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

Jill Hollenbach, PhD, MPH

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Immunology
Research Summary: 
Our lab specializes in the analysis of highly polymorphic immunogenomic regions in the context of immune function, human health and disease, and evolutionary biology.

Chris Hsiung, PhD, MD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Immunology
Research Summary: 
Engineering and understanding gene regulation; combinatorial functional genomics; tissue biology

Benjamin Huang, MD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Therapeutics and Functional Genomics in Hematologic Cancers

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.
Mentorship Development: 

4/2024 - Supporting Learners in Distress

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: 

11/2020 - 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

Aimee Kao, MD, PhD

Primary Thematic Area: 
Neurobiology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Pathophysiology of Neurodegenerative Diseases: Aging, Stress, Lysosomes and Protein Homeostasis.
Mentorship Development: 

4/2019 - Sharpening your Mentoring Skills (SyMS) with Sharon Milgram (Mission Bay)    
11/2020 - Building Community in the UCSF MSTP 
9/2020 - Mentoring Across Differences
2/2021 - Three Truths and Three Tries: Facing and Overcoming Critical Social Justice Challenges at the Micro, Mezzo, and Macro Levels    
9/2021 - Neuroscience Graduate Program - Disabilities Awareness Training
4/2022 - Setting Expectations with a "Welcome to the Lab" Letter
1/2023 - Faculty Development Training: Supervising People Who Aren't You: Mentoring/Managing Different Work Styles
4/2023 - Supporting Learners in Distress

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.

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