12345...102030...


Dogged genetics research identifies genes associated with skin disorder – Clemson Newsstand

CLEMSON With patches of exposed skin, large lesions across her face and dull, expressionless eyes, you might think Lorelei, a Shetland sheepdog, has been abused. But that would be far from the truth: Lorelei is loved and well cared-for. She suffers from a painful condition called dermatomyositis, a genetic skin disorder that affects dogs and humans.

Lorelei, a Shetland sheepdog living in France, became the poster dog for dermatomyositis. The disease caused painful lesions on her face, feet, ears and tail when she was a puppy, as seen in this photo.

The discovery, by Leigh Anne Clark, an associate professor of genetics at Clemson University, and her colleagues, could improve the future for dogs with dermatomyositis. The findings could also give scientists clues into the genetic variations of the 10 in 1 million people who have the disease.

The results from our study can be used as a tool for dog breeders to prevent the disease from affecting puppies, while preserving desirable traits and genetic variation within the breed. Using this new resource, even a dog with dermatomysitis can produce healthy puppies with a mate having a compatible genotype, said Clark.

Before their latest study, Clark and her colleagues were aware of several factors that indicated the disease is multifactorial, deriving from a combination of genetic and environmental effects.

Clark is developing a genetic test for breeders that will tell them the risk of a dame and a sire having puppies with dermatomyositis.

In dogs, dermatomyositis is seen almost exclusively in collie and Shetland breeds. A hereditary disorder will only affect certain breeds, whereas a non-genetic disorder should affect all dog breeds at the same frequency, so Clark knew the disease had a genetic basis.

Her team also recognized that the condition is a complex disorder involving several genetic components as opposed to a simple dominant or recessive disorder because of a wide range of characteristics, or phenotypes, that appear in affected dogs. And they knew that dermatomyositis involved genetic changes in the major histocompatibility complex, which functions in immune defense.

Clark also suspected that an environmental component often triggers onset of the disease because many dog owners reported the animals were under stress when the disease first appeared.

The team used genetic analyses from more than 160 dogs around the world, including Lorelei, who lives in France. Then they conducted a genome-wide association study, or GWAS, to compare genetic variants present in dogs that are affected and unaffected to determine which genetic changes are exclusive to affected dogs. GWAS allowed them to identify an association between a genetic variant and the disease phenotype.

The results displayed a very strong correlation between the dermatomyositis phenotype and variants on chromosomes 10 and 31, suggesting that risk variants for dermatomyositis were located on those chromosomes.

I remember when we saw [the results]. We were speechless. We started looking at the genotypes and writing them down, and it was exciting, said Clark.

Due to the complexity of dermatomyositis, Clark suspects that the genetic variants are working in conjunction to produce the disease. This is known as an additive effect, wherein multiple genetic influences combine to produce the disease phenotype.

Human juvenile dermatomyositis and canine dermatomyositis display similar symptoms and clinical expressions; they are both vasculopathies, affecting connective tissues. Clark hopes her research can be applied to identify risk alleles in humans.

Although this study is a breakthrough in understanding the genetic basis of dermatomyositis, Clark believes there is a lot more to learn about the disease. Future research will focus on dogs with moderate-risk genotypes, specifically asking why some moderate-risk dogs express the disease and others do not. Clark and her team also have a grant with the Collie Health Foundation to investigate moderate risk genotypes.

When Clark was growing up in Texas she worked for a Shetland breeder, an experience that fueled her love of dogs, taught her about breeding techniques and introduced her to genetics. She began researching dermatomyositis in 2004 as a postdoctoral fellow at Texas A&M University, but the work hit a dead end. Clark returned to the project several years later at Clemson, following the invention of new genetic techniques. She received funding to investigate the genetic basis of dermatomyositis in 2010.

Clarks work will help breeders accurately identify which dogs to pair for breeding. By understanding the genetic risks, breeders can selectively mate the dogs to reduce the disease in the population.

Eventually, Clark thinks the disease could be bred out of dogs, leaving collies and Shetlands like Lorelei to be models for good behavior and beauty, and not for a genetic disorder.

END

Continued here:

Dogged genetics research identifies genes associated with skin disorder – Clemson Newsstand

3 Things You Probably Didn’t Know About Humans’ Ancient Relationship with Dogs – AlterNet


AlterNet
3 Things You Probably Didn't Know About Humans' Ancient Relationship with Dogs
AlterNet
Dogs like to stay closer to humans and gaze at us longer than wolves do, a new study of canine genetics at Princeton University observed. And, the likelihood of an animal doing this correlates with that animal's given DNA. As an article in the LA Times

Read the original here:

3 Things You Probably Didn’t Know About Humans’ Ancient Relationship with Dogs – AlterNet

Dogs are genetically predisposed to be the man’s best friend – Pulse Headlines

Scientists have found out why dogs are genetically predisposed to be the mans best friend. Three genes in dogs made themfriendly and socially inhibited, which makes them behave differently towards people than wolves do.

Dogs are terribly obsessed with being close to people. They are basically incredibly social wolves, thanks to these genes. However, according to scientists, the genes thatmake dogs super social can also be present in humans who have the Williams-Beuren syndrome. This study was published on July 19 in the journal Science Advances.

Everyone wants to find the genes that make dogs different from wolves, and try to understand how domestication changed the genome, said Bridgett von Holdt, who studies canine genetics at Princeton University.

Scientists from the Princeton University and Oregon State University wanted to find out what makes dogs and wolves behave that different. They chose 18 dogs and 10 gray wolves to make some behavioral tests, which included sociability and problem-solving exercises. They found out that dogs have a structural variation in 3 of the genes on chromosome 6 that could explain why dogs are so social and so fond of human beings. These three genes are called GTF2I, GTF2IRD1, and WBSCR17. According to lead authors, similar social behaviors can be seen in mice.

VonHoldt said that dogs tend to look more at humans than wolves do. As well, dogs are less independent in problem-solving tests when theyre around humans. When they are close to a person, their affinity remains for the rest of their lives. It might be what scientists call the domestication syndrome, which they have noticed in other animals. However, what astonishes scientists is how the genetic change occurs.

Many dogs maintain their puppy-like enthusiasm for social interactions throughout their life, whereas wolves grow out of this behavior and engage in more mature, abbreviated greetings as they age, said Monique Udell, who studies animal behavior at Oregon State University and co-authored the new study. One might think of how a young child greets you versus a teenager or adult relative.

During the behavioral tests, dogs had to open a puzzle box that had a hidden sausage inside. Only 2 out of 18 dogs opened the box regardless of the presence of a human. Wolves did a better job. Eight of 10 wolves completed this task successfully when a human was there with them, and nine opened when they were alone.

On the other hand, when dogs were with a person, they spent more time looking at the person than looking at the puzzle box; but wolves didnt mind about the person, they spent 100 percent of the time watching the box, forgetting that the human was there with them. Udell says that it was what they expected because dogs are distracted by social stimulation.

Another test consisted of evaluating how much time the animals spent within 1 meter from a person. This experiment was carried out in 4 phases. In the first, astranger sat on a chair making no eye contact with the creatures. In the second one, the same stranger actively engaged with the canine. The third and the four rounds were almost the same as the two first; the difference was that the person who sat was the animals owner or caretaker, instead of a complete stranger.

