The Resilience Project
The Resilience Project is a project, undertaken by the Icahn School of Medicine at Mount Sinai in collaboration with Sage Bionetworks.
Overview
The project seeks to identify protective factors against disease through collaboration with people who have significant risk factors for disease that nevertheless do not manifest typical signs and symptoms. In a pilot study, big data was used to identify individuals with apparent resistance to severe genetic disease.This approach may seem weird, since the gene that is known to cause a genetic disorder could also be dealt with 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". So rather than having to deal with these problems, Stephen Friend decided to use a workaround method.
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. 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
- Acampomelic campomelic dysplasia
- Atelosteogenesis
Data
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 Centre for Population Genomics 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