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February, 8, 2001

Media Contact: Leslie Franz (619) 543-6163


Professor of Neurosciences discovered Tay-Sachs Gene

UCSD Professor of Neurosciences John S. O’Brien, M.D., internationally known for his discovery of the genetic cause of Tay-Sachs disease and his development of screening tests for the disease, passed away Thursday, February 1, in his La Jolla home. He was 66. Only private family services are planned at this time.

"John was a world-class scientist, an esteemed colleague, a wonderful mentor to his students and a warm, caring individual who will be deeply missed," said Leon Thal, M.D., Chairman of the Department of Neurosciences at the UCSD School of Medicine.

O'Brien was recruited to the UCSD School of