According to the results, dogs and wolves prefer to be close to people they know. Dogs spent a median of 93 percent of their time near people while wolves spent only 3 percent of theirs. With the strangers, dogs spent 53 of the time close to them while wolves spent 28 percent. This difference is not that dramatic.

Scientists also explain that dogs and humans could have similar genes. The same chromosomal mutation that makes a dog be so friendly and hyper social is linked to a rare disorder in humans, the Williams-Beuren Syndrome, or WBS. One of the symptoms of this condition is that people lack social inhibition making them terribly outgoing and trusting.

People with the Williams-Beuren Syndrome are also very social, and they tend to bond quickly with other people no matter if they are complete strangers. However, other symptoms include difficulty to learn and cardiovascular problems.

In fact, von Holdt started knowing this similarity between dogs and humans. On 2010, von Holdt had explained the entire genome of 225 gray wolves and 912 dogs from 85 breeds. There were clear differences between the genes of dogs and wolves, especially when it came to the WBS gene, WBSCR17. However, she wasnt entirely clear about how affected the behavior of dogs.

Three years ago, she began working with Udell who had developed behavioral data of dogs. Then, putting together elements of both research they were able to find the missing link.

Source: Los Angeles Times

Here is the original post:

Dogs are genetically predisposed to be the man’s best friend – Pulse Headlines

New research proves Greeks colonised Sicily and Southern Italy – Neos Kosmos

Ancient Greek DNA from Euboea and Corinth still present in populations in the region

Paestum, Salerno, Italy, Temple Of Athena, Magna Grecia.

No one questions the colonisation of Magna Graecia by the Greeks, the name given to the coastal areas of Southern Italy and Sicily, is proof of that. It was in the 8th century BC that Ancient Greeks came decided to settle in the fertile lands of Magna Graecia, according to artefact and other archaeological finds. New DNA research published in the European Journal of Human Genetics, has just confirmed there is a strong biological influence apart from the cultural. Scenarios ranging from a colonization process based on small groups of males moderately admixing with autochthonous [indigenous] groups… to substantial migrations from Greece and a Hellenic origin for a significant part of the pre-Roman Italian population, explains Lead author Sergio Tofanelli. Tofanelli and his colleagues find fault with previous DNA analyses of Greek colonisation primarily which were using specific lineages of haplotypes as markers, however, contemporary genomes in many cases do not accurately reflect the DND makeup of ancient populations. Using both mitochondrial DNA and Y chromosome analysis, the study simulates genetic change over time sequencing the DNA of more than 800 people native to the areas of Euboea and Corinth, where the first wave of Magna Grecia colonisers came from, along with people whose families were native to Sicily and southern Italy.

By modelling the typical mutation rate they recovered a strong signature of Greek DNA between the 8th and 5th centuries BC. “Despite the multiple alternative explanations for historical gene flow,” they write, “it is relevant to stress here that a signature specifically related to the Euboea island in East. Sicily was consistently found at different levels of analysis-proving that it was most likely colonised first, in line with the historical and archaeological evidence, attesting to an extended and numerically important Greek presence in this region.” Tofanellis finds point that “the migration and settlement process was driven by males. This is one of the few cases of sex-biased gene flow skewed towards an increased male instead of female contribution,” the authors conclude. Part of the reason could be due to patrilocality as the norm for men was to stay in their birthplace while women could be offered to spouses in neighbouring kingdoms. This study is the first to use a full set of haplotypes and therefore provides better coverage of possible DNA links than previous studies.

See the rest here:

New research proves Greeks colonised Sicily and Southern Italy – Neos Kosmos

Dog owners can now give pets a DNA test to see if their pooch overeats – Mirror.co.uk

Pet owners are getting their furry friends DNA tested to discover if they have a deadly disease, what their ancestral background is and even discover if they have a GREEDY gene.

Costing about 40 for a postal test, where you swab your pets cheek with a little brush, dogs are the domestic animals most commonly screened but it is also possible to get your cats DNA examined.

The Animal Health Trust (AHT), a charity which fights disease and injury in animals, offers over 30 DNA tests, reinvesting profits for further research.

Cathryn Mellersh, head of canine genetics at the organisation, explained: Our focus is on health and preventing disease. For dog breeders, having their animals DNA tested, which you only need to do once in their lifetime, is responsible because it means they can make sensible breeding decisions.

Vets use the DNA test to help diagnose what the dog has wrong with it, so they might find out a dog has two copies of the mutation that causes a particular eye disease.

For owners, it can be useful to know that the dog is going to develop a disease. If my dog has the inherited glaucoma gene its better to have regular eye tests so the early signs can be spotted.

Cathryn says DNA testing is continually developing and the AHTs brand new test shows a glimpse of the future for dog owners.

Our most recent DNA test is for a mutation that has been shown to make a dog more interested in food, more greedy and more likely to become obese, she says. Think labradors and flat-coated retrievers.

Were aiming that test really at the dog owner and in particular the puppy buyer. If you know your puppy has two copies of that mutation, on average they are about 4kg heavier than dogs without the mutation.

You can be aware throughout that dogs life they are likely to be extra greedy, so you can keep an eye on its treats and make sure it gets lots of extra exercise.

Pet DNA testing can also be undertaken for more lighthearted reasons.

If youve got a dog from a rescue centre that looks a bit like a Labrador you can have its DNA tested for about 50 or 60, Cathryn explains. They will estimate for you what its breed make-up is.

I have a crossbreed and they were able to tell me one parent was probably a German Shepherd and the other parent was a Greyhound crossed with a Saluki. But it depends how much of a Heinz 57 your dog is, that will determine how much information they can give you.

A new company in the States, Embark, will tell you where the dogs ancestors came from. Certain breeds were developed in Asia, some Africa. DNA has quite distinct signatures.

Developments in DNA testing for pets can even help to advance human genetic research.

Sometimes the research that we do points us to genes that may be responsible for the same disease in humans, explains Cathryn.

A couple of years ago we found a mutation that caused a neurological disease in Parson Russell Terriers and Jack Russell Terriers.

Since we published our findings people working on humans have found mutations in the same gene cause the same disease in humans.

Continue reading here:

Dog owners can now give pets a DNA test to see if their pooch overeats – Mirror.co.uk

This is how humans have evolved to fight the bugs that make us ill – Eyewitness News

Its the ability of our immune system to remember past infections and pass this memory on to our kids, that allows us to survive infectious diseases.

Picture: Freeimages.com

Its easy to feel our survival is under threat from new and emerging infectious diseases that are going to wipe out the human race, or at least end our current way of life. The recent outbreaks of Ebola in West Africa re-ignited our interest in pandemics and reminded us of our potential frailty in the face of an overwhelming enemy.

With so many microbes capable of hijacking and destroying us, how are we as a species still enduring?

Humans are unique in the world. We are avid collectors of infectious diseases acquired from our environment throughout our evolution.

