more information, visit http://www.biofidelity.com, or follow us on LinkedIn: Biofidelity.

Issued for and on behalf of Biofidelity by Instinctif Partners.For more information please contact:

BiofidelityDr Barnaby Balmforth, CEOT: +44 1223 358652E: info@biofidelity.com

Instinctif PartnersTim Watson / Genevieve WilsonT: +44 20 7457 2020E: Biofidelity@instinctif.com

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Biofidelity and Agilent complete successful molecular assay study for rapid and accurate detection of key lung cancer mutations - BioSpace