The Resilience Project

The Resilience Project is a project, undertaken by the Icahn Institute for Genomics at Mount Sinai in collaboration with Sage Bionetworks.

Overview
The project seeks to identify genetic mutations that confer protection to people that have known genetic defects (which causes severe disorders with most people). Big data is used to find these genetic mutations by process of elimination.

This approach may seem weird, since the gene that is known to cause a genetic disorder could also be dealt with (head on) by just using overwriting the genetic code of this faulty gene with "good code" using gene therapy.

However, there is never just one version of "good code" (even people that do not have a disorder, the gene that is otherwise known to cause the defect can be present with different code). So rather than having to deal with these problems, Stephen Friend decided to use a workaround method (which consists of the approach noted above).

Diseases
Initially, the diseases the project looked at were 170 severe, Mendelian, disorders. However, the genetic data gathered from 600,000 people was not enough(only resilient individuals of 8 of the targeted diseases were found). The list of diseases it know look at is the following::
 Cystic fibrosis
 Smith–Lemli–Opitz syndrome
 Familial dysautonomia
 Epidermolysis Bullosa simplex
 Pfeiffer syndrome
 Autoimmune polyendocrine syndrome type 1 (APECED)
 Acampomelic campomelic dysplasia
 Atelosteogenesis

Data
DNA sequences from 589,306 people were used, obtained from 23andMe, Beijing Genomics Institute, Broad Institute and others.

Criticism
Critics have argued that the researchers could not contact any of people to positively ensure that they were indeed healthy, despite having the disease mutation. Human geneticist Daniel MacArthur of the Broad Institute in Cambridge, Massachusetts still regards the study as “important as a proof-of-principle”.

In response to this criticism, Friend and Schadt have modified their Resilience Project by inviting new volunteers who agree to be recontacted to participate through a website

Similar projects
 The 100000 Genomes Project
 U.S. Precision Medicine Initiative’s 1 million person cohort study

Notes

References

Category:Applied genetics
 
Category:Databases in the United States
Category:Emerging technologies
Category:Medical genetics
Category:Molecular biology
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