The Resilience Project is a project, undertaken by the

Icahn School of Medicine at Mount Sinai The Icahn School of Medicine at Mount Sinai (ISMMS or Mount Sinai), formerly the Mount Sinai School of Medicine, is a private medical school in New York City, New York, United States. The school is the academic teaching arm of the Mount Sina ...

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 Big data primarily refers to data sets that are too large or complex to be dealt with by traditional data processing, data-processing application software, software. Data with many entries (rows) offer greater statistical power, while data with ...

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 (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 A workaround is a bypass of a recognized problem or limitation in a system or policy. A workaround is typically a temporary fix that implies that a genuine solution to the problem is needed. But workarounds are frequently as creative as true so ...

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 Cystic fibrosis (CF) is a genetic disorder inherited in an autosomal recessive manner that impairs the normal clearance of Sputum, mucus from the lungs, which facilitates the colonization and infection of the lungs by bacteria, notably ''Staphy ...

Smith–Lemli–Opitz syndrome Smith–Lemli–Opitz syndrome is an inborn error of metabolism, inborn error of cholesterol synthesis. It is an autosome, autosomal recessive (genetics), recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrochole ...

Familial dysautonomia Familial dysautonomia (FD), also known as Riley–Day syndrome, is a rare, progressive, recessive genetic disorder of the autonomic nervous system that affects the development and survival of sensory, sympathetic, and some parasympathetic neuro ...

Epidermolysis Bullosa simplex Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . It is one of the major f ...

Pfeiffer syndrome Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the human skull, skull (craniosynostosis), which affects the shape of the head and face. The syndrome includes abnormalities of the hands an ...

Autoimmune polyendocrine syndrome type 1 Autoimmune polyendocrine syndrome type 1 (APS-1), is a subtype of autoimmune polyendocrine syndrome (autoimmune polyglandular syndrome). It causes the dysfunction of multiple endocrine glands due to autoimmunity. It is a genetic disorder, inherit ...

(APECED) * Acampomelic campomelic dysplasia * Atelosteogenesis

Data

DNA sequences from 589,306 people were used, obtained from

23andMe 23andMe Holding Co. is an American personal genomics and biotechnology company based in South San Francisco, California. It is best known for providing a direct-to-consumer genetic testing service in which customers provide a saliva testing, sali ...

Beijing Genomics Institute BGI Group, formerly Beijing Genomics Institute, is a Chinese genomics company with headquarters in Yantian, Shenzhen, Yantian, Shenzhen. The company was originally formed in 1999 as a genetics research center to participate in the Human Genome Pro ...

Broad Institute The Eli and Edythe L. Broad Institute of MIT and Harvard (IPA: , pronunciation respelling: ), often referred to as the Broad Institute, is a biomedical and genomic research center located in Cambridge, Massachusetts, United States. The institu ...

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

Participatory Study

In April 2020, the Resilience Project launched a participatory research study open to individuals in the USA.

Similar projects

The 100000 Genomes Project

U.S. Precision Medicine Initiative's 1 million person cohort study

Notes

References

{{DEFAULTSORT:Resilience Project, The Applied genetics Big data Databases in the United States Medical genetics Technology forecasting