About
Ali Torkamani, PhD is Professor of Integrative Structural and Computational Biology at Scripps Research and Director of Genome Informatics at the Scripps Research Translational Institute — the institute Eric Topol founded — and a member of InsideTracker's Scientific Advisory Board. Trained in chemistry at Stanford and biomedical sciences at UC San Diego, he has spent his entire faculty career at Scripps building the methods to read individual genomes for clinical risk. His work spans the Wellderly Study of whole-genome sequencing in healthy aged adults (Cell, 2016), the foundational polygenic risk score review in Nature Reviews Genetics (2018), and MyGeneRank, the app-based platform he runs for delivering and studying genetic risk communication.
What to Know
Signature approach
Torkamani's research thesis is that polygenic risk — the small effects of thousands of genetic variants summed together — can be made clinically actionable when paired with disciplined risk communication. His group sequences whole genomes (the Wellderly Study of healthy aged adults), builds and benchmarks polygenic risk scores for common diseases like coronary artery disease, and tests how people respond when those scores reach them through tools like the MyGeneRank app.
What sets them apart
- Defined the field's reference review. The 2018 Nature Reviews Genetics article with Wineinger and Topol — The personal and clinical utility of polygenic risk scores — is one of the most-cited PRS papers anywhere, the piece that took polygenic scoring from research method to clinical concept.
- Citation weight unusual for an SAB. 17,500+ citations, h-index 61 on Google Scholar, 100+ peer-reviewed publications.
- Runs the cohort and the app, not just the lab. The Wellderly Study sequenced healthy 80+ year-olds at Scripps; MyGeneRank is an active app-based study delivering polygenic risk scores to real users — a direct analog to InsideTracker's DNA scoring layer.
Affiliations
Scientific Advisor
Thought Leadership
Publications
- Whole-Genome Sequencing of a Healthy Aging Cohort · Cell, 2016
- The personal and clinical utility of polygenic risk scores · Nature Reviews Genetics, 2018
- Impact of polygenic risk communication: an observational mobile application-based study (MyGeneRank) · npj Digital Medicine, 2022
- De novo KCNB1 mutations in epileptic encephalopathy · Annals of Neurology, 2014
- Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia · Annals of Neurology, 2014
Notable Collaborators
- Eric J. Topol, MD · Founder of Scripps Research Translational Institute and senior co-author on the 2018 Nature Reviews Genetics polygenic risk score review
- Nathan E. Wineinger, PhD · Scripps Translational Institute biostatistician and co-author on the 2018 polygenic risk score review
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