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

Ryan Hernandez, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
None
Research Summary: 
We study patterns of human genetic variation using large-scale data and the tools of population genomics.
Mentorship Development: 

3/10/20    Promoting Student Mental Health:A Presentation and Discussion (Staff and Faculty)    
4/23/20    Effective Strategies for IDPs    
4/30/20    Mental Health in a Pandemic: Q&A for Faculty    
2/18/21    Three Truths and Three Tries: Facing and Overcoming Critical Social Justice Challenges at the Micro, Mezzo, and Macro Levels    
2/19/21    DEI Champions Training

Franklin Huang, MD, PhD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Our lab uses cancer genomics to study the molecular mechanisms of carcinogenesis, cancer disparities, and cellular immortality.

Isha Jain, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Cancer Biology & Cell Signaling
Research Summary: 
We study how organisms interact with the environment -- more specifically, what happens when there are variations in oxygen levels in the atmosphere or vitamin/cofactor levels in the diet.
Mentorship Development: 

11/10/20    Optimizing the Efficiency of Your Lab

Daniel Johnson, PhD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
We investigate molecular mechanisms that contribute to the development and progression of head and neck cancer, and seek to develop novel therapeutic agents for this disease

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.
Mentorship Development: 

4/12/19    Acknowleding and Negotiating the Mentee-Mentor Tensions Inherent in the Research Lab (Mission Bay)    
4/30/20    Mental Health in a Pandemic: Q&A for Faculty    
6/10/20    Tools and Tips for Virtual Learning    
10/22/20    Gathering in Community: a Training for Faculty and Staff    
9/11/20    Mentoring Across Differences
9/24/20    DEI Champions Training

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

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

Sulggi Lee, MD, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Immunology
Research Summary: 
Clinical translational research to identify host genetic and immunologic predictors of infectious diseases (e.g., HIV and SARS-CoV-2) using high dimensional single cell and systems biology approaches.

Jingjing Li, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Developmental & Stem Cell Biology
Research Summary: 
Large-scale analysis of disease genomes by integrating multi-omics data, evolutionary insights, health records, and digitized clinical traits from imaging and wearable sensor readouts.

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

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