We all just want to survive and procreate

We share with our invaders a need to survive and propagate our genes. Infectious pathogens, such as bacteria and viruses, are parasitic they have to find and infect a susceptible host in order to maintain themselves and propagate. Therefore, its not really in their best interests to kill us. Our relationship with pathogens is shaped by our capacity to evolve genetically, to modify our behaviour, or to force the pathogens to evolve so that we all survive.

Viruses such as influenza replicate and spread to new hosts before the original host gets sick (with influenza symptoms such as a sore throat and sneezing), meaning the parasite can survive and thrive in new hosts.

On rare occasions, the death of the host is necessary for the pathogen to reproduce. One example is trichinellosis (also known as trichinosis), which is caused by eating undercooked or raw meat from animals (usually carnivores and omnivores) infected with a worm (nematode).

To survive in the host, the worm constructs a capsule around itself to avoid the immune system. The immature worms in the meat cause muscle weakness and paralysis, and eventually death, in the host. This means the victim is defenceless to predators that may come and gobble it up, thus giving the worm a new host to infect.

This is an old disease that we tackle either by avoiding eating meat (possibly the reason some religions avoid eating pork) or through cultural adaptation such as overcooking.

How weve adapted to win the fight

Evolutionary pressures through Darwinian selection, survival of the fittest, constantly shape life on Earth. This innate ability to adapt has enabled humans to develop defence mechanisms to counter some of the most devastating pathogens.

Malaria is a parasite of red blood cells that is estimated to have caused 429,000 deaths in 2015. When malaria became a human disease (it is thought to originate in primates) is unclear. One thing that is clear is that it emerged long enough ago for humans to evolve innate defences.

Sickle cell mutation is a potentially fatal blood disorder seen mainly in Africa. This mutation in a haemoglobin gene (responsible for red pigment in blood cells) is one of a number of genetic traits that actually protect against malaria. People who have this genetic mutation are protected against malaria and thus likely to reproduce and pass on their evolutionary advantage.

A second genetic mutation that protects humans against malaria affects an essential enzyme for red blood cell function. But individuals with this mutation may also develop life-threatening anaemia (deficiency in the number or quality of red blood cells) due to the destruction of red blood cells as a side effect of treatment with some modern anti-malarial drugs.

Perhaps the most significant and wondrous part of the evolutionary machinery that enables the human race to keep one step ahead of the pathogens is the major histocompatibility complex (MHC). The MHC proteins on the surface of our white blood cells evolved along with the vertebrates (animals with a spine), which makes them our oldest defence mechanism.

We have different types of white cells: mobile ones in the blood (lymphocytes) and resident ones in lymph nodes (macrophages). When there is an infection the macrophages gobble up the bugs and present proteins from the organism on their surface like signals.

The lymphocytes containing MHC molecules that recognise this protein bind on. (Our immune system has memory cells that are produced after vaccination or past infections so we can remember how to fight them next time.) The lymphocytes then produce chemicals that recruit more lymphocytes to help. These multiply and you end up with a swollen gland.

Our bodys ability to remember past infections is one of the reasons the entire population of London didnt perish during the Black Death. MHC molecules are passed on to our offspring, which explains why we have such a wide variety of these molecules. When a disease enters a population for the first time it always more lethal than subsequent introductions because some people are now immune, and people have been born to the survivors.

Not all pathogens make us stronger

Not all co-evolution leads to changes in human genetics, especially if there is no impact on our ability to procreate. Human tuberculosis is a chronic disease that continues to plague the world with little evidence that humans have developed any ability to resist infection. This is interesting because it is likely to have co-evolved with us from Neolithic times.

We will continue to face new and emerging diseases. So far, our capacity to adapt and respond has served us well. But some scientists believe humans are no longer evolving due to the removal of many selection pressures, most important things that cause premature death.

The question is whether we are up to the challenges posed by what comes next. Perhaps the most pressing issue facing us now is that bugs seem to be evolving faster than we can create things to kill them known as antimicrobial resistance.

The spectre of life without antibiotics is terrifying given we never did overcome bacterial infections through evolution. Instead, we used our ingenuity. Our future will reflect how well we exercise our collective intellect and will to dodge this bullet.

Written by Simon Reid, Associate Professor, Communicable Disease Control, The University of Queensland.

This article was republished courtesy of the World Economic Forum.

Read the original here:

This is how humans have evolved to fight the bugs that make us ill – Eyewitness News

NanoVelcro Microchips Can Capture Fetal Cells from Maternal Blood for Prenatal Genetic Testing – 360Dx (subscription)

NEW YORK (GenomeWeb) Scientists at the University of California, Los Angeles and their collaborators are working toward a clinical noninvasive prenatal genetic test that relies on fetal cells isolated from the mother’s blood or cervix.

A trial upgrade to 360Dx Premium gives you full site access, interest-based email alerts, access to archives, and more. Never miss another important industry story.

Try 360Dx Premium now.

Already a 360Dx Premium member? Login Now. Or, See if your institution qualifies for premium access.

*Before your trial expires, well put together a custom quote with your long-term premium options.

Link:

NanoVelcro Microchips Can Capture Fetal Cells from Maternal Blood for Prenatal Genetic Testing – 360Dx (subscription)

What makes dogs so friendly? Study finds genetic link to super-outgoing people – Science Magazine

By Elizabeth PennisiJul. 19, 2017 , 2:00 PM

Its one of the biggest perks of being a dog owner: Your pooch is thrilled when you come home, wagging itstail, wiggling itsbody, and licking you with itstongue. Now, scientists say they have pinned down the genetic basis of this affection. Using clues from humans with a genetic disorder that makes them unusually friendly, the team found variations in several genes that make dogs more affable than wolves and some dogs friendlier than others.

The study shows that the genetics of dog behavior might be even more relevant for understanding genetics of human behavior than we once thought, says Per Jensen, a behavioral geneticist from Linkping University in Sweden who was not involved with the research.

Over the past decade, geneticists have discovered the DNA involved in key dog traits, such as size and coat variation. Some DNA seems linked to personality, and one study showed that dogs and humans enforce their bonds by gazing at each other. But few studies have pinned particular behaviors to specific genes. Theres been a remarkable explosion of studies, with the exception of behavioral studies, says Robert Wayne, an evolutionary biologist at the University of California, Los Angeles, who was not involved with the work.

Seven years ago, Monique Udell, an animal behaviorist at Oregon State University in Corvallis,and Princeton University geneticist Bridgett vonHoldt joined forces to link genes to a behavioral trait they think was pivotal to dog domestication: hypersociability. Researchers already know that dogs are hypersocial compared withwolves, and the team confirmed this by comparing the behavior of 18 dogssome purebreds, others mixed breedswith10 captive, hand-raised wolves at a research and education institute in Indiana. As others had shown, the dogs were much friendlier than the wolves, even though the wolves had been raised by people. Both hand-raised wolves and dogs greet human visitors, but dogs continue to interact with people much longer than wolves do, even when visited by a stranger.

