Stories about: GWAS

Making leaps and bounds in 10 years of genome-wide association studies

A Broad Institute cartoon explains what SNPs have to do with genome-wide association studies
A clip from a Broad Institute infographic explains what researchers look for during genome-wide association studies. Download full infographic here. Credit: Susanna Hamilton/Karen Zusi of the Broad Institute.

In 2007, when the first genome-wide association studies (GWAS) got underway, researchers began to realize just how poorly they had previously been able to predict which genes might be related to certain diseases.

“I think we were all surprised how bad our candidate gene lists were,” said Joel Hirschhorn, MD, PhD, in a recent podcast with the Broad Institute of MIT and Harvard. Hirschhorn, a pioneer in GWAS, now leads the international Genetic Investigation of Anthropometric Traits (GIANT) Consortium, which has analyzed the genomes of hundreds of thousands of people over the last several years.

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Gene sifting for gene snipping: GWAS as a source of gene editing targets

Magnifying glass people GWAS gene editing
(Digital Storm/Shutterstock)

When genome-wide association studies (GWAS) first started appearing 10 years ago, they were heralded as the answer to connecting human genetic variation to human disease. These kinds of studies—which sift population-level genetic data—have revealed thousands of genetic variations associated with diseases, from age-related macular degeneration to obesity to diabetes.

However, thus far GWAS have largely come up short when it comes to finding new therapies. Few significant drug targets have come to light based on GWAS data (though some studies suggest that these studies could help drug makers find new uses for existing molecules).

Part of the problem may be that, until now, the right tools haven’t been available to exploit GWAS data. But a few recent studies—including two out of Dana-Farber/Boston Children’s Cancer and Blood Disorders Center—have used GWAS data to identify therapeutically promising targets, and then manipulated those targets using the growing arsenal of gene editing methods.

Does this mean that GWAS’ day has finally come?

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When to tell: The numbers problem with genomic studies and the “incidental finding”

Do the cells in this blood harbor a potentially harmful gene? If the answer is yes, but the person it belongs to donated it for unrelated research, it's not yet clear when - or how - to tell them. (JHeuser/Wikimedia Commons)

Snippets of tissue, vials of blood and tubes of DNA from hundreds of thousands of people sit in freezers and liquid nitrogen tanks right now in laboratories across the globe. They come from people like you and me, donated in the hope that our genes researchers will be able to glean insights for the next breakthroughs for diseases common and rare.

Whenever we sign a consent form and roll up our sleeve, we don’t just join the community of research. We also become part of a debate that has been raging among researchers, clinicians and ethicists for years: What if our DNA sequence turns up bad news unrelated to the research we signed up for?

“There is an emerging consensus among genomics researchers that we have an ethical responsibility to tell participants if we find, in the course of a research study, genetic variations that could impact their healthcare decisions,” says Kenneth Mandl, who directs the Intelligent Health Laboratory (IHL)  in the Children’s Hospital Informatics Program (CHIP).

This responsibility can quickly turn into a numbers problem – a massive administrative burden. Consider that there are more than 104,000 human genetic variations now cited in the medical literature with links to human disease.

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Connecting unexpected dots between cancer and diabetes

George Daley and his lab may have found a new way to connect the dots between cancer and diabetes. (michelle.gray/Flickr)

Most of us think about cancer as a disease of genes gone awry – of mutations, deletions, duplications, etc. causing unchecked cell growth.

But could you also view cancer as a metabolic disorder, like type 2 diabetes? George Daley and his lab in the Stem Cell Transplantation Program at Children’s have found some intriguing molecular links that make this a plausible idea.

While it’s not yet clear what this means for patients with either disease, the findings help untangle some very perplexing data about human genetics and diabetes risk, and could change doctors’ thinking about the treatment of both conditions down the road.

Scientists have long known that cancerous and healthy cells don’t use sugar in the same ways.

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