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

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

Seth Shipman, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Developmental & Stem Cell Biology
Research Summary: 
Engineering Molecular Technologies for Human Disease

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.

Marina Sirota, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Immunology
Research Summary: 
The Sirota Lab aims to develop computational integrative methods to inform disease diagnostics and therapeutics. Our goal is to integrate different types of omics and clinical data to better understand the role of the immune system in disease.
Mentorship Development: 

11/10/20    Optimizing the Efficiency of Your Lab

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
Mentorship Development: 

5/25/21  Sharpening your Mentoring Skills (SyMS) 

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
Mentorship Development: 

11/23/20   Building Community in the UCSF MSTP

Matthew Stachler, MD, PhD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
We strive to understand the events that drive progression of pre-malignant disease into invasive cancer, focusing on gastric and esophageal adenocarcinoma.

Christina Theodoris, MD, PhD

Primary Thematic Area: 
Developmental & Stem Cell Biology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Our lab leverages cutting-edge machine learning and experimental genomics to map the gene regulatory networks disrupted in cardiovascular disease and discover network-correcting therapeutics.

Christian Vaisse, MD, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Tissue / Organ Biology & Endocrinology
Research Summary: 
Genetics of Metabolic Diseases

Harish Vasudevan, MD, PhD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
The Vasudevan Laboratory studies growth factor signaling through receptor tyrosine kinases and the Ras signaling pathway in development and cancer with an emphasis on neurofibromatosis.

Dan Wagner, PhD

Primary Thematic Area: 
Developmental & Stem Cell Biology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Whole embryo single-cell developmental genomics and lineage; using zebrafish embryos to model human birth defects
Mentorship Development: 

4/23/20    Effective Strategies for IDPs
4/30/20    Mental Health in a Pandemic: Q&A for Faculty
11/10/20    Optimizing the Efficiency of Your Lab

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