Human Genetics at UCSF

In the Beginning: 1960s -1990s


Research on the genetic basis of human development, physiology, and inherited disorders, as well as the care of persons with hereditary diseases, has long been part of the history of UCSF. However, the first formal entity devoted to human genetics was the Division of Medical Genetics, established in 1967 in the Department of Pediatrics by Charles J. Epstein. Medical Genetics quickly evolved into a comprehensive and highly integrated service, responsible for virtually all clinical activities, training, and research activities in genetics, and based in the Departments of Pediatrics and of Obstetrics, Gynecology and Reproductive Sciences.

The members of this group played a major role in the development of many areas of medical genetics – a relatively new field in the late 1960s and early 1970s. They made major strides in prenatal diagnosis, enabling enhanced genetic counseling and treatment of genetic disorders. As formal activities in medical genetics were being established, a number of strong research and clinical groups emerged at UCSF to concentrate on a wide variety of genetic disorders ranging from arthritis, asthma, and heart disease to multiple sclerosis, dementia, skin diseases, and cancer.

The 1970s — DNA and the Era of Molecular Genetics

A few years after the establishment of clinical genetics at UCSF, seminal contributions of UCSF scientists led to the birth of recombinant DNA technology and ushered in the era of molecular genetics. These contributions changed the landscape of genetics and laid the foundation for new clinical diagnostics and treatments in the years to come. UCSF became a world leader in molecular genetics, which it remains to this day.

In 1973, Herb Boyer and his colleagues discovered the restriction enzyme EcoR1 and, with collaborator Stan Cohen at Stanford, invented DNA cloning, which revolutionized the pharmaceutical industry and allowed human genes to be examined in detail and “corrected” for the first time. J. Michael Bishop and Harold Varmus were awarded the 1989 Nobel Prize in Physiology or Medicine for their 1976 discovery of oncogenes, which gave rise to the understanding that human cancers were often caused by mutations within our RNA.

In 1978, Y.W. Kan and Andrée Dozy discovered the first polymorphism in human DNA by Southern blot analysis, launching the ability to map genes on human chromosomes. In 1979, Kan and Judy Chang used those same gene mapping techniques to show how missing genes cause disease. This work led to the development of a prenatal diagnostic test for β-thalassemia, an extremely prevalent and life-shortening blood disease. This first test paved the way for prenatal testing for scores of other “regional” mutations. Dr. Kan was awarded the 1991 Albert Lasker Clinical Research Award for his contributions to prenatal diagnostics.

With the passage of time, many outstanding programs were developed in microbial (bacterial, viral, yeast) genetics and various areas of model organism genetics, encompassing organisms as diverse as Drosophila, nematodes (C. elegans), zebra fish, and mouse. The Howard Hughes Medical Institute at UCSF also supported research in both human genetics and the genetics of other organisms, and a program in cancer genetics was organized within the Cancer Research Institute.

Building: 1980s – 1990s

Graduate and Medical Education

In concert with the the increased genetics research activities at UCSF, a Graduate Group in Genetics was established that offered a PhD degree in genetics within the Tetrad Program of the Program in Biological Sciences (PIBS). A second training program in Genetics and Genomics was established within the Biomedical Sciences Graduate Program (BMS), with emphasis on disease-related research. A third training program was developed in the School of Pharmacy, specifically in the area of Pharmaceutical Sciences and Pharmacogenetics (PSPG). IHG faculty have played a significant role in developing the training components of these programs.

The Program in Human Genetics and the Genomics Core Facility

In the mid 1990s, interest began to increase throughout UCSF in the expansion of activities in the area of human genetics.

In 1997, the School of Medicine established the Program in Human Genetics. This program, led by Charles Epstein and Ira Herskowitz, aggregated scientists from multiple disciplines to identify genes that cause genetic diseases and, ultimately, to predict, treat, and prevent their recurrence. The program formed the basis for what is now the Institute for Human Genetics, building upon the strong scientific base through recruitments, philanthropy, and space commitments to group genetics researchers at the Parnassus and Mission Bay campuses and enable continued growth.

Concurrent with the Program in Human Genetics, Ira Herskowitz and Charles Epstein established a Genomics Core Facility to provide the newest sequencing and genotyping technologies  to support and foster a growing UCSF genetics community.  The Genomics Core Facility provides full service genomics services ranging from DNA extraction to the latest sequencing and genotyping technologies. Most recently, with the help of a gift from the Lamond Family Foundation, the Institute invested in a new high performance computing cluster to expand the analytic services of the whole exome and whole genome sequence data.

The New Millennium

The Institute for Human Genetics

In 2001, as a consequence of the UCSF expansion to Mission Bay and new space availability at Parnassus Heights, the Program was slated for further development. The Institute for Human Genetics grew out of this recommendation, with committed resources for space,  new faculty positions, and an administrative structure.

Dr. Risch’s background in mathematics, population genetics and human disease, and genetic epidemiology helped drive UCSF’s growth in computational genomics made possible by the mapping of the human genome and the more widely available technologies in genetic analysis.

After a national search for a leader, on January 1, 2005, Neil Risch became the Lamond Family Foundation Distinguished Professor in Human Genetics and the inaugural Director of the Center for Human Genetics. Dr. Risch’s background in mathematics, population genetics and human disease, and genetic epidemiology helped drive UCSF’s growth in computational genomics made possible by the mapping of the human genome and the more widely available technologies in genetic analysis.

Philanthropic gifts from the Lamond Family Foundation provided an endowed professorship and research fellowship, and a state-of-the-art technology fund to advance the Genomics Core Facility. In October of 2006, the Center was established as an organized research unit and became the Institute for Human Genetics.  Since its inception, the Institute has become one of the leading centers for human genetics research, education and practice in the world.

The Institute now comprises over 70 faculty members (3 emeritus) with broad-ranging research and clinical interests across a variety of prenatal, pediatric and adult conditions, as well as methodologic areas such as human evolution and population genetics, genetic epidemiology, computational genomics, molecular methods, functional genomics, pharmacogenetics, reproductive decision making, and bioethics. For more information about our faculty, please see our Faculty page. In addition to Parnassus and Mission Bay, the Institute’s reach now extends to every UCSF campus, the San Francisco VA Medical Center, and UC Berkeley. We are proud of our strong research ties with Lawrence Berkeley National Laboratories and Kaiser Permanente Northern California Division of Research.

Future Directions

Since the early 1970s, the UCSF genetics scene has seen explosive innovation, discovery, and steady progress as we move the field forward. The rise in genomic and analytic technologies made possible by the mountains of genomic data now available guarantees that UCSF genetics researchers will continue to drive developments in human genetics research, education, and patient care as the world embarks upon a new revolution in genetic discoveries.