Ali Torkamani

Ali Torkamani is a Professor at The Scripps Research Institute (TSRI) and Director of Genomics and Genome Informatics at the Scripps Research Translational Institute. His research focuses on leveraging genomic and informatic technologies to elucidate disease mechanisms, predict health risks, and develop personalized interventions. Key areas include genomic interpretation, rare disease discovery, machine/deep learning for disease risk prediction, and digital communication of genetic health risks.

Dr. Torkamani holds a Ph.D. in Biomedical Sciences from UC San Diego (2008) and a B.S. in Chemistry from Stanford University (2003). His career spans roles as an Assistant and Associate Professor at TSRI, and Director of Genome Informatics since 2012. He has authored over 100 peer-reviewed publications and contributed to Medscape references, with work featured in the popular press.

Research interests include:

• Genome-wide association studies (GWAS) and polygenic risk scoring
• Single-cell and transcriptomic analysis of disease
• AI-driven approaches for genomic data interpretation
• Epigenetic and structural genomic variants in neurodegenerative diseases

His recent work emphasizes translational applications, such as developing AI tools for coronary artery disease risk prediction and leveraging multi-omics data for Alzheimer’s disease psychosis research. He also contributes to ethical and technical standards in clinical AI through initiatives like the MI-CLAIM-GEN checklist.

Professional activities include roles as a genomics consultant, expert witness, and industry advisor. His lab focuses on bridging computational methods with clinical translation in precision medicine.