Stanley F Nelson

Stanley F. Nelson, M.D., is Professor-in-Residence in five departments—Human Genetics, Pathology & Laboratory Medicine, Psychiatry & Biobehavioral Sciences, Neurology, and Pediatrics—at the David Geffen School of Medicine, UCLA. He holds the Dr. Allen and Charlotte Ginsburg Endowed Chair in Translational Genomics and directs multiple NIH-funded centers, including the UCLA clinical site of the Undiagnosed Diseases Network.

Education & Training

• B.S. Physics, University of Michigan, Ann Arbor (1982)
• M.D. Medicine, Duke University (1987)
• Residency – Pediatrics, UCSF (1990)
• Fellowship – Pediatric Hematology/Oncology, UCSF (1992)
• Post-doctoral Fellowship – Genomics, Stanford University (1993)

Research Focus

Dr. Nelson integrates large-scale genomics with deep phenotyping to uncover the molecular basis of rare Mendelian disorders. His laboratory has made major contributions to the genetics of Duchenne muscular dystrophy, autism spectrum disorder, congenital heart defects, and undiagnosed neurodevelopmental diseases. By deploying exome, genome and transcriptome sequencing in well-phenotyped patient cohorts, he identifies novel disease genes, elucidates modifier pathways and accelerates precision therapeutics.

Across more than 1,000 peer-reviewed publications (2016-2025 snapshot shown), recurring themes include:

• Dissection of dystrophin biology and exon-skipping strategies in DMD.
• Genomic architecture of autism and sex-differential recurrence risk.
• Implementation of RNA-seq-based diagnostics for rare neuromuscular and neurogenetic conditions.
• High-throughput drug-repositioning pipelines leveraging biomedical literature mining.

Honors & Scientific Awards

• Dr. Allen and Charlotte Ginsburg Endowed Chair in Translational Genomics
• Principal Investigator on >20 NIH grants (U01, R01, RC1, K11, T32)
• Member, Undiagnosed Diseases Network

Grants & Leadership

• NIH U01HG007703 – UCLA clinical site, Undiagnosed Diseases Network (PI)
• NIH R01NS073871 – Rapid Phenotyping for Rare Variant Discovery in Autism (PI)
• NIH RC1AR058333 – Enhancers of Therapeutic Exon Skipping for DMD (Co-PI)
• NIH T32GM008243 – UCLA Intercampus Medical Genetics Training Program (PI, 1987-2026)
• Multiple NINDS/NIMH & NHLBI Microarray Center grants (PI 2002-2011)

Labs & Teams

Dr. Nelson leads a translational genomics laboratory embedded within the UCLA Clinical Genomics Center and the Broad Stem Cell Research Center. His group collaborates closely with the Center for Duchenne Muscular Dystrophy, the UCLA Congenital Heart Defects BioCore, and precision-medicine programs spanning neurology, cardiology and pediatrics.