Nadav Ahituv, PhD

Department of Bioengineering and Therapeutic Sciences
+1 415 476-1838
Research Description: 

The Ahituv lab is focused on understanding the role of regulatory sequences in human biology and disease. Through a combination of comparative genomic strategies, biochemical assays, regulatory element analysis, human patient samples, mouse and fish genetic engineering technologies, and massively parallel reporter assays they are working to elucidate mechanisms whereby genetic variation within these sequences lead to changes in human phenotypes.

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Developmental & Stem Cell Biology
Research Summary: 
Gene regulation and human disease



ABCG2 regulatory single-nucleotide polymorphisms alter in-vivo enhancer activity and expression.

Pharmacogenetics and genomics

Eclov RJ, Kim MJ, Chhibber A, Smith RP, Ahituv N, Kroetz DL

Variant Interpretation: Functional Assays to the Rescue.

American journal of human genetics

Starita LM, Ahituv N, Dunham MJ, Kitzman JO, Roth FP, Seelig G, Shendure J, Fowler DM

Gene Regulatory Elements, Major Drivers of Human Disease.

Annual review of genomics and human genetics

Chatterjee S, Ahituv N

Limb development: a paradigm of gene regulation.

Nature reviews. Genetics

Petit F, Sears KE, Ahituv N