The researchers then turned to humans with Williams-Beuren syndrome, a developmental disorder that leads to mental disability and an elfin appearance, but also often makes a person very trusting and friendly. The syndrome results from the loss of part of chromosome 7. VonHoldt focused on this stretch of DNA because she previously had found that this region, which is on dog chromosome 6, seemed to havebeen important in canine evolution. It was a long shot, says Wayne, but VonHoldt decided to see whetherthis DNA was responsible for dogs friendliness.

The DNA varied widely in both dogs, and to a lesser degree, wolves, with parts inserted, deleted, or duplicated. Almost every dog and wolf we sequenced had a different change, VonHoldt says. People with Williams-Beuren also show great variation in this region, and the variation is thought to affect the severity of the disease and peoples personalities.

The same seems true in the wolves and dogs. Hypersocial dogs had more DNA disruptions than the more aloof wolves, the team reports today in Science Advances. Disruption on a gene for a protein called GIF21, which regulates the activity of other genes, was associated with the most social dogs. A relative lack of changes in that gene seems to lead to aloof, wolflike behavior, VonHoldt says. Changes in that gene in mice cause that species to be hypersocial as well. Two other genes also were linked to sociality in dogs.

Were almost describing variation in personality, in the animals, VonHoldt explains. She and Ubell did not study enough purebred dogs to draw any conclusions about how these variations might influence breed personalities, however.

The study is exciting because it provides such strong support for the survival of the friendliest hypothesis of dog domestication, says Brian Hare, an evolutionary anthropologist at Duke University in Durham, North Carolina, who was not involved in the work. In ancient wolves with these gene disruptions fear was replaced by friendliness and a new social partner [was] created.

In a sense, this is the first paper discovering the genes related to the high sociability of dogs, says Takefumi Kikusui, an animal behaviorist at Azabu University in Sagamihara, Japan, also not involved with the work. Humans too have high sociability relative to other primates. Probably, these two species, namely human and dogs, use the same genes for these social behaviors.

However, some experts think the study needs to be expanded to more dogs and wolves to be sure of the conclusions. With so few individuals the associations are at most suggestive at this point, Jensen says. Kikusui suggests they look for this gene-behavior connection in other populations of dogs and more individuals.

See more here:

What makes dogs so friendly? Study finds genetic link to super-outgoing people – Science Magazine

Doggie DNA testing startup gets fresh funds – WDAY

Startup Embark Veterinary allows pet owners, vets and breeders to learn about the ancestry and disease risk of dogs. Similar to human genetics tests, it’s conducted through a cheek swab of saliva.

The company announced on Tuesday it raised another $4.5 million from investors, which include Anne Wojcicki, founder of a genetics testing startup for humans called 23andMe. It previously raised $2 million.

The goal is to give pet owners a better understanding of their dog’s health for preventive care, and provide insights to breeders. For example, tests can detect which dogs might be carriers for specific diseases, so breeders can avoid mating them with another carrier. It can also provide details about a dog’s family tree, which may be especially revealing for rescue dogs.

Embark Veterinary said it’s able to track over 200,000 genetic markers and recognize 175 breeds with its test. It also deliver a breakdown of chromosomes to see which traits come from certain breed types. Results take three to four weeks before they are delivered online.

Each test costs $199. In comparison, a human genome test from 23andMe runs $149.

While the price may seem high for a pet test, owners spent $66.75 billion on their pets in 2016, according to American Pet Products. Venture capitalists are increasingly financing startups looking to capture a portion of the market. Investors have poured $486 million into pet tech startups between 2012 and 2016.

While there are some existing pet genetic tests — like Wisdom Panel, which determines a dog’s ancestry — Embark Veterinary cofounder Adam Boyko said his company delivers a more comprehensive picture of a dog’s overall health. (Wisdom Panel’s genetic test tracks 321 markers across 250 breeds.)

“We want doggie DNA testing to be not something you just do for fun, but we want to use it to push the whole field forward,” said Adam Boyko, adding the firm also delivers raw data so it can be shared with vets or researchers. “There’s a research utility for discovering new genetic associations and advancing the field of canine genetics.”

Adam — an assistant professor at Cornell University College of Veterinary Medicine, the startup’s partner — started the company with his brother, Ryan, in 2015. Since then, it’s conducted “thousands” of dog tests.

The startup says it will not share customer or dog information without permission, but unless users opt out, it will share anonymous findings with scientists for research.

“This new funding lets us expand our research to end preventable disease in dogs — and expand partnership talks with companies that can help us translate that research into advances for human health,” said Ryan Boyko.

Read the original:

Doggie DNA testing startup gets fresh funds – WDAY

NanoVelcro Microchips Can Capture Fetal Cells from Maternal Blood for Prenatal Genetic Testing – GenomeWeb

NEW YORK (GenomeWeb) Scientists at the University of California, Los Angeles and their collaborators are working toward a clinical noninvasive prenatal genetic test that relies on fetal cells isolated from the mother’s blood or cervix.

A trial upgrade to GenomeWeb Premium gives you full site access, interest-based email alerts, access to archives, and more. Never miss another important industry story.

Try GenomeWeb Premium now.

Already a GenomeWeb Premium member? Login Now. Or, See if your institution qualifies for premium access.

*Before your trial expires, well put together a custom quote with your long-term premium options.

Read the rest here:

NanoVelcro Microchips Can Capture Fetal Cells from Maternal Blood for Prenatal Genetic Testing – GenomeWeb

Genetic sequencing unravels rare disease mysteries – UCLA Newsroom

When Audrey Lapidus 10-month old son, Calvin, didnt reach normal milestones like rolling over or crawling, she knew something was wrong.

He was certainly different from our first child, said Lapidus, of Los Angeles. He had a lot of gastrointestinal issues and we were taking him to the doctor quite a bit.

Four specialists saw Calvin and batteries of tests proved inconclusive. Still, Lapidus persisted.

I was pushing for even more testing, and our geneticist at UCLA said, If you can wait one more month, were going to be launching a brand new test called exome sequencing, she said. We were lucky to be in the right place at the right time and get the information we did.

In 2012, Calvin Lapidus became the first patient to undergo exome sequencing at UCLA. He was subsequently diagnosed with a rare genetic condition known as Pitt-Hopkins syndrome, which is most commonly characterized by developmental delays, possible breathing problems, seizures and gastrointestinal problems.

Though there is no cure for Pitt-Hopkins, finally having a diagnosis allowed Calvin to begin therapy. The diagnosis gave us a point to move forward from, rather than just existing in that scary no-mans land where we knew nothing, Lapidus said.

Unfortunately, there are a lot of people living in that no-mans land, desperate for any type of answers to their medical conditions, saidDr. Stanley Nelson, professor of human genetics and pathology and laboratory medicine atthe David Geffen School of Medicine at UCLA. Many families suffer for years without so much as a name for their condition.

What exome sequencing allows doctors to do is to analyze more than 20,000 genes at once, with one simple blood test.

In the past, genetic testing was done one gene at a time, which is time-consuming and expensive.

Rather than testing one sequential gene after another, exome sequencing saves time, money and effort, saidDr. Julian Martinez-Agosto, a pediatrician and researcher at theResnick Neuropsychiatric Hospital at UCLA.

