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

Jennifer Puck, MD

Primary Thematic Area: 
Immunology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Inherited disorders of lymphocyte development

Neil Risch, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
None
Research Summary: 
Human Genetics, Population Genetics, Statistical Genetics, Genetic Epidemiology

Davide Ruggero, PhD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Dynamics of translation control in gene expression, cancer, and disease

Mark Seielstad, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Immunology
Research Summary: 
Population Genetics and Human Genetics of Host Defense, Autoimmune Disease, and Diabetes

Licia Selleri, PhD, MD

Primary Thematic Area: 
Developmental & Stem Cell Biology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Genetic and regulatory control of morphogenesis in embryonic development, evolution, and disease

Kevin Shannon, MD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Aberrant Ras Signaling in Development and Cancer

Yin Shen, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Developmental & Stem Cell Biology
Research Summary: 
Functional genomics, gene regulation, 3D chromatin architecture, and human diseases

Elliott Sherr, MD, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Neurobiology
Research Summary: 
The genetics of autism and epilepsy: studies in cerebral development and connectivity

Joseph Shieh, MD, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Developmental & Stem Cell Biology
Research Summary: 
Genomic Determinants in Human Developmental Disorders

Anthony Shum, MD

Primary Thematic Area: 
Immunology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
The Shum Lab studies Mendelian disorders of autoimmunity that affect the lung using a variety of cellular, molecular and genetic approaches in animal models and in patient-derived cell lines.

David Solomon, MD, PhD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Molecular mechanisms governing chromosomal instability and oncogenesis

Deepak Srivastava, MD

Primary Thematic Area: 
Developmental & Stem Cell Biology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Molecular and Genetic Dissection of Cardiogenesis and its role in human disease

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