Daily Archives: December 11, 2019

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Genetics just got personal. So boasted the website of 23andMe in 2008, just after launching its DNA testing service.

As we entered this decade, a small cohort of companies 23andMe, its Silicon Valley neighbor Navigenics, and Icelandic competitor deCODE Genetics were selling a future of personalized medicine: Patients would hold the keys to longer and healthier lives by understanding the risks written into their DNA and working with their doctors to reduce them.

We all carry this information, and if we bring it together and democratize it, we could really change health care, 23andMe cofounder Anne Wojcicki told Time magazine when it dubbed the companys DNA test 2008s invention of the year, beating out Elon Musks Tesla Roadster.

But in reality, the 2010s would be when genetics got social. As the decade comes to a close, few of us have discussed our genes with our doctors, but millions of us have uploaded our DNA profiles to online databases to fill in the details of our family trees, explore our ethnic roots, and find people who share overlapping sequences of DNA.

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Its become like Facebook for genes, driven by the same fundamental human desire to connect. And, as with Mark Zuckerbergs social media behemoth, this is the decade we reckoned with what it really means to hand over some of our most personal data in the process.

A 23andMe saliva collection kit for DNA testing.

It all panned out differently from the way I imagined in 2009, when I paid $985 to deCODE and $399 to 23andMe to put my DNA into the service of science journalism. (I spared my then-employer, New Scientist magazine, the $2,500 charge for the boutique service offered by Navigenics.)

I was intrigued by the potential of DNA testing for personalized medicine, but from the beginning, I was also concerned about privacy. I imagined a future in which people could steal our medical secrets by testing the DNA we leave lying around on discarded tissues and coffee cups. In 2009, a colleague and I showed that all it took to hack my genome in this way was a credit card, a private email account, a mailing address, and DNA testing companies willing to do business without asking questions.

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Much of the rest of what I wrote about DNA testing back then reflected pushback from leading geneticists who argued that the companies visions of personalized medicine werent ready for primetime.

As I explored the reports offered by 23andMe and deCODE, I couldnt help but agree especially when deCODE wrongly concluded that I carry two copies of a variant of a gene that would give me a 40% lifetime chance of developing Alzheimers. (Luckily, it wasnt cause for panic. Id pored over my DNA in enough detail by then to know that I carry only one copy, giving me a still-elevated but much less scary lifetime risk of about 13%.)

Despite such glitches, it still seemed that medicine was where the payoffs of mainstream genetic testing were going to be. As costs to sequence the entire genome plummeted, I expected gene-testing firms to switch from using gene chips that scan hundreds of thousands of genetic markers to new sequencing technology that would allow them to record all 3 billion letters of our DNA.

So in 2012, eager to provide our readers with a preview of what was to come, New Scientist paid $999 for me to have my exome sequenced in a pilot project offered by 23andMe. This is the 1.5% of the genome that is read to make proteins and is where the variants that affect our health are most likely to lurk.

Experts at the Medical College of Wisconsin in Milwaukee analyzed my exome. While they werent at that point able to tell me much of medical significance that I didnt already know, the article I wrote from the experience in 2013 predicted a future in which doctors would routinely scour their patients genomes for potential health problems and prescribe drugs that have been specifically designed to correct the biochemical pathways concerned.

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Im glad I included an important caveat: This may take several decades.

By then, the revolution promised by 23andMe and its competitors was faltering. Navigenics and deCODE had both been acquired by bigger companies and stopped selling DNA tests directly to the public.

23andMe, backed by the deep pockets of Google and other Silicon Valley investors, had enough cash to continue. But it fell foul of the FDA, which had decided that the company was selling medical devices that needed official approval to be put on the market. In a 2013 warning letter, the FDA said that 23andMe had failed to provide adequate evidence that its tests produced accurate results. By the end of 2013, 23andMe had stopped offering assessments of health risks to new customers.

Since then, the company has slowly clawed its way back into the business of health. In 2015, it was given FDA approval to tell customers whether they were carriers for a number of inherited diseases; in 2017, it started providing new customers with assessments of health risks once more.

I recently updated my 23andMe account, getting tested on the latest version of its chip. My results included reports on my genetic risk of experiencing 13 medical conditions. Back in 2013, there were more than 100 such reports, plus assessments of my likely responses to a couple dozen drugs.

In the lab, discovery has continued at a pace, but relatively few findings have found their way into the clinic.

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If youve recently been pregnant, you were probably offered blood tests to tell whether your fetus had a serious genetic abnormality. And if youve been diagnosed with cancer, a biopsy may have been sequenced to look for mutations that make some drugs a good bet and other ones a bust. Neither would have been common a decade ago.

But the wider health care revolution envisaged by Wojcicki remains far off.

A few weeks ago, I saw my doctor to discuss my moderately high blood cholesterol and had a conversation that Id once predicted would be common by now. I had signed up for a project called MyGeneRank, which took my 23andMe data and calculated my genetic risk of experiencing coronary artery disease based on 57 genetic markers, identified in a 2015 study involving more than 180,000 people.

My genetic risk turns out to be fairly low. After I pulled out my phone and showed my doctor the app detailing my results, we decided to hold off on taking a statin for now, while I make an effort to improve my diet and exercise more. But it was clear from her reaction that patients dont usually show up wanting to talk about their DNA.

We have all these naysayers and an immense body of research that is not being used to help patients, said Eric Topol, director of the Scripps Research Translational Institute in La Jolla, California, which runs the MyGeneRank project.

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Joseph James DeAngelo, the suspected "Golden State Killer," appears in court for his arraignment in Sacramento, April 27, 2018.

23andMes collision with the FDA wound up being a turning point in ways I didnt anticipate at the time. From the start, the company included an assessment of customers ancestries as part of the package. But after the FDA cracked down, it pivoted to make ancestry and finding genetic relatives its main focus. Offering the test at just $99, 23andMe went on a marketing blitz to expand its customer base competing with a new rival.

Ancestry.com launched its genome-scanning service in May 2012 and has since gone head-to-head with 23andMe through dueling TV ads and Black Friday discount deals.