The exome consists of all the genomes exons, which are the coding portion of genes. Clinical exome sequencing is a test for identifying disease-causing DNA variants within the 1 percent of the genome which codes for proteins, the exons, or flanks the regions which code for proteins.

To date, mutations in the protein-coding parts of genes accounts for nearly 85 percent of all mutations known to cause genetic diseases, so surveying just this portion of the genome is an efficient and powerful diagnostic tool. Exome sequencing can help detect rare disorders like spinocerebellar ataxia, which progressively diminishes a persons movements, and suggest the likelihood of more common conditions like autism spectrum disorder and epilepsy.

More than 4,000 adults and children have undergone exome testing at UCLA since 2012. Of difficult to solve cases, more than 30 percent are solved through this process, which is a dramatic improvement over prior technologies.Thus, Nelson and his team support wider use of genome-sequencing techniques and better insurance coverage, which would further benefit patients and resolve diagnostically difficult cases at much younger ages.

Since her sons diagnosis, Lapidus helped found the Pitt-Hopkins Syndrome Research Foundation. Having Calvins diagnosis gave us a roadmap of where to start, where to go and whats realistic as far as therapies and treatments, she said. None of that would have been possible without that test.

Next, experts at UCLA are testing the relative merits of broader whole genome sequencing to analyze all6 billionbases that make up a persons genome.The team is exploring integration of this DNA sequencing with state-of-the-art RNA or gene expression analysis to improve the diagnostic rate.

The entire human genome was first sequenced in 1990 at a cost of $2.7 billion. Today, doctors can perform the same test at a tiny fraction of that cost, and believe that sequencing whole genomes of individuals could vastly improve disease diagnoses and medical care.

See the original post:

Genetic sequencing unravels rare disease mysteries – UCLA Newsroom

Only 10-25% of Human Genome is Functional, New Estimate Says – Sci-News.com

In a paper published in the journal Genome Biology and Evolution, University of Houston Professor Dan Graur says that the functional portion of the human genome probably falls between 10% and 15%, with an upper limit of 25%. These figures are very different from one (about 80%) given in 2012 by the Encyclopedia of DNA Elements (ENCODE) project, but more optimistic than the 2014 estimate (8.2%) by Rands et al.

According to Professor Graur, the functional fraction within the human genome cannot exceed 25%, and is probably considerably lower.

Professor Graur took a deceptively simple approach to determining how much of the genome is functional, using the deleterious mutation rate that is, the rate at which harmful mutations occur and the replacement fertility rate.

Both genome size and the rate of deleterious mutations in functional parts of the genome have previously been determined, and historical data documents human population levels.

With that information, the researcher developed a model to calculate the decrease in reproductive success induced by harmful mutations, known as the mutational load, in relation to the portion of the genome that is functional.

The functional portion of the genome is described as that which has a selected-effect function, that is, a function that arose through and is maintained by natural selection.

Protein-coding genes, RNA-specifying genes and DNA receptors are examples of selected-effect functions.

In Professor Graurs model, only functional portions of the genome can be damaged by deleterious mutations; mutations in nonfunctional portions are neutral since functionless parts can be neither damaged nor improved.

Because of deleterious mutations, each couple in each generation must produce slightly more children than two to maintain a constant population size.

Over the past 200,000 years, replacement-level fertility rates have ranged from 2.1 to 3 children per couple; global population remained remarkably stable until the beginning of the 19th century, when decreased mortality in newborns resulted in fertility rates exceeding replacement levels, Professor Graur said.

If 80% of the genome were functional, unrealistically high birth rates would be required to sustain the population even if the deleterious mutation rate were at the low end of estimates.

For 80% of the human genome to be functional, each couple in the world would have to beget on average 15 children and all but two would have to die or fail to reproduce.

If we use the upper bound for the deleterious mutation rate (2108 mutations per nucleotide per generation), then the number of children that each couple would have to have to maintain a constant population size would exceed the number of stars in the visible Universe by ten orders of magnitude.

_____

Dan Graur. An upper limit on the functional fraction of the human genome. Genome Biol Evol, published online July 11, 2017; doi: 10.1093/gbe/evx121

Read more from the original source:

Only 10-25% of Human Genome is Functional, New Estimate Says – Sci-News.com

Doggie DNA testing startup gets fresh funds – CNNMoney

Startup Embark Veterinary allows pet owners, vets and breeders to learn about the ancestry and disease risk of dogs. Similar to human genetics tests, it’s conducted through a cheek swab of saliva.

The company announced on Tuesday it raised another $4.5 million from investors, which include Anne Wojcicki, founder of a genetics testing startup for humans called 23andMe. It previously raised $2 million.

The goal is to give pet owners a better understanding of their dog’s health for preventive care, and provide insights to breeders. For example, tests can detect which dogs might be carriers for specific diseases, so breeders can avoid mating them with another carrier. It can also provide details about a dog’s family tree, which may be especially revealing for rescue dogs.

Embark Veterinary said it’s able to track over 200,000 genetic markers and recognize 175 breeds with its test. It also deliver a breakdown of chromosomes to see which traits come from certain breed types. Results take three to four weeks before they are delivered online.

Each test costs $199. In comparison, a human genome test from 23andMe runs $149.

While the price may seem high for a pet test, owners spent $66.75 billion on their pets in 2016, according to American Pet Products. Venture capitalists are increasingly financing startups looking to capture a portion of the market. Investors have poured $486 million into pet tech startups between 2012 and 2016.

Related: New genetic test wants to help women get pregnant

While there are some existing pet genetic tests — like Wisdom Panel, which determines a dog’s ancestry — Embark Veterinary cofounder Adam Boyko said his company delivers a more comprehensive picture of a dog’s overall health. (Wisdom Panel’s genetic test tracks 321 markers across 250 breeds.)

“We want doggie DNA testing to be not something you just do for fun, but we want to use it to push the whole field forward,” said Adam Boyko, adding the firm also delivers raw data so it can be shared with vets or researchers. “There’s a research utility for discovering new genetic associations and advancing the field of canine genetics.”

Adam — an assistant professor at Cornell University College of Veterinary Medicine, the startup’s partner — started the company with his brother, Ryan, in 2015. Since then, it’s conducted “thousands” of dog tests.

The startup says it will not share customer or dog information without permission, but unless users opt out, it will share anonymous findings with scientists for research.

“This new funding lets us expand our research to end preventable disease in dogs — and expand partnership talks with companies that can help us translate that research into advances for human health,” said Ryan Boyko.

CNNMoney (New York) First published July 18, 2017: 3:20 PM ET

See the original post here:

Doggie DNA testing startup gets fresh funds – CNNMoney

Genetics of Hitchhiker’s Thumb – News-Medical.net

Hitchhiker’s thumb is otherwise known as distal hyperextensibility of the thumb. This is because of the genetic traits that make a person bend his thumb backward while stretching.

The distal joint plays an important role in keeping the thumb straight. When the distal joint hyperextends, it enables the thumb to bend backward, creating the hitchhiker’s thumb. Having a hitchhiker’s thumb is neither an advantage nor a disadvantage. This type of bending does not affect the functions of the thumb nor causes any pain to it.

