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

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

Siyuan Liu, MD, PhD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Basic and translational research of treatment resistance in cancers of the nervous system using high throughput functional genomics and epigenetic engineering approaches.

Jacquelyn Maher, MD

Primary Thematic Area: 
Tissue / Organ Biology & Endocrinology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
NAFLD disease modeling using patient-derived iPSCs

Alexander Marson, MD, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Immunology
Research Summary: 
Our group employs an integrative genomics approach to decode the genetic programs governing CD4+ T-cell sub-specialization.

Michael Mcmanus, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Developmental & Stem Cell Biology
Research Summary: 
Noncoding RNAs - the Dark Matter of the Genome
Mentorship Development: 

4/29/19 - Sharpening your Mentoring Skills (SyMS) 
5/26/20 - Effective Strategies for IDPs for Partial Resumption of Lab Research
11/10/20 - Optimizing the Efficiency of Your Lab
2/16/21 - Three Truths and Three Tries: Facing and Overcoming Critical Social Justice Challenges at the Micro, Mezzo, and Macro Levels
5/2021 - Sharpening your Mentoring Skills (SyMS) 

Mark Moasser, MD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Tyrosine kinase oncogenes in human cancer

Maxence Nachury, PhD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Mechanisms of signaling and trafficking at the primary cilium, biogenesis of extracellular vesicles.
Mentorship Development: 

12/19/19    ACRA: Setting Training Expectations for Trainees on the Academic Career Track (1.5 hours)
12/8/20    Setting Expectations with a "Welcome to the Lab' Letter (Parts 1 and 2)

Kayarat Nair, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Neurobiology
Research Summary: 
Genetics and biology of ocular diseases

Renuka Nayak, MD, PhD

Primary Thematic Area: 
Immunology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Elucidating the impact of the human gut microbiome on the treatment of autoimmune disease. Microbiology, translational studies with human samples, metagenomics, gnotobiotics, metabolomics, immunology.
Mentorship Development: 

2017 - Scientific Leadership and Laboratory Management Course, UCSF
1/2022 - DEI Champion Training
10/2022 - UCSF-TRAIN-UP program (now called Inclusive Research Mentor/Manager Training)
2/2022 - Raising a Resilient Researcher (NIH-OITE)

Ross Okimoto, MD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
The Okimoto lab aims to understand how transcriptional dysregulation leads to cancer growth and metastasis.

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