DNA tests became an affordable stocking filler, as millions of customers were sold a journey of self-discovery and human connection. We were introduced to new genetic relatives. And we were told that the results might make us want to trade in our lederhosen for a kilt or connect us to distant African ancestors.

Today, Ancestrys database contains some 15 million DNA profiles; 23andMes more than 10 million. Family Tree DNA and MyHeritage, the two other main players, have about 3.5 million DNA profiles between them. And for the most dedicated family history enthusiasts, there is GEDmatch, where customers can upload DNA profiles from any of the main testing companies and look for potential relatives. It contains about 1.2 million DNA profiles.

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So far, so much fun. But DNA testing can reveal uncomfortable truths, too. Families have been torn apart by the discovery that the man they call Dad is not the biological father of his children. Home DNA tests can also be used to show that a relative is a rapist or a killer.

That possibility burst into the public consciousness in April 2018, with the arrest of Joseph James DeAngelo, alleged to be the Golden State Killer responsible for at least 13 killings and more than 50 rapes in the 1970s and 1980s. DeAngelo was finally tracked down after DNA left at the scene of a 1980 double murder was matched to people in GEDmatch who were the killer's third or fourth cousins. Through months of painstaking work, investigators working with the genealogist Barbara Rae-Venter built family trees that converged on DeAngelo.

Genealogists had long realized that databases like GEDmatch could be used in this way, but had been wary of working with law enforcement fearing that DNA test customers would object to the idea of cops searching their DNA profiles and rummaging around in their family trees.

But the Golden State Killers crimes were so heinous that the anticipated backlash initially failed to materialize. Indeed, a May 2018 survey of more than 1,500 US adults found that 80% backed police using public genealogy databases to solve violent crimes.

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I was very surprised with the Golden State Killer case how positive the reaction was across the board, CeCe Moore, a genealogist known for her appearances on TV, told BuzzFeed News a couple of months after DeAngelos arrest.

The new science of forensic genetic genealogy quickly became a burgeoning business, as a company in Virginia called Parabon NanoLabs, which already had access to more than 100 crime scene samples through its efforts to produce facial reconstructions from DNA, teamed up with Moore to work cold cases through genealogy.

Before long, Parabon and Moore were identifying suspected killers and rapists at the rate of about one a week. Intrigued, my editor and I decided to see how easy it would be to identify 10 BuzzFeed employees from their DNA profiles, mimicking Parabons methods. In the end, I found four through matches to their relatives DNA profiles and another two thanks to their distinctive ancestry. It was clear that genetic genealogy was already a powerful investigative tool and would only get more so as DNA databases continued to grow.

A backlash did come, however, after two developments revealed by BuzzFeed News in 2019. In January, Family Tree DNA disclosed that it had allowed the FBI to search its database for partial matches to crime-scene samples since the previous fall without telling its customers. I feel they have violated my trust, Leah Larkin, a genetic genealogist based in Livermore, California, told BuzzFeed News at the time.

Then, in May, BuzzFeed News reported that police in Centerville, Utah, had convinced Curtis Rogers, a retired Florida businessperson who cofounded GEDmatch, to breach the sites own terms and conditions, which were supposed to restrict law enforcement use to investigations of homicides or sexual assaults. That allowed Parabon to use matches in the database to identify the perpetrator of a violent assault.

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Larkin and other genealogists condemned the move, calling it the start of a slippery slope that would see the method being used to investigate more trivial crimes.

As barbs flew between genealogists working with law enforcement and those who advocate for genetic privacy, GEDmatch responded with new terms of service that extended the definition of violent crime, but also required users to explicitly opt in for their DNA profiles to be included in law enforcement searches.

Overnight, GEDmatch became useless for criminal investigations. Since then, the number of users opting in for matching to crime-scene samples has slowly increased, and now stands at more than 200,000. But progress in cracking criminal cases has remained slow.

Now that cops have seen the power of forensic genetic genealogy, however, they dont want to let it go. In November, the New York Times revealed that a detective in Florida had obtained a warrant to search the entirety of GEDmatch, regardless of opt-ins. It seems only a matter of time before someone tries to serve a warrant to search the huge databases of 23andMe or Ancestry, which dont give cops access sparking legal battles that could go all the way to the Supreme Court.

Genetic privacy, barely mentioned as millions of us signed up to connect with family across the world and dig into our ancestral roots, is suddenly front and center.

This week, Rogers and the other cofounder of GEDmatch, John Olson, removed themselves from the heat when they sold GEDmatch to Verogen, a company in San Diego that makes equipment to sequence crime-scene DNA. Verogen CEO Brett Williams told BuzzFeed News that he sees a business opportunity in charging police for access to the database but promised to respect users privacy. Were not going to force people to opt in, he said.

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But it isnt just whether cops can run searches against your DNA. 23andMe may not share your information with law enforcement, but customers are asked when they signed up whether if they are OK with their de-identified DNA being used for genetic research.

It might not be obvious when you fill in the consent form, but this lies at the heart of 23andMes business model. The reason the company pushed so hard to expand its database of DNA profiles is to use this data in research to develop new drugs, either by itself or by striking deals with pharmaceutical companies.

Ancestry has also asked its users to consent to participate in research, teaming up with partners that have included Calico, a Google spinoff researching ways to extend human lifespan.

You might be comfortable with all of this. You might not. You should definitely think about it because when the information is your own DNA, there really is no such thing as de-identified data.

That DNA profile is inextricably tied to your identity. It might be stripped of your name and decoupled from the credit card you used to pay for the test. But as 23andMe warns in its privacy policy: In the event of a data breach it is possible that your data could be associated with your identity, which could be used against your interests.

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And because you share a large part of your genome with close relatives, when you put your DNA profile into a companys database, you arent only making a decision for yourself: Their privacy is on the line, too.

Whether its due to concerns about privacy, a saturated market, or just that the novelty has worn off, sales of DNA ancestry tests are slowing. Ancestry has responded by offering a new product focused on health risks. Unlike 23andMe, it requires that tests are ordered through PWNHealth, a national network of doctors and genetic counselors.

