How crowdsourcing DNA solved the mystery of Huskies’ blue eyes

The piercing blue eyes of a Siberian Husky finally have a genetic explanation thanks to crowdsourcing of dog DNA. Researchers from a company called Embark compared the genetic codes from over 6,000 dogs and found that a duplication in chromosome 18 results in vibrant blue eyes. This duplication is mainly found in Siberian Huskies, suggesting that a mutation somewhere in their ancestry is what caused the stunning phenotype. The finding highlights the incredible power of crowdsourcing DNA and the possibility of using it to advance medical research.

Embark offers genetic information about your pet, similar to 23andMe but for man’s best friend. On top of providing you with research, the company retains the genetic information they receive, creating a giant genomic database: an invaluable research tool. They say that by identifying ancestry and genetic risk factors, owners can better care for their pets. Some customers may use the service just for a laugh, but Embark’s real goal is to push research into canine diseases forward.

“We’re in it to make dogs healthier,” says founder Adam Boyko via Mother Nature Network, “and a nice addition to that is we’re able to look at things like ancestry.”

Genome-wide association studies are one of the most effective ways of discovering how your genetics links to disease. It works by looking through entire genomes and identifying markers of genetic variation, called SNPs. They do this for a group who have the disease and a group who do not. If certain SNPs are found much more frequently on those with the disease, it is likely a region of the genome linked to it. Since the technology was first invented it has been used to find regions of DNA linked to obesity, Parkinson’s, cancers, blindness and depression to name just a few.

However, these studies require a huge amount of data. In 2016, 23andMe teamed up with Pfizer to identify genetic markers for depression. After studying over 450,000 genomes from customers, they found 15 regions which are linked to a risk of struggling with serious depression. The researchers say this information is invaluable, possibly allowing identification of people more likely to experience post-natal depression and ensuring adequate resources are provided for them.

The more genomes they can sequence the more likely that the SNPs they identify will be significant. Crowdsourcing companies have a huge amount of information sent to them and so they are ideal partners for this sort of research.

23andMe state that the average (consenting) customer’s DNA is used in 230 separate studies into a variety of diseases. Haydeh Payami from the New York State Department of Health said that “What 23andMe did in a matter of years would have taken several decades and tens of millions of dollars if done conventionally”.

Of course, there are disadvantages. When DNA is sent in by customers at both Embark and 23andMe, they fill out a survey of what illnesses they have which then informs the studies. There is no clinical involvement and so there is always a chance that people have either lied or are undiagnosed and so unable to make an informed judgment.

Overall, this approach to genetic research is saving labs a lot of money in data collection as well as ensuring that the results are statistically significant since the number of participants is so huge. It may be looking into husky eyes now, but in five or 10 years this could be the future for diagnosing, treating, and eventually curing genetic diseases.

Image Credit: borboletadosol via Pixabay

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