The Resilience Project: Studying Mutants to Cure Genetic Diseases
Researchers from Sage Bionetworks and the Icahn School of Medicine at Mt. Sinai are pursuing a large-scale project to study the role of genetic expression in disease. Instead of studying people who are sick, they will study approximately one million perfectly healthy adults in order to screen for dormant genetic mutations. A small percentage of people have genetic mutations that are known to cause rare and debilitating childhood disorders, but remain healthy through adulthood. By studying these individuals, the researchers hope to identify environmental factors and interactions with other genes that may inhibit expression of these harmful mutations.
"The Resilience Project inverts the traditional approach to gene-based disease research by focusing on those who are healthy rather than those who are sick," said Dr. Friend of Sage Bionetworks in Science journal. "While rare, our initial research looking retrospectively at approximately 500,000 DNA samples does in fact identify handfuls of individuals who harbor disease-causing mutations yet remain unaffected. We believe that these rare individuals can provide a trove of information about other factors – genetic, environmental, and others – that can be used to improve the prevention, diagnosis, and treatment of disease."
This research could have implications for the treatment of many diseases that occur after childhood as well; genetic components have been found in the case of many adult-onset diseases such as inflammatory bowel disease, rheumatoid arthritis, type 1 diabetes, cancer, Alzheimer's disease, and schizophrenia.
Not only are they taking an innovative approach to the research itself, but in its method for collecting samples. They are crowdsourcing, taking volunteers from all over the world. Dr Friend stated in a TED talk about the project, "You can donate your DNA to medical research as we search for 'healthy' adults who have rare genetic changes that we'd expect to cause severe illness in childhood. We know that these 'resilient' people exist, and we believe if we can understand what is protecting them from illness, then we can make advances towards treating or even preventing these diseases."