In the human genetic pattern, there are a number of genes that determine the size, shape, and color of a person. The gene that controls the extendibility of the thumb is known as the “Bendy thumb gene.” The bendy thumb gene comprises of multiple alleles in the chromosomes. One allele from the bendy thumb gene can produce a straight thumb and another allele may produce a hitchhiker’s thumb. It all depends on what allele people receive from their parents.

Thumbs ranging from straight to hitchhiker. Image Credit: Myths of Human Genetics John H. McDonald, University of Delaware

The group of genes that is responsible for a trait is known as a genotype, with the characteristic of that particular trait called a phenotype. Hitchhiker’s thumb is not to be considered as a genetic condition or disorder, but is a result of the phenotype. Phenotype consists of traits that influence the appearance and behavior of a person. Traits are alleles that help in the formation of chromosomes and fall into two categories: dominant traits and recessive traits.

Let us assume S to be the dominant allele and s to be the recessive allele. If a person is born with the ss genotype, then they will have a hitchhiker’s thumb. A person born with the Ss genotype will have a straight thumb, but will also be a bearer of the hitchhiker’s thumb. A person born with an “SS” genotype will only have a straight thumb and no chances for having the condition of the hitchhiker.

Joint Hypermobility and Diastrophic Dysplasia are conditions associated with Hitchhiker’s thumb.

A person with hypermobility feels pain in the joints of his fingers, knees, and elbows. This condition is often found in young people and children. It is a common condition and hence does not require any treatment, unless the frequency of the pain in the joint is very high.

This condition includes abnormal spine curvature, short legs and arms, upward-turning foot, and unusually bending thumbs or the hitchhiker’s thumb.

Genetic disorders and defects are possible to occur at any stage during pregnancy. Most of the disorders tend to affect the baby before the third month (the time during which the formation of the organs occurs). Although hitchhikers is genetic, the parents are not always responsible for this defect in the child. If both the parents have straight thumbs, there is a lowered chance for the child to get affected by hitchhikers thumb.

If one parent has hitchhiker’s thumb while the other has a straight thumb, there are possibilities for the child to get either of the (straight or hitchhiker) thumb structures. In some cases, there are also chances for the child to be born with disorders, even though the mother and father are free of any genetic risks.

More here:

Genetics of Hitchhiker’s Thumb – News-Medical.net

Rare genetic diseases can arise from unsuspecting carriers – Genetic Literacy Project

When two peoplewith a rare form of deafnessmate, the genetic combination can yieldan unusual syndrome in which the child hasfragile bones, deafness, blindness and albinism. Therecently-discovered syndrome is known as COMMAD, for coloboma (ocular holes), osteopetrosis (note the suffix dense bones), microphtalmia (small eyes), macrocephaly (large head), albinism, and deafness.

This new discovery was made by Aman George and colleagues at the Ophthalmic Genetics and Visual Function Branch of theNational Eye Institute. Theydemonstrated that with a combinatorial effect of certain genotypes from both parents, this exceedingly rare set of occurrences in the child is one possible outcome. Of course, as with any mating event, there are many possible outcomes.

The disorder is an example of a raredisease passedon by parents who do notexhibit the condition. It occursthrough genetic combination and mathematical permutation (as autosomal recessive inheritance). Two children were identified with the COMMAD syndrome, and each has two different recessive mutations of the gene that codes for microphthalmia-associated transcription factor (MITF). The research report was published inthe American Journal of Human Genetics.

What had been previously known about MITF was limited, but that mice with two recessive mutations in the MITF gene had impairments in their osteoclasts (bone degradation cells), mast cells (a type of immune cell), retinal pigment, and melanocytes (pigment-producing cells of the skin). Beyond the mice research, human cases were unknown prior to this work and these two cases. In vitro cell experiments (within flasks) using zebrafish embryos showed that the abnormal MITF protein could not enter cell nuclei or bind DNA, and it impaired melanocyte migration, differentiation, and survivability which is a strong supportive causal factorfor the albinism seen in the two human cases. Similarly, the eye abnormalities also could occur because of the MITF mutations on the retinal pigment epithelium, causing ophthalmic disorder. This is due in large part because of the powerful role the retinal pigment epithelium (RPE) plays in eyehealth and maintenance.

The retinal pigment epithelium is a single layer of cells overlying the retina, just underneath the photoreceptive layer of cells. The RPE expresses certain proteins that regulate the transport of nutrients (to) and waste (away from) the retina. It also helps to continuously renew ocular precision by ingesting and degrading the worn out terminal ends of the photoreceptor outer pieces, keeping vision sharp.It also acts as a physical barrier to the retina against high-energy light as well as oxygen reactive species created from photodegradation of molecules. MITF mutations leading to RPE abnormalities can significantly compromise these structures required for proper function and homeostasis within the eye.

In order to mitigate future occurrences of this particular spectrum of rare diseases, the researchers advise genetic testing in particular cases with couples where Waardenburg syndrome type 2A (WS2A) or Tietz syndrome may be present (and/or if both parents have partial albinism and hearing loss, which could be an indicator), as well as genetic counseling about the risks to offspring if it is indeed a potential factor.Waardenburg syndrome type 2 is usually inherited in an autosomal dominant manner.This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause features of the condition.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novomutation.Whats interesting about COMMAD is that it is a disease associated with one gene, and it has a different mode of inheritance from both WS2A and Tietz syndrome, which are both autosomal dominant.Identifying the gene responsible for WS2 is necessary to determine the subtype that is present in a person or family.

The children in the particular cases inherited different recessive mutations from each parent, yet the parents have the same autosomal dominant condition, but didnt know it. The parents and children in the two cases each have Waardenburg syndrome type 2A, with very white complexions, blue eyes, premature graying, and profound sensorineural hearing loss. Some of the siblings of the two cases are fair and deaf like the parents.In some instances, an affected person inherits the mutated gene from an affected parent.

People with questions about genetic risks or genetic testing for themselves or family members should speak with a genetics counselor about their options. Typical steps in the process are:

Ben Locwin is a behavioral neuroscientist and astrophysicist with a masters in business, and a researcher on the genetics of human disease. Follow him on Twitter @BenLocwin.

See the original post:

Rare genetic diseases can arise from unsuspecting carriers – Genetic Literacy Project

Biotechnology timeline: Humans have manipulated genes since the ‘dawn of civilization’ – Genetic Literacy Project

Historically, biotech has been primarily associated with food, addressing such issues as malnutrition and famine.

Today, biotechnology is most often associated with the development of drugs. But drugs are hardly the future of biotech. Weve entered the Fourth Industrial Revolution, and genetics are on a new level. Biotech is paving a way for a future open to imagination, and thats kind of scary.

The next ten years will surely prove exciting as artificial intelligence and biotechnology merge man and machine

Most of the biotech developments before the year 1800 can be termed as discoveries or developments. If we study all these developments, we can conclude that these inventions were based on common observations about nature.

The Second World War became a major impediment in scientific discoveries. After the end of the second world war some, very crucial discoveries were reported, which paved the path for modern biotechnology.

