The Resilience Project is a project, carried out by the Icahn Institute for Genomics at Mount Sinai in collaboration with Sage Bionetworks . [1]
Overview
The project seeks to identify genetic mutations that confer protection to people that have known defects (which causes severe disorders with most people). Big data is used to find these genetic mutations by process of elimination . [2] [3] [4]
This approach may seem weird, since the gene is known to be a genetic disorder that may be affected by the use of gene therapy.
However, there is only one version of “good code” (even people who do not have a disorder). So, rather than having to deal with these problems, it is a good idea to use a workaround method. [5]
Diseases
Initially, the diseases were looked at at 170 severe, Mendelian, disorders [6] . However, the genetic data collected from 600,000 people was not enough [7] [8] (only positive results of 8 of the targeted diseases were found). The list of diseases is known from the following: [9] :
- Cystic fibrosis
- Smith-Lemli-Opitz syndrome
- Familial dysautonomia
- Epidermolysis Bullosa simplex
- Pfeiffer syndrome
- APECED
- Acampomelic campomelic dysplasia
- Atelosteogenesis
Data
DNA sequences from 589,306 people were used, obtained from 23andMe , the Beijing Genomics Institute , Broad Institute and others. [10]
Criticism
Positive assurance that they were indeed healthy, despite having the disease mutation. Human geneticist Daniel MacArthur of the Broad Institute in Cambridge, Massachusetts still looks at the study as “important as a proof-of-principle”. [11] [12]
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 [12]
Similar projects
- The 100000 Genomes Project
- US Precision Medicine Initiative’s 1 million person cohort study
See also
- Sema4 [13]
References
- Jump up^ “The Resilience Project – Join the Search . resilienceproject.com . Retrieved August 21, 2017 .
- Jump up^ “Genetic superheroes” . The Economist . Retrieved August 21, 2017 .
- Jump up^ “Analysis of nearly 600,000 genomes for resilience project” . Retrieved August 21, 2017 .
- Jump up^ “The Search for Genes That Prevent Disease – Icahn School of Medicine at Mount Sinai” . Icahn School of Medicine at Mount Sinai . Retrieved August 21, 2017 .
- Jump up^ “Do ‘genetic superheroes’ exist? Or did media overhype Resilience Project?” . April 19, 2016 . Retrieved August 21, 2017 .
- Jump up^ Warren, Mark. “The Cure for Cancer is Data-Mountains of Data” . Retrieved August 21, 2017 .
- Jump up^ “Search of over 500,000 genome yields thirteen patients apparently resistant to severe genetic diseases – GENES” . 11 April 2016 . Retrieved August 21, 2017 .
- Jump up^ It should be noted that these 600000 people were not known to have 170 diseases. Rather, they are everyday people in some cases who are known to cause a disease.
- Jump up^ Chen, Rong; Shi, Lisong; Hakenberg, Jörg; Naughton, Brian; Sklar, Pamela; Zhang, Jianguo; Zhou, Hanlin; Tian, Lifeng; Prakash, Om; Lemire, Mathieu; Sleiman, Patrick; Cheng, Wei-yi; Chen, Wanting; Shah, Hardik; Shen, Yulan; Fromer, Menachem; Omberg, Larsson; Deardorff, Matthew A .; Zackai, Elaine; Bobe, Jason R .; Levin, Elissa; Hudson, Thomas J .; Groop, Leif; Wang, Jun; Hakonarson, Hakon; Wojcicki, Anne; Diaz, George A .; Edelmann, Lisa; Schadt, Eric E .; Friend, Stephen H. (1 May 2016). “Analysis of 589,306 genomes identified resilient to severe Mendelian childhood diseases” . Nature Biotechnology . 34 (5): 531-538. doi : 10.1038 / nbt.3514 . RetrievedAugust 21, 2017 – via www.nature.com.
- Jump up^ Warren, Mark. “The Cure for Cancer is Data-Mountains of Data” . Retrieved August 21, 2017 .
- Jump up^ Williams, Sarah CP (8 March 2016). “Feature News: Genetic mutations you want” . Proceedings of the National Academy of Sciences . 113 (10): 2554-2557. doi : 10.1073 / pnas.1601663113 . PMC 4791022 . PMID 26957571 . Retrieved 21 August 2017 – via www.pnas.org.
- ^ Jump up to:a b ” ‘ Buffer genes’ may protect thesis 13 people from uncommon genetic diseases” . 11 April 2016 . Retrieved August 21, 2017 .
- Jump up^ Warren, Mark. “The Cure for Cancer is Data-Mountains of Data” . Retrieved August 21, 2017 .