The Resilience Project launched in 2014 with a unique vision by Stephen Friend and Eric Schadt that by studying massive numbers of healthy adults, scientists might find rare individuals who are unaffected by genetic variants that should induce disease. Genome analysis of these resilient people could uncover naturally occurring, protective mechanisms that would serve as novel treatments for people affected by these diseases.
«Most genomic studies focus on finding the cause of a disease, but we see tremendous opportunity in figuring out what keeps people healthy," said Eric Schadt, PhD, the Jean C. and James W. Crystal Professor of Genomics at the Icahn School of Medicine at Mount Sinai, and Founding Director of the Icahn Institute for Genomics and Multiscale Biology. «Millions of years of evolution have produced far more protective mechanisms than we currently understand. Characterizing the intricacies of our genomes will ultimately reveal elements that could promote health in ways we haven’t even imagined.»
In this study, researchers analyzed DNA from 12 previously collected data sets, using a newly developed targeted sequencing panel to screen 874 genes for 584 distinct genetic diseases. The diseases, which were mostly metabolic conditions, neurological diseases, or developmental disorders, present in childhood with severe symptoms. All genomes analyzed were from adults who had never been diagnosed with any of these diseases. A sophisticated,
«This study demonstrates the power of using big data to ask new biological questions," said Anne Wojcicki,
In narrowing the pool of potentially resilient people from an original list of nearly 16,000 candidates, the researchers encountered two significant challenges. First, more than 75% of the candidates were eliminated due to inaccurate or
«There’s an important lesson here for genome scientists around the world: the value of any project becomes exponentially greater when informed consent policies allow other scientists to reach out to the original study participants," said Stephen Friend, President of Sage Bionetworks, Professor of Genomics at the Icahn School of Medicine, and
«While most genomics research in medicine has been disease focused, this important work exemplifies the benefit of studying health and
«This work demonstrates the power of scale in analyzing root genetic causes of human disease, but more importantly human health. Its focus on studying healthy individuals to understand the things that keep them healthy sounds obvious but actually lies at the vanguard of a movement which puts the engaged study participant at the center of scientific research," said Vik Bajaj, PhD, Chief Scientific Officer of Verily, who was not involved in this study but has advocated for harnessing big data for improved healthcare. «This research also points to the need for more effective standardization in the generation and analysis of genetic data, a field in which the authors are
