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GWAS

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. Full story »

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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. Full story »

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