Buzz About Initial Findings from Mount Sinai's Resilience Project

By Bio-IT World Staff

April 12, 2016 | The first paper connected to the Resilience Project, an effort by scientists at the Icahn School of Medicine at Mount Sinai to find healthy individuals carrying mutations that seemingly ought to cause severe illnesses, was published yesterday in Nature Biotechnology. By identifying these “resilient” people whose bodies have somehow overcome the effects of dangerous genetic variants, the Mount Sinai team hopes to help uncover new mechanisms to fight serious diseases.

Although Mount Sinai has been gearing up to do in-house sequencing for the Resilience Project for the past two years, the first stage of the project published in the Nature paper only looked through existing genomic datasets shared by several research partners, most prominently the consumer genetics company 23andMe. The analysis, covering almost 600,000 people, turned up 13 candidates who seem to meet the criteria for “resilience,” carrying pathogenic mutations without displaying any disease symptoms. Unfortunately, none of these cases can so far be confirmed: in the absence of a dedicated research cohort for the Resilience Project, Mount Sinai does not have the ability nor the permission to re-contact these people and learn more about them.

At The Atlantic, Ed Yong speaks to a number of geneticists who are skeptical of these initial results, but still finds enthusiasm for the project as it enters its next phase of recruiting and sequencing new volunteers. Sarah Zhang of Wired explores more carefully the question of how re-contacting can be built into genomics projects moving forward. (Both pick up on the term “genetic superheroes” that lead author Stephen Friend likes to use for the resilient individuals the project has set out to find.)

Meanwhile, Jason Bobe, a Mount Sinai researcher helping to organize the Resilience Project’s next steps, was at the Bio-IT World Conference & Expo in Boston last week, where he offered a preview of both the Nature paper and the dedicated sequencing effort that will follow. Bobe is particularly focused on ways to get healthy people excited about participating in genomic research; his talk will be included in our ongoing coverage of the conference later this week.