The origins of biotechnology culminate with the birth of genetic engineering.There were two key events that have come to be seen as scientific breakthroughs beginning the era that would unite genetics with biotechnology:One was the 1953 discovery of the structure of DNA, by Watson and Crick, and the other was the 1973 discovery by Cohen and Boyer of a recombinant DNA technique by which a section of DNA was cut from the plasmid of an E. coli bacterium and transferred into the DNA of another. Popularly referred to as genetic engineering, it came to be defined as the basis of new biotechnology.

A version of this article was originally published on Brian Colwells website as A Giant-Sized History of Biotechnology and has been republished here with permission from theauthor.

Brian Colwell is a technology futuristwith an investment thesis focused on disruptions in this next Industrial revolution. His research areas includeagricultural,biotechnology and artificial intelligence. Follow @BrianDColwellon Twitterand at his website.

Originally posted here:

Biotechnology timeline: Humans have manipulated genes since the ‘dawn of civilization’ – Genetic Literacy Project

Chinese scientists who made muscly ‘super dog’ could create genetically-modified human CHILDREN next’ – The Sun

China’s Dr Frankensteins are ‘on a path to eugenics’ as they tinker with the genetic code of animals – and we could be next

CHINESE scientists who are cloning canines to create mutated superdogs are on the road to eugenics, a top genetics expert has warned.

The pups, like the one below, are being bred to become stronger and faster and could be used for security or policing.

Sino Gene

Experts at Sino Gene, a biotech company based in Beijing recently revealed afluffy beagle called Long Long to the world.

It is the first of his kind because it has been cloned from a genetically modified parent, they claimed.

The pup arrived in late May in a Sino Gene lab, exactly where her dad was born in December last year.

But despite its adorable appearance, a British genetics expert said he is very concerned about how the scientists are using genetics for non-medical purposes.

Scientists genetically modify animals in the UK to test medicines like cancer treatments on mice, rabbits or dogs.

David King, director of Human Genetics Alert (HGA), warned that this was the first step to creating mutant children.

Asia Wire

Its true that the more and more animals that are genetically engineered using these techniques bring us closer to the possibility of genetic engineering of humans.

Dogs as a species, in respect of cloning, are very difficult and even more difficult to clone human beings.

Theres no medical case for it, the scientists are interested in being the first person in the world to create a genetically-engineered child.

Theyre interested in science and the technology and their careers. They will continue pushing the regulations for it.

Asia Wire

Eyevine

That does set us on the road to eugenics. I am very concerned with what Im seeing, he told the Express.co.uk.

Lai Liangxue, a researcher at the Guangzhou Institute of biological medicine and health, told China Plusthat the birth of Long Long put China on the map.

He said: This is a breakthrough, marking China as only the second country in the world to independently master dog-somatic clone technology, after South Korea.

With this technology, by selecting a certain gene of the dog, we can breed an animal with more muscles, a better sense of smell and stronger running ability, which is good for hunting and police applications.

Liangxue has already created the worlds first gene-edited dogs. beagles named Hercules and Tiangou.

They double the amount of muscle mass of a typical dog of its breed by deleting a gene called myostatin.

The dogs have more muscles and are expected to have stronger runningability,which is good for hunting, police (military) applications, Liangxue told MIT review back in 2015.

We pay for your stories! Do you have a story for The Sun Online news team? Email us at tips@the-sun.co.uk or call 0207 782 4368

More here:

Chinese scientists who made muscly ‘super dog’ could create genetically-modified human CHILDREN next’ – The Sun

Oklahoma mediucal briefs, July 16 – NewsOK.com

From Staff Reports Published: July 16, 2017 5:00 AM CDT Updated: July 16, 2017 5:00 AM CDT

John Mulvihill, M.D., at The Children’s Hospital at OU Medical Center, has won a mentorship award from theAmerican Society of Human Genetics. [Photo provided]

Geneticist wins national recognition

John Mulvihill, an geneticist at The Children’s Hospital at OU Medical Center, has been awarded the American Society of Human Genetics mentorship award. The award recognizes those with records of accomplishments as mentors. He will receive the $10,000 award at the national group’s annual meeting on Oct. 20 in Orlando, Florida.

Back-to-school shots available

The Oklahoma City-County Health Department is offering back-to-school immunizations for students at three locations across Oklahoma City. Immunizations will be offered Monday through Thursday from 8 a.m. to 4 p.m. and 8 a.m. to noon on Friday. A copy of the students immunization records is required. Immunization services will be offered at:

Gary Cox Partner Building, 2700 NE 63

South Wellness Campus, 2149 SW 59, Suite 104

West Clinic, 4330 NW 10

Birth certificates needed for school

The Oklahoma State Department of Health is urging families to begin requesting birth certificates as they prepare to send their children back to school. The busiest month of the year for requests is August and long lines are normal. The cost is $15 for a copy. Information can be found online at http://vr.health.ok.gov.

Mumps still a problem in state

Kristy Bradley, state epidemiologist, confirmed that the state is still facing a problem with mumps. Oklahoma and Garfield counties are still seeing cases of mumps transmission. The state has had 152 cases since January.

From staff reports

See more here:

Oklahoma mediucal briefs, July 16 – NewsOK.com

Decimal Points: Adventures in DNA – Greensboro News & Record

Though I have to admit my background in the hard sciences is very limited, the use of DNA to unravel the mysteries of the past especially human evolution and genealogy is something I find absolutely fascinating. A couple of years ago, I finally gave in to the urge and paid a genetic testing company to test my Y chromosome line. Thats the line of your paternal ancestry thats passed down from one father to another.

Since traditional documentary sources on my fathers family peter out in the late 18th century, Id hoped this would help me tie in with another more distant line of Coles.

DNA testing didnt really help much with my Cole genealogy, but I still havent given up on what it might tell me about my past. Just recently I tried autosomal testing, which examines the 22 pairs of chromosomes we have in addition to our X and Y sex chromosomes.

One of the things autosomal testing will give you is a pretty good idea of your national and ethnic ancestry. Since Cole is an English surname, I wasnt surprised to see an autosomal finding of 49 percent UK ancestry, but I was a bit surprised that I was 32 percent Scandinavian (though my prior Y chromosome test had indeed also revealed some Scandinavian matches). The rest of my other autosomal origins (Celtiberian, Sephardic Jew and other European) came in at 5-9 percent each.

When I received the autosomal findings, I remembered Bryan Sykes Saxons, Vikings, and Celts: The Genetic Roots of Britain and Ireland (2006) and thought it might shed some light on the Scandinavian result or at least, suggest a theory to explain it. Sykes, who is a professor of human genetics at Oxford, also is author of the popular The Seven Daughters of Eve (2001), which explores how virtually everyone of European descent can trace his or her ancestry back to one of seven women.

As most everyone knows who is familiar with U.K. history, between the eighth and 11th centuries AD Vikings, mainly from modern-day Norway and Denmark, raided and invaded the coasts of the British Isles. In 866 AD, they even captured York, one of the largest cities in England at the time.

Though Sykes was working with Y and X chromosome matches rather than autosomal DNA, his research identified especially high concentrations of Viking DNA (37 to 42 percent) in the Northern Isles (Shetland and Orkney). Perhaps these and other areas of old U.K. Viking settlements are places I should look for my own ancestry assuming Im interpreting all this right.