Will this be the development that takes us back to the future I once imagined? Maybe so, but if the roller coaster of the past decade has taught me anything, its to be wary about making any predictions about our genetic future.

Peter Aldhous is a Science Reporter for BuzzFeed News and is based in San Francisco.

Contact Peter Aldhous at peter.aldhous@buzzfeed.com.

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Were Living In The DNA Future, But Its Not The One We Were Promised - BuzzFeed News

Led by researchers at Baylor College of Medicine, a study published in the journal Cell Stem Cell reveals a new mechanism that contributes to adult bone maintenance and repair and opens the possibility of developing therapeutic strategies for improving bone healing.

Adult bone repair relies on the activation of bone stem cells, which still remain poorly characterized, said corresponding author Dr. Dongsu Park, assistant professor of molecular and human genetics and of pathology and immunology at Baylor. Bone stem cells have been found both in the bone marrow inside the bone and also in the periosteum the outer layer of tissue that envelopes the bone. Previous studies have shown that these two populations of stem cells, although they share many characteristics, also have unique functions and specific regulatory mechanisms.

Of the two, periosteum stem cells are the least understood. It is known that they comprise a heterogeneous population of cells that can contribute to bone thickness, shaping and fracture repair, but scientists had not been able to distinguish between different subtypes of bone stem cells to study how their different functions are regulated.

In the current study, Park and his colleagues developed a method to identify different subpopulations of periosteum stem cells, define their contribution to bone fracture repair in live mouse models and identify specific factors that regulate their migration and proliferation under physiological conditions.

Periosteal stem cells are major contributors to bone healing

The researchers discovered specific markers for periosteum stem cells in mouse models. The markers identified a distinct subset of stem cells that contributes to life-long adult bone regeneration.

We also found that periosteum stem cells respond to mechanical injury by engaging in bone healing, Park said. They are important for healing bone fractures in the adult mice and, interestingly, their contribution to bone regeneration is higher than that of bone marrow stem cells.

In addition, the researchers found that periosteal stem cells also respond to inflammatory molecules called chemokines, which are usually produced during bone injury. In particular, they responded to chemokine CCL5.

Periosteal stem cells have receptors molecules on their cell surface that bind to CCL5, which sends a signal to the cells to migrate toward the injured bone and repair it. Deleting the CCL5 gene in mouse models resulted in marked defects in bone repair or delayed healing. When the researchers supplied CCL5 to CCL5-deficient mice, bone healing was accelerated.

The findings suggested potential therapeutic applications. For instance, in individuals with diabetes or osteoporosis in which bone healing is slow and may lead to other complications resulting from limited mobility, accelerating bone healing may reduce hospital stay and improve prognosis.

Our findings contribute to a better understanding of how adult bones heal. We think this is one of the first studies to show that bone stem cells are heterogeneous and that different subtypes have unique properties regulated by specific mechanisms, Park said. We have identified markers that enable us to tell bone stem cell subtypes apart and studied what each subtype contributes to bone health. Understanding how bone stem cell functions are regulated offers the possibility to develop novel therapeutic strategies to treat adult bone injuries.

Reference

Ortinau et al. (2019) Identification of Functionally Distinct Mx1+SMA+ Periosteal Skeletal Stem Cells. Cell Stem Cell. DOI: https://doi.org/10.1016/j.stem.2019.11.003

This article has been republished from the following materials. Note: material may have been edited for length and content. For further information, please contact the cited source.

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New Mechanism of Bone Maintenance and Repair Discovered - Technology Networks

Pumping iron: A gene called BOLA2 helps proteins capture iron, which is crucial for red blood cells to transport oxygen.

Design Cells / Science Photo Library

IN BRIEF

Extra copies of a gene called BOLA2 predispose people to autism and may protect against iron deficiency, according to a new study1.

Repeats of the gene make people susceptible to deletion or duplication of a region on chromosome 16 that is tied to autism. The benefit of anemia prevention may explain why the repeats evolved despite their potential harm.

The rearrangement is highly compensated by an adaptation, says co-lead researcher Alexandre Reymond, director of the Center for Integrative Genomics at the Universit de Lausanne in Switzerland.

The extra copies are unique to humans, who typically have six. Our closest ancestors Neanderthals, Denisovans and chimpanzees each have only two, suggesting that the repeats confer an important evolutionary advantage. What that advantage is, however, has been a mystery.

One clue lies in the genes function: BOLA2 helps proteins capture iron. Having fewer repeats is associated with anemia, the researchers found.

Its very interesting, says Emily Casanova, research assistant professor of biomedical sciences at the University of South Carolina in Greenville, who was not involved in the study. My only question is why BOLA2 duplications would have been selected for. What might have been some of the driving factors?

BOLA2 repeats flank a stretch of chromosome 16 called 16p11.2, a hotspot for deletions and duplications that can lead to autism. As eggs and sperm form, the BOLA2 repeats cause DNA to break and rejoin in unusual ways in the 16p11.2 region.

Reymond and his colleagues counted BOLA2 repeats in 130 people who have a deletion of 16p11.2 and in the genetic sequences of 635 controls from two data repositories.

They found that 16p11.2 deletion carriers tend to have fewer BOLA2 repeats than controls do: four as opposed to the usual six. The findings suggest that some BOLA2 copies are lost when deletions in 16p11.2 form.

Because BOLA2 helps proteins latch onto iron, the researchers wondered whether too little of it has consequences for red blood cells; iron is crucial for the cells to transport oxygen.

The researchers analyzed blood samples and medical information from 83 deletion carriers. They found that 8 of the 15 people with only three BOLA2 repeats have signs of anemia, compared with 5 of 68 who have four or more repeats.

The researchers found a similar pattern when they examined genetic and medical information for 379,474 people in the UK Biobank. They found anemia in 20 percent of people with a 16p11.2 deletion, compared with 5 percent of controls. (Anemias prevalence in people with a duplication is no different than in controls.)

