Human Genetics

The intellectual exchange between human genetics and biomedical science has produced some of the most important and fruitful scientific discoveries of the past 50 years. The advances in human genetics and genomics made possible by the Human Genome Project and its aftermath have revolutionized the way scientific investigation is carried out in the areas of human disease and its animal models. In addition, the elucidation of the genetic contribution to literally thousands of human diseases has provided innumerable fundamental insights into normal biological function.

Many laboratories at UCSF use genetic approaches to untangle problems as diverse as infertility, cancer, adverse drug reactions, asthma, autism, birth defects, neurological diseases, obesity, diabetes and many others. Our faculty are leaders in the development of cutting-edge genome technologies including microarrays, comparative genome hybridization (CGH), whole-genome sequencing, population genetics, genetic epidemiology and computational genomics. They also use model organisms to discover and explore fundamental pathways that can lead to human disease.

All entering BMS Students take a core Genetics course (BMS 255) and can opt to take a seminar course BMS270 entitled “Disease Discovery through the Lens of Genetics” offered every other spring. Through the UCSF Institute for Human Genetics, students can interact with numerous genetic-oriented faculty and attend monthly genetic and genomic technology seminars.

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Participating Faculty

Alexander (Sandy) Johnson, PhD

Primary Thematic Area: 
Virology & Microbial Pathogenesis
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Microbial Evolution and Pathogenesis

Martin Kampmann, PhD

Primary Thematic Area: 
Neurobiology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
We develop and apply innovative approaches, such as functional genomics in human iPSC-derived neurons and glia, to elucidate mechanisms and therapeutic strategies for neurodegenerative diseases.

Ophir Klein, PhD, MD

Primary Thematic Area: 
Developmental & Stem Cell Biology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Developmental genetics of organ formation and regeneration

Tom Kornberg, PhD

Primary Thematic Area: 
Developmental & Stem Cell Biology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Cell signaling and signal transduction

Gregory Ku, MD, PhD

Primary Thematic Area: 
Tissue / Organ Biology & Endocrinology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Whole genome approaches to identify novel regulators of pancreatic beta cell function

Pui-Yan Kwok, MD, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
None
Research Summary: 
Analysis of Complex Genetic Traits

Wilson Liao, MD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Virology & Microbial Pathogenesis
Research Summary: 
Integrated Genomic and Environmental Analysis of Inflammatory Skin Disease

Alexander Marson, MD, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Immunology
Research Summary: 
Our group employs an integrative genomics approach to decode the genetic programs governing CD4+ T-cell sub-specialization.

Michael Mcmanus, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Developmental & Stem Cell Biology
Research Summary: 
Noncoding RNAs - the Dark Matter of the Genome

Mark Moasser, MD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Tyrosine kinase oncogenes in human cancer

Maxence Nachury, PhD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Mechanisms of signaling and trafficking at the primary cilium, biogenesis of extracellular vesicles.

Kayarat Nair, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Neurobiology
Research Summary: 
Genetics and biology of ocular diseases

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