The complexity of all this DNA stuff reminds me that I used to kid around about being a low-browed Neanderthal, the ancient Eurasian humanoid species, extinct since about 30,000 B.C., which is genetically closest to Homo sapiens. In his investigations in the U.K., Sykes wrote about a story hed heard of alleged living Neanderthals in the mountains of Wales near Plynlimmon. Though Sykes didnt take this seriously of course, he did hope one day to find just one person with Neanderthal DNA.

Turns out he probably did in fact, Sykes has probably tested lots of them. DNA research has advanced since he wrote Saxons, Vikings, and Celts,and in 2010 Dr. Svante Pbo and his team at the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, succeeded in mapping the entire Neanderthal genome.

This led to a stunning finding: When they compared the Neanderthal genome to Europeans, Asians and Africans, the Max Planck scientists found just a little bit of Neanderthal DNA in modern humans of European and Asian ancestry. This meant that there must have been gene flow between Homo sapiens and Homo neanderthalensis, i.e., they interbred. The institutes work on Neanderthal DNA, detailed in Pbos Neanderthal Man: In Search of Lost Genomes (2014), set off a human evolutionary firestorm of sorts among scholars because it didnt neatly conform to the Out of Africa model, which holds that modern humans are descended from Homo sapiens and originated in Africa. I suppose all this means that Ive actually got a little Neanderthal in me, as well as Viking.

The work of Pbo and his colleagues is certainly wonderful stuff, but if you simply want a great read about DNA research, I cannot fail to mention James D. Watsons The Double Helix: A Personal Account of the Discovery of the Structure of DNA (1968). It was of course the work of Watson and Francis Crick in the early 1950s at Cambridge which led to the discovery of the structure of DNA.

The Double Helix is an enthralling story of scientific discovery written in a very witty and lucid style. I believe Ive read this book three times and now that I think of it, I think Ill read it again.

As for my own adventures in DNA, I still have at least one thing left to test my X chromosome or mothers line. Like my paternal ancestry, the paper trail gets fuzzy in the late 18th century. Who knows what surprises might be in store?

After that, maybe Neanderthal testing?

Tim Cole is a reference librarian with the Greensboro Public Library. Decimal Points is a regular feature provided by the library.

Read more:

Decimal Points: Adventures in DNA – Greensboro News & Record

Scientists Push Back Against Booming Genetic Pseudoscience Market – Gizmodo

The premise behind Yes or No Genomics is simple: Genetic disease is typically caused by a variation in at least one of the many thousands of genes in the human genome, so knowing whether your DNA code contains variants could suggest whether your health is at risk. And for just $199, the scientists at Yes or No Genomics can use special technology to determine that.

Except Yes or No Genomics isnt a real company. Its satire.

The mind behind this parody is Stanford geneticist Stephen Montgomery, who hopes the website he launched this week will highlight the extreme absurdity of many of the scientific consumer genetic tests now on the market. Fork over $199 to Yes or No Genomics, and you will find out, inevitably, that you do have genetic variants, because everyone does. And that specialized optical instrument used to determine this? A kaleidoscope.

Montgomery is one of a growing number of scientists pushing back against wild claims in the consumer genetics market, which is flush with tests promising to plumb the secrets of our DNA for answers to everything from what kind of wine well enjoy to what diseases were at risk of developing. These tests vary wildly in levels of absurdity. One test that recently earned eye-rolls promises to improve a childs soccer abilities with a personalized, genetics-based training regimen. In case its not clear, there is still no way to decode from DNA the perfect plan to turn your 7-year-old into a soccer star.

Clearly, there is a whole world of companies that are trying to take advantage of people, Montgomery told Gizmodo. Sports, health advice, nutrition…companies are coming out saying, We can look at your DNA and tell you what you should be doing. Really, though, were still trying to understand the basics of genetic architecture. We need to help people avoid getting caught in these genetic traps.

In the wake of that ridiculous Soccer Genomics test, Montgomerys parody site went viral among those who closely follow genetics developments on the web. And he isnt the only researcher who has realized that combatting psuedoscience in the annals of academic journals isnt enough.

For years, Daniel MacArthur, a geneticist at the Broad Institute, ran a blog dedicated in part to exposing bad science in the realm of genetics. Like many scientists, he now uses Twitter to call attention to bogus tests. Other reliable Twitter crusaders include UCLA geneticist Leonid Kruglyak, health policy expert Timothy Caufield, and CalTech computational biologist Lior Pachter. For every new pseudoscientific DNA test, it seems more voices join the chorus.

Its a pretty exciting time to be in genetics. Theres a lot happening, MacArthur told Gizmodo. But that also makes it really easy for people who dont know anything about genetics to enter the consumer market.

Plenty of the tests out there, MacArthur said, are relatively harmless. Finding out which wine youre genetically likely to enjoy probably isnt going to hurt much more than your wallet. But thats not always the case. MacArthur pointed to a simple genetic test that claimed it could detect autism, which he and his colleagues spoke out about after finding out the test had a patent in the works.

We were very confidant that the variants they were testing for had no relationship to autism, he said.

Genetics comes with this veneer of respectability and the public automatically thinks anything with the word genetics is trustworthy and scientific, he continued. It just isnt possible that there is a useful predictive test for soccer. For academics its easy to see that. But who is responsible for going out there and pushing back? Thats less clear.

In 2008, an European Journal of Human Geneticsarticleargued for better regulatory control of direct-to-consumer genetic testing, pointing out that many of these tests run the risk of being little better than horoscopes.

In rare cases, the Food and Drug Administration has stepped in. In 2013, it cracked down on 23andMe, ordering the company to cease providing analyses of peoples risk factors for disease until the tests accuracy could be validated. After gaining FDA approval, the company now provides assessments and risk factors on a small fraction of 254 diseases and conditions it once scanned for.

But the FDA has steered away from policing smaller, fringe companies like, say, those offering advice on your skin, diet, fitness and what super power you are most likely to possess. Some companies the FDA likely does not even have authority to police, since not all of them can be considered medical interventions.

Its kind of distressing to see [the FDA] go after 23andMe rather than companies that are lower profile, but doing science that is flatly incorrect, said MacArthur. What I would love to see would be an organization like the Federal Trade Commission really step in and take much more responsibility. Historically that just really hasnt happened.

Another thing MacArthur would like to see is companies list the scientific data underlying their claims. If consumers could easily see, for example, that the recommendation to drink apple juice from the company DNA Lifestyle Coach stemmed from a study of just 68 non-smoking men, they might more readily deduce how valid such a recommendation is.

Inspired by satirists like Stephen Colbert, Montgomery is interested in how effective parody might be as a tool to combat bad science. Ive gotten a lot of good reaction to the website, he said. I want to see how far can we take this as a joke.

But more than anything, he wants consumers to be wary of the ever-growing number salesmen peddling genetic snake oil.

We want people to understand which tests are actually useful, he said. People should be empowered in how they use this data.

Read more from the original source:

Scientists Push Back Against Booming Genetic Pseudoscience Market – Gizmodo


12345...102030...