Mice missing a copy of 16p11.2 also have low iron levels, and their red blood cells show signs of mild anemia, the team found. Two strains of mice that lack one or both of their copies of BOLA2 show similar traits. The findings were published 7 November in the American Journal of Human Genetics.

The results jibe with those from a March study, in which researchers found an increased risk of anemia in people with a 16p11.2 deletion2.

The link of the BOLA2 copy number to anemia is quite strong, says Bernard Crespi, professor of evolutionary biology at Simon Fraser University in Vancouver, Canada, who was not involved in the study. Why humans evolved a higher number of BOLA2 genes, thats the hard question.

The factors that selected for extra BOLA2 copies remain a mystery. Having extra BOLA2 might have been beneficial as early humans shifted away from a diet based on red meat to one that is less rich in iron, Reymond says. Or perhaps the repeats arose because they protect people from infections, he says: Many pathogens depend on iron they scavenge from their hosts, and BOLA2 might interfere with that process.

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Gene repeats tied to autism may prevent anemia - Spectrum

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The genetics behind the bitter taste of some sorghum plants and one of Africas most reviled bird species illustrates how human genetics, crops, and the environment influence one another in the process of plant domestication, according to new research.

The study untangles these factors to create a more complete look at crop domestication than is possible in other major crops, says Xianran Li, an adjunct associate professor in the agronomy department at Iowa State University and corresponding author of the paper in Nature Plants.

The study looks at how human genetics, and the presence of bird species with a taste for sorghum seeds might have influenced the traits farmers in Africa selected in their crops over thousands of years.

The unique geographic distribution in Africa of sorghum plants that contain condensed tannins, or biomolecules that often induce a bitter taste, provided one side of a domestication triangle that helped the researchers piece together the domestication puzzle, Li says.

Its a systematic view that gives us a full picture of domestication, he says. Looking at just one component only tells us part of the story.

Sorghum is a cereal crop first domesticated in Africa that remains a staple food throughout the continent. The researchers note that sorghum varieties with high levels of tannins commonly grow in eastern and southern Africa, while western African farmers tend to prefer varieties with low tannin content. In contrast, domestication processes in other continents removed condensed tannins from most other cereal crops, such as wheat, rice, and corn, due to the bitter taste they produce.

But farmers in south and east Africa grow many cultivars that retained tannin, which would seem to be a puzzling decision considering the taste and unfavorable nutritional values. Li says the condensed tannins were likely retained as a defense mechanism from the red-billed quelea, a bird species sometimes referred to as a feathered locust that can cause up to $50 million in economic losses in Africa every year from eating crops. Li and his coauthors found the distribution of sorghum cultivars with tannin correspond to areas with red-billed quelea populations.

They also consulted publicly accessible genotype information on human populations in Africa and found an associated distribution of the taste receptor TAS2R among Africans in regions that commonly grow sorghum with tannin. Taste receptors are molecules that facilitate the sensation of certain tastes, and the patterns in the distribution of TAS2R could make people living in those regions of Africa less susceptible to the bitter taste tannin causes.

Li calls this interaction among sorghum tannin, human taste receptors, and herbivorous birds a unique triangle that offers insight into crop domestication. And, because condensed tannins were bred out of other cereal crops, this kind of research is possible only with sorghum, he says.

Our investigation uncovered coevolution among humans, plants, and environments linked by condensed tannins, the first example of domestication triangle, Li says. The concept of a domestication triangle has been proposed previously and generally accepted. Discovering a concrete case, particularly with some molecular evidence, is very exciting. We think this study could help uncover future cases.

To arrive at their conclusions, the research team grew sorghum varieties with and without tannin and analyzed publicly available datasets on human genetics and wild bird populations in Africa to untangle how these factors interact with one another to influence the domestication of sorghum in Africa.

The experiments involving sorghum grown in Iowa found sparrows would feed on the seeds of plants without tannin but left alone the cultivars that contained tannin, reinforcing the concept that herbivore threats to sorghum crops prefer non-tannin varieties.

The whole discovery was driven by curiosity, after we observed the unexpected sparrow damage in our sorghum field, says Jianming Yu, professor of agronomy and chair in maize breeding. We really had no clue that our gene cloning project to find the pair of interacting genes underlying sorghum tannins would lead to this discovery.

Funding for the research came from USDA National Institute of Food and Agriculture, the National Science Foundation, the National Natural Science Foundation of China, Iowa States Raymond F. Baker Center for Plant Breeding, and the universitys Plant Sciences Institute.

Source: Iowa State University

Read more here:
Pesky birds, bitter crops, and taste show evolution 'triangle' - Futurity: Research News

Jens Carlsson of the UCD School of Biology is co-founder of the Area 52 research group that aims to solve a variety of genetic questions.

After completing his PhD in 2001, followed by a stint at the Danish Institute for Freshwater Research in Silkeborg, assistant professor Jens Carlsson travelled to the US in 2002 to work as a postdoc at the Virginia Institute for Marine Science.

In 2007, he was appointed a visiting associate professor at Duke University, North Carolina, to research the population structure of striped sea bass.

In 2009, he travelled to Ireland to work at University College Cork as a senior research fellow, which included work on deep sea vessels. Then, in 2012, he made the move to University College Dublin and established his research group, Area 52.

Too many people have been watching the CSI TV series and have strange ideas of how a modern genetics laboratory works JENS CARLSSON

I think I have had an interest in fish since I was introduced to fishing as a kid. While completing my BSc project, I was fascinated by the questions you could ask and answer using scientific approaches.

The freedom that academic research has for coming up with projects and then sourcing funding, to actually examine these questions, was probably the reason why I stayed on in science.

The research group Area 52 quickly developed when I started working in UCD. It is now a rather diverse group and we take on research questions from a wide range of disciplines from viral diseases in fish to identification of human remains.

It is the use of genetic methods that allows us to work with these very diverse questions and, so far, all organisms have DNA or RNA so there are a huge variety of questions that we can address.

This also means that we collaborate with a large number of colleagues. While we have the genetic expertise, we also need to work with people who understand the biology and ecology of the organisms.

When Area 52 started, it was only myself and my wife and lab manager in the lab group. But now it has grown significantly and consists of undergraduates, summer interns, visiting students, MSc students, PhD candidates, postdocs, research fellows and research scientists.

I believe that genetics has the capacity to answer questions that no other research field can do.

For example, when you look at marine fish, there are no clear barriers preventing different populations from mixing. However, this does not mean that the fish all belong to the same biological unit or population.

While fish from multiple biological units can mix at feeding areas, they often return to specific spawning sites with each spawning site representing a single biological unit.

Multiple species have been shown using genetics separated into different populations to represent different biological units. This has profound implications for the management of fisheries species, as the level where management needs to take place is natural biological units and this might differ depending on the time of the year.

You might have multiple populations mixing at feeding grounds and it is very difficult to say which fish came from which population when being caught in commercial fisheries as they tend to look the same. However, by using genetic tools we are able to say which individual belongs to which population.

Furthermore, Area 52 has a strong focus on developing non-invasive sampling methods for studies of terrestrial mammals such as elephants, zebras and giraffes primarily in Kenya.

It is often very difficult and invasive to collect genetic material for these animals. We focus on using scat samples that are completely non-invasive. The animal does its business and we collect the scat and use that as source of genetic material.

Area 52 often works with method development and these methods can obviously be used in the commercial world. For example, the management of fisheries species and the integrity of supply chains.

However, the main focus of the lab is in deploying the methods we develop in conservation and environmental monitoring of water ecosystems.

It is always difficult to find time to do the research. You are teaching, mentoring, doing research and administration. At the same time, you need to secure funding for your research and that is difficult.

This is not only because of the lack of time, but also because of the strong competition among researchers for the very limited funding. This means that you can spend significant time on writing a grant application and then it is not funded. I wish the success rate of grants would be higher.

Too many people have been watching the CSI TV series and have strange ideas of how a modern genetics laboratory works.

The big question is climate change and how that will affect distribution and survival of species. This is a very important question requiring collaboration among a large number of researchers from many different fields of science.

Are you a researcher with an interesting project to share? Let us know by emailing editorial@siliconrepublic.com with the subject line Science Uncovered.

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Fishy genetics: A behind-the-scenes look at UCD's Area 52 - Siliconrepublic.com

Hardly a week goes by without a report announcing the end of work as we know it.

In 2013, Oxford University academics Carl Frey and Michael Osborne were the first to capture this anxiety in a paper titled: The Future of Employment: How susceptible are jobs to computerisation?.

They concluded 47% of US jobs were threatened by automation. Since then, Frey has taken multiple opportunities to repeat his predictions of major labour market disruptions due to automation.

In the face of threats to employment, some progressive thinkers advocate jettisoning our work ethic and building a world without work.

If machines can do our work, why not reduce the working week drastically? We should be mature enough to decide what truly matters to us, without tying our identity to a job, or measuring happiness in dollars and professional status. Right?

Not quite.

The reality is that work is tied to our constitution as a species. And this fact is too often overlooked in discussions about the future of work.

Recent studies have raised alarms that advances in automation and artificial intelligence (AI) will leave all sectors open to the threat of machines replacing human workers.

The power of AI will supposedly, according to these studies, even make high-skilled specialists redundant - threatening medical practitioners, bank associates, and legal professionals.

Read more: The benefits of job automation are not likely to be shared equally

Predictions about the rise of the robots either take a pessimistic stance, focusing on disruptions to economic organisations, or view undoing work as an opportunity to move to a fairer social model.

However, these views disregard the central role work has played in humanitys development.

Philosophers including Karl Marx, Henri Bergson, and John Dewey argued that working is a defining trait of humans.

Findings over the past two decades have confirmed that features of modern Homo sapiens are directly tied to their tendency to work.

Three basic ideas of the old philosophers are reaffirmed by contemporary research in archaeology, anthropology and genetics.

First, humans havent evolved to fit into their environments as seamlessly as other animals. Humans have had to compensate for a lack of fit.

They did this by learning about the ecosystems around them, the plants and animals they could eat, and the natural processes they could use, or should avoid. This knowledge was applied to create instruments, tools and weapons.

Read more: Resume robot wars: how employees could match employers' use of tech in job applications

Very early on, humans mobilised their knowledge and skills to shape their immediate surroundings and become the dominant animal.

Knowledge of nature, technical skills and intervention in the environment are all characteristics of humans capacity to work. These allowed us to adapt to highly diverse geographies and climates.

Each new generation has to learn the skills and knowledge that will enable it to sustain its particular mode of survival.

Australian philosopher Kim Sterelny has shown in detail how evolution selected genetic traits that sustain humans capacity to learn, specifically by enhancing social behaviour and tolerance towards the young.

And as humans worked on nature, they also worked in ways that influenced their minds, and their bodies.

It has been demonstrated that cooperation in humans reaches a level unknown in other species. This cooperative capacity has its roots in each individuals dependency on the knowledge, skills and efforts of others.

No human is able to sustain themself on their own, and collaboration exceeds what each person can produce alone. Even the most brilliant astrophysicist calls the plumber to fix a broken toilet.

Humans have to work to survive, and this entails working with, and for, others.

Acknowledging the anthropological depth of work means admitting current scenarios advocating the end of work are not the right answer. They take an unrealistic view of who we are.

We need to recognise work as a human need. As Marx said:

labour has become not only a means of life, but lifes prime want.

The question should not be whether theres room for human work in an automated future. The question should be: how will human work find its place next to machines and robots?

Even if automation becomes widespread, well still apply our minds, bodies and hands to productive tasks. Well still experiment and learn from others.

If machines could truly do all human work, then theyd make humans redundant, as 2001: A Space Odyssey anticipated back in 1968. While this isnt a pleasant scenario, its not a likely one either.

Automation might bring major social and economic disruptions in the short-term, but it wont get rid of the need for humans to work.

Read more: Dont be alarmed: AI wont leave half the world unemployed

Human needs are also infinitely complex. Nobody can foretell what new activities, techniques, and consequent modes of working will fulfil future needs.

Even if we reject the modern work ethic, well still find ways to learn through action and emulate experts.

Human intelligence is geared towards producing useful goods, so well continue to look for purposeful activities, too. And well seek collaboration with others for mutual benefit.

This is the influence of work on us. We are heir to thousands of years of evolution, and it would be pretentious to assume evolution could stop with us.

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Work is a fundamental part of being human. Robots won't stop us doing it - The Conversation AU

ALISO VIEJO, Calif., Dec. 10, 2019 /PRNewswire/ --Researchers atAmbry Genetics(Ambry), a leading clinical genetic testing lab, will announce new data showing that conducting RNA and DNA tests for hereditary cancer risk at the same time identifies more patients with mutations that increase cancer risk than DNA testing alone. To be presented at the San Antonio Breast Cancer Symposium (SABCS) this week, the data come from a study of 746 patients with breast cancer that received +RNAinsight, paired RNA and DNA genetic testing for hereditary cancer risk.

Standard DNA testing for hereditary cancer risk excludes large portions of DNA, thereby missing some mutations. In addition, DNA testing can produce inconclusive results and fail to determine that an error in our DNA increases cancer risk. These limitations impact patients and their families because doctors may not have the information needed to recommend appropriate preventive, early detection, or therapeutic steps. Additionally, relatives may not be referred for genetic testing and obtain the care they would otherwise have gotten if they had learned they had mutations.

Adding RNA to DNA testing overcomes these limitations for a substantial number of patients as it provides considerably more evidence than DNA testing alone about whether our DNA has mutations.

The data showed that adding RNA genetic testing to DNA testing increased the diagnostic yield the number of people found to have a mutation that increases cancer risk across 16 hereditary breast and/or ovarian cancer genes. As a result of +RNAinsight, five breast cancer patients were identified to have mutations in clinically-actionable genes that would have otherwise been missed completely or the patient would have received inconclusive results if they had received DNA testing only. These findings included three women with mutations in BRCA1/2, one woman with a mutation in ATM, and one woman with a mutation in PMS2. Additionally, paired RNA and DNA genetic testing decreased the number of inconclusive results, giving patients more definitive answers about whether their breast cancers were hereditary. Additional results will be presented on an expanded breast cancer cohort at the meeting on Saturday, December 14th.

"These data further prove that paired RNA and DNA genetic testing for hereditary cancer should be the industry standard," said Holly LaDuca, MS, CGC, senior manager of Ambry's clinical affairs research. "Our research has consistently shown that +RNAinsight provides clinicians with more accurate results, better informing patient care."

Researchers from Ambry will also present at SABCS new data from a pre-and post-test clinician survey that assessed how genetic testing for hereditary cancer impacted medical management, such as screening recommendations. The survey found that positive genetic testing results frequently lead to changes in management recommendations in both high risk (e.g. BRCA1) and moderate risk (e.g. ATM) genes. Changes to mammogram, breast MRI, and/or preventive surgery options were reported in 77.3% of positive individuals. Moreover, medical management changes largely adhered to published guidelines, indicating that cliniciansare applying recommendations appropriately based on test results.

"With this survey data, clinicians are showing us that they truly do use genetic testing results to implement personalized recommendations, which can be life-saving for a patient," said Carrie Horton, MS, CGC, senior researcher in Ambry's clinical affairs team. "These data provide further evidence that genetic testing is essential to comprehensive cancer care. Continued study in this area will aid clinicians, laboratories, health plans, and ultimately patients."

Below are summaries of each of the four studies that Ambry will present at SABCS 2019.

Friday, December 13, 5:00- 7:00 PM CST

P5-07-06,Black M, et. al., Performance of Polygenic Risk Score Combined with Clinical Assessment for Breast Cancer Risk

Saturday, December 14, 7:00 9:00 AM CST

P6-08-35,Horton C, et. al., Impact of Multigene Panel Testing on Medical Management: Preliminary Results of a Pre- and Post- Test Clinician Survey

P6-08-08,LaDuca H, et. al., Concurrent DNA and RNA Genetic Testing Identifies More Patients with Hereditary Breast Cancer than DNA Testing Alone

P6-08-04,Yadav S, et. al., Germline Mutations in Cancer Predisposition Genes in Patients with Invasive Lobular Carcinoma of the Breast

ABOUT AMBRY GENETICS

Ambry Genetics, as part of Konica Minolta Precision Medicine, excels at translating scientific research into clinically actionable test results based upon a deep understanding of the human genome and the biology behind genetic disease. Our unparalleled track record of discoveries over 20 years, and growing database that continues to expand in collaboration with academic, corporate and pharmaceutical partners, means we are first to market with innovative products and comprehensive analysis that enable clinicians to confidently inform patient health decisions. We care about what happens to real people, their families, and the people they love, and remain dedicated to providing them and their clinicians with deeper knowledge and fresh insights, so together they can make informed, potentially life-altering healthcare decisions. For more information, please visitambrygen.com.

For more information on risk factors for hereditary cancer, please visit cancer.gov's fact sheet on hereditary cancer and genetic testing.

ABOUT +RNAINSIGHT

+RNAinsight, paired with Ambry Genetics' hereditary cancer DNA tests, uses next-generation sequencing to concurrently analyze a patient's DNA and RNA, another layer of genetic information. +RNAinsight identifies more patients who have mutations that increase their cancer risks than through standard DNA-only testing by overcoming limitations of DNA testing. +RNAinsight enables more accurate identification of patients with increased genetic risks for cancer, finds actionable results that may otherwise be missed, and decreases the frequency of inconclusive results. +RNAinsight is now available through doctors and genetic counselors around the country. For more information on +RNAinsight, please go toambrygen.com/RNAinsight.

Press Contact:Liz Squirepress@ambrygen.com (202) 617-4662

View original content:http://www.prnewswire.com/news-releases/new-data-from-ambry-genetics-showed-concurrent-rna-and-dna-testing-identified-more-patients-with-hereditary-breast-cancer-than-dna-testing-alone-300972165.html

SOURCE Ambry Genetics

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New Data from Ambry Genetics Showed Concurrent RNA and DNA Testing Identified More Patients with Hereditary Breast Cancer than DNA Testing Alone -...

The overwhelming majority of people have brown eyes, which causes these with blue or inexperienced eyes, for instance, to draw consideration. The colour of the eyes, straight associated to genetics, is said to some sort of mutation all through the course of the story. However who had been the first to undergo it?

In keeping with a bunch of genetic researchers from the College of Copenhagen, the first mutation in blue-eyed people dates us again to a Danish household hundreds of years in the past. As defined, the shade variation from brown to inexperienced will be simply defined in the quantity of melanin the iris possesses. Melanin is nothing apart from the pigment present in most dwelling issues and that creates eye shade, in addition to different sections comparable to pores and skin or hair.

In the case of people with blue eyes, this quantity of variation in melanin is minimal. After reviewing the knowledge collected and uncovered in the journal Human Genetics, a single particular person was recognized a father and whose genes had been widespread to 155 people in Denmark. Not solely in that nation had been discovered references, but in addition associated to different people from Turkey and Jordan.

After the report it was concluded that all people with blue eyes could be linked to the same ancestor. On the opposite that these with brown eyes and the place the variation of melanin is nearly fixed.

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Is it true that all people with blue eyes come from the same ancestor? - Sportsfinding

BOTHELL, Wash.--(BUSINESS WIRE)--Seattle Genetics, Inc. (Nasdaq:SGEN) today announced positive pivotal data from the HER2CLIMB trial evaluating tucatinib in patients with HER2-positive metastatic breast cancer (MBC) were presented at the 2019 San Antonio Breast Cancer Symposium (SABCS) and simultaneously published in the New England Journal of Medicine (NEJM). The HER2CLIMB trial compared tucatinib in combination with trastuzumab and capecitabine to trastuzumab and capecitabine alone in patients with unresectable locally advanced or metastatic HER2-positive breast cancer. Patients had previously received trastuzumab, pertuzumab and ado-trastuzumab emtansine (T-DM1). Patients had received a median of four prior lines of therapy overall and three lines in the metastatic setting. Forty-seven percent of the patients enrolled in the trial had brain metastases at the time of enrollment. HER2CLIMB is the first randomized pivotal trial completed to enroll patients with metastatic HER2-positive breast cancer who have untreated or previously treated and progressing brain metastases. Tucatinib is an oral, small molecule tyrosine kinase inhibitor (TKI) that is highly selective for HER2.

Following progression on trastuzumab, pertuzumab and T-DM1 in the metastatic HER2-positive breast cancer setting, there is no single standard of care regimen and clinical trial participation is often strongly encouraged. There is a significant unmet medical need for these patients, particularly those who develop brain metastases, said Rashmi Murthy, MD, MBE, Assistant Professor, Department of Breast Medical Oncology, Division of Cancer Medicine, The University of Texas MD Anderson Cancer Center. The addition of tucatinib to the commonly used combination of trastuzumab and capecitabine improved overall survival, reducing the risk of death by 34 percent compared to trastuzumab and capecitabine alone. The results from HER2CLIMB demonstrate tucatinib has the potential to become a new treatment option for patients who have been previously treated with multiple anti-HER2 agents, including patients with and without brain metastases.

Continued innovation to bring new therapies for the treatment of metastatic HER2-positive breast cancer is urgently needed, and we are encouraged by the impressive clinical activity demonstrated with the addition of tucatinib to trastuzumab and capecitabine in the HER2CLIMB trial, said Roger Dansey, M.D., Chief Medical Officer at Seattle Genetics. Tucatinib demonstrated a statistically significant and clinically meaningful benefit in overall survival, progression-free survival and objective response rate compared to the control arm. We plan to submit a New Drug Application (NDA) to the U.S. Food and Drug Administration and a Marketing Authorization Application (MAA) to the European Medicines Agency by the first quarter of 2020, with the goal of bringing a much-needed new medicine to patients.

Data presented at SABCS and published in NEJM include the primary endpoint of progression-free survival (PFS) as assessed by blinded independent central review (BICR) in the first 480 patients enrolled in the trial. HER2CLIMB enrolled a total of 612 patients to support the analyses of key secondary endpoints, including overall survival (OS) as well as progression-free survival (PFS) in patients with brain metastases at baseline.

Pivotal HER2CLIMB Trial Results

Efficacy:

Safety:

About HER2-Positive Breast Cancer

Patients with HER2-positive breast cancer have tumors with high levels of a protein called human epidermal growth factor receptor 2 (HER2), which promotes the aggressive spread of cancer cells. An estimated 271,270 new cases of invasive breast cancer will be diagnosed in the U.S. in 2019.1 Between 15 and 20 percent of breast cancer cases worldwide are HER2-positive.2 Historically, HER2-positive breast cancer tends to be more aggressive and more likely to recur than HER2-negative breast cancer.2, 3, 4 In patients with metastatic breast cancer, the most common site of first metastasis is in bone, followed by lung, brain, and liver.5, 6 Up to 50 percent of metastatic HER2-positive breast cancer patients develop brain metastases over time.2, 7 Despite recent treatment advances, there is still a significant need for new therapies that can impact metastatic disease, especially brain metastases. There are currently no approved therapies demonstrating progression-free survival or overall survival benefit for the treatment of patients with HER2-positive metastatic breast cancer after progression on T-DM1.8, 9, 10

About HER2CLIMB

HER2CLIMB is a multinational randomized (2:1), double-blind, placebo-controlled, active comparator, pivotal clinical trial comparing tucatinib in combination with trastuzumab and capecitabine compared with trastuzumab and capecitabine alone in patients with locally advanced unresectable or metastatic HER2-positive breast cancer who were previously treated with trastuzumab, pertuzumab and T-DM1. The primary endpoint of the trial was PFS per Response Evaluation Criteria in Solid Tumors (RECIST) v1.1 as determined by blinded independent central review (BICR) in the first 480 patients enrolled in the trial. HER2CLIMB enrolled a total of 612 patients to support the analyses of key secondary endpoints, including overall survival, PFS per BICR in patients with brain metastases at baseline and confirmed objective response rate. Safety data were evaluated throughout the study.

About Tucatinib

Tucatinib is an investigational, orally bioavailable, potent tyrosine kinase inhibitor that is highly selective for HER2 without significant inhibition of EGFR. Inhibition of EGFR has been associated with significant toxicities, including skin rash and diarrhea. Tucatinib has shown activity as a single agent and in combination with both chemotherapy and other HER2 targeted agents such as trastuzumab.1,2 Studies of tucatinib in these combinations have shown activity both systemically and in brain metastases. HER2 is a growth factor receptor that is overexpressed in multiple cancers, including breast, colorectal and gastric cancers. HER2 mediates cell growth, differentiation and survival. Tucatinib has been granted orphan drug designation by the FDA for the treatment of breast cancer patients with brain metastases.

In addition to HER2CLIMB, tucatinib is being evaluated in a randomized, double-blind, placebo-controlled, multi-center phase 3 trial of tucatinib in combination with T-DM1 compared to T-DM1 alone, in patients with unresectable locally advanced or metastatic HER2-positive breast cancer, including those with brain metastases, who have had prior treatment with a taxane and trastuzumab. The primary endpoint is progression-free survival per RECIST criteria. Secondary endpoints include overall survival, objective response rate and duration of response. The trial is being conducted in North America and is expected to enroll approximately 460 patients. More information about the phase 3 trial, including enrolling centers, is available at http://www.clinicaltrials.gov.

Tucatinib is also being evaluated in a multi-center, open-label, single-arm phase 2 clinical trial known as MOUNTAINEER, which is evaluating tucatinib in combination with trastuzumab in patients with HER2-positive, RAS wildtype metastatic or unresectable colorectal cancer. The primary endpoint of the trial is objective response rate by RECIST criteria. Progression-free survival, duration of response, overall survival and safety and tolerability of the combination regimen are secondary objectives. Results for 26 patients were evaluated in an analysis and presented at the European Society for Medical Oncology (ESMO) 2019 Congress. Enrollment is ongoing. More information about the MOUNTAINEER trial, including enrolling centers, is available at http://www.clinicaltrials.gov.

About Seattle Genetics

Seattle Genetics, Inc. is an emerging multi-product, global biotechnology company that develops and commercializes transformative therapies targeting cancer to make a meaningful difference in peoples lives. ADCETRIS (brentuximab vedotin) utilizes the companys industry-leading antibody-drug conjugate (ADC) technology and is currently approved for the treatment of multiple CD30-expressing lymphomas. Beyond ADCETRIS, the company has a late-stage pipeline including enfortumab vedotin for metastatic urothelial cancer, currently being reviewed for approval by the FDA, and tisotumab vedotin in clinical trials for metastatic cervical cancer, which utilize our proprietary ADC technology. In addition, tucatinib, a small molecule tyrosine kinase inhibitor, is in late-stage development for HER2-positive metastatic breast cancer and in clinical development for metastatic colorectal cancer. We are also leveraging our expertise in empowered antibodies to build a portfolio of proprietary immuno-oncology agents in clinical trials targeting hematologic malignancies and solid tumors. The company is headquartered in Bothell, Washington, and has a European office in Switzerland. For more information on our robust pipeline, visit http://www.seattlegenetics.com and follow @SeattleGenetics on Twitter.

Forward Looking Statements

Certain of the statements made in this press release are forward looking, such as those, among others, relating to the therapeutic potential of tucatinib, including its possible efficacy, safety and therapeutic uses; anticipated development activities including ongoing and future clinical trials; and intended regulatory actions, including the plan to submit an NDA to the FDA and a MAA to the EMA by the first quarter of 2020. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the difficulty and uncertainty of pharmaceutical product development, the risk of adverse events or safety signals, the possibility of disappointing results in ongoing or future clinical trials despite earlier promising clinical results, the possibility of delays in the submission of an NDA to the FDA and a MAA to the EMA, the possibility that data from the HER2CLIMB trial may not be sufficient to support approval of tucatinib and the possibility of adverse regulatory action. More information about the risks and uncertainties faced by Seattle Genetics is contained under the caption Risk Factors included in the companys Quarterly Report on Form 10-Q for the quarter ended September 30, 2019 filed with the Securities and Exchange Commission. Seattle Genetics disclaims any intention or obligation to update or revise any forward-looking statements, whether as a result of new information, future events or otherwise, except as required by law.

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Seattle Genetics Announces Positive Tucatinib HER2CLIMB Trial Results in Locally Advanced or Metastatic HER2-Positive Breast Cancer Presented at 2019...

An important question in medication asks how individual changes in DNA can predict variation in disease and health. New research from the Clemson Center for Human Genetics identified several metabolites that may function intermediates to translate variation within the genome to variation in advanced traits. Published lately in Genome Research, the findings may, in the future, help doctors better monitor metabolite variation as an indicator of disease.

The central dogma of molecular biology shows how DNA is transcribed into RNA, which is translated into proteins. Many of those proteins operate as enzymes that catalyze chemical reactions between small molecules that perform the applications laid out in our DNA, often known as metabolites. These metabolites, collectively known as the metabolome, carry out important functions, from producing or storing energy to serving as building blocks for our cells.

On this groundbreaking examine led by Mackays former postdoctoral researchers Shanshan Zhou and Fabio Morgante, researchers sought to measure hundreds of metabolites discovered throughout the experimental model system of the common fruit fly, Drosophila melanogaster, to gauge how these metabolites fluctuated alongside variation in genetic information.

As soon as the metabolites had been recognized, the remainder of the examine was carried out computationally, correlating variation in metabolites with DNA variants and variation in a variety of traits measured in 40 totally different fruit fly lines.

However, this comprehensive research fills in gaps of missing information that create extra avenues for research in the future. Because the technology to measure the metabolome improves, databases containing metabolomic information will expand.

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New Research Identified Hundreds of Metabolites and Small Molecules That Are Potential Indicators for The Disease - The News Kahn