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

Nadav Ahituv, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Developmental & Stem Cell Biology
Research Summary: 
Gene regulation and human disease
Mentorship Development: 

4/2019 - Acknowledging and Negotiating the Mentee-Mentor Tensions Inherent in the Research Lab
4/2019 - Sharpening your Mentoring Skills (SyMS) with Sharon Milgram
6/2020 - Your Role in Workplace Diversity
10/2020 - DEI Champion Training
2/2021 - Three Truths & Three Tries: Facing & Overcoming Critical Social Justice Challenges at the Micro, Mezzo & Macro Levels
10/2021 - Sharpening Your Research Mentoring Skills
5/5/2022 - PSPG Faculty Community Circle
12/2022 - Faculty Development Training: Faculty as People Managers
10-11/2023 - UCSF Inclusive Mentor/Manager Training

Mark Anderson, MD, PhD

Primary Thematic Area: 
Immunology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
The Genetic Control of Autoimmune Disease
Mentorship Development: 

11/2020 - Building Community in the UCSF MSTP 
2/2021 - Three Truths and Three Tries: Facing and Overcoming Critical Social Justice Challenges at the Micro, Mezzo, and Macro Levels    
4/2021 - Allyship Taking Action

Paola Betancur, PhD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Gene regulation in health and disease

Anil Bhushan, PhD

Primary Thematic Area: 
Developmental & Stem Cell Biology
Secondary Thematic Area: 
Human Genetics

Trever Bivona, MD, PhD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Molecular characterization and precision treatment of solid cancers.

Rohit Bose, MD, PhD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
We study tumor evolution, drug sensitization and oncogene network alterations in patients in order to improve precision medicine therapies for hormone-related and genitourinary cancers.
Mentorship Development: 

5/2021 - Sharpening your Mentoring Skills (SyMS)
6/2022 - Career Conversations

Abby Buchwalter, PhD

Primary Thematic Area: 
Developmental & Stem Cell Biology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
We seek to understand how the organization of the nucleus is established, specialized across cell types, and maintained over time to influence cellular identity.
Mentorship Development: 

11/2019 - Equity and Inclusion in the Lab (2 hours)
11/2020 - Optimizing the Efficiency of Your Lab
5/2021 - Sharpening your Mentoring Skills (SyMS)
1/2022 - Equity Based Interview Practices

Laura Bull, PhD

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
Tissue / Organ Biology & Endocrinology
Research Summary: 
Genetics approaches to study of the biology of the liver in health and disease
Mentorship Development: 

1/2022 - Equity Based Interview Practices

Esteban G. Burchard, MD, MPH

Primary Thematic Area: 
Human Genetics
Secondary Thematic Area: 
None
Research Summary: 
Pharmacogenomics and Genetic Epidemiology of Pulmonary Diseases

Jeffrey Bush, PhD

Primary Thematic Area: 
Developmental & Stem Cell Biology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
Signaling control of mammalian morphogenesis and congenital disease
Mentorship Development: 

5/2021 - Sharpening your Mentoring Skills (SyMS)
6/2022 - Career Conversations

Eric Collisson, MD

Primary Thematic Area: 
Cancer Biology & Cell Signaling
Secondary Thematic Area: 
Human Genetics
Research Summary: 
I am a medical oncologist with a specific interest in the genomics of cancer.

Ryan Corces, PhD

Primary Thematic Area: 
Neurobiology
Secondary Thematic Area: 
Human Genetics
Research Summary: 
The Corces Lab studies the genetic and epigenetic underpinnings of neurodegenerative diseases using primary human tissue, multi-omic profiling, and large-scale functional genomics assays.
Mentorship Development: 

11/2020 - Optimizing the Efficiency of Your Lab
2/2021 - 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)
9/2021 - Neuroscience Graduate Program - Disabilities Awareness Training
6/2022 - Career Conversations
10-11/2023 - UCSF Inclusive Mentor/Manager Training

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