Studying ‘Genetic Superheroes’ May Unlock Mystery Around Some Devastating Diseases
People who are born with mutations that should have caused a disease are offering hope to researchers, who say their bodies could be carrying a gene that produces a protective protein. "This is a powerful opportunity to benefit many people by searching within one person to find something that could help many," says Dr. Stephen Friend, who helped lead the work.
NPR:
How Do 'Genetic Superheroes' Overcome Their Bad DNA?
Scientists say they've figured out how to track down people they call "genetic superheroes." These are people who remain healthy even though they were born with genetic mutations that would usually lead to devastating disorders. If enough of these people can be identified and studied, the researchers hope they could yield important new insights into the causes of many genetic disorders and possibly lead to new ways to prevent or treat them. (Stein, 4/11)
The Seattle Times:
Genetic ‘Superheroes’ Survive Despite Devastating Mutations, Seattle-Led Study Finds
A new analysis of genetic data from nearly 600,000 people has detected a tiny subset of disease-resistant “superheroes,” individuals who have mutations that should have caused devastating disease — but didn’t, a Seattle scientist reported Monday. Dr. Stephen Friend, president of Seattle’s Sage Bionetworks, and his colleagues at the Icahn School of Medicine at Mount Sinai in New York, sifted through a massive data set pooled from a dozen previous genetic studies. (Aleccia, 4/11)
