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.

External Links:

Participating Faculty

Nadav Ahituv, PhD

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

Mark Anderson, MD, PhD

Primary Thematic Area: 
Immunology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
The Genetic Control of Autoimmune Disease

Anil Bhushan, PhD

Primary Thematic Area: 
Developmental & Stem Cell Biology
Secondary Thematic Area: 
Human Genetics

Trever Bivona, MD, PhD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Molecular characterization and precision treatment of solid cancers.

Laura Bull, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Tissue / Organ Biology & Endocrinology
Research Summary: 
Genetics approaches to study of the biology of the liver in health and disease

Esteban G. Burchard, MD, MPH

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
None
Research Summary: 
Pharmacogenomics and Genetic Epidemiology of Pulmonary Diseases

Jeffrey Bush, PhD

Primary Thematic Area: 
Developmental & Stem Cell Biology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Signaling control of craniofacial development and congenital disease

Atul Butte, MD, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Immunology
Research Summary: 
Dr. Butte builds and applies tools that convert more than 400 trillion points of molecular, clinical, and epidemiological data into diagnostics, therapeutics, and new insights into disease.

James Cleaver, PhD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
DNA Repair Mechanisms and Human Disease

Philip Coffino, MD, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
None
Research Summary: 
Proteasomes, substrate recognition and processing

Eric Collisson, MD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
I am a medical oncologist with a specific interest in the genomics of cancer.

Joseph Costello, PhD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Mechanistic and Translational Cancer Research using Genomic and Epigenomic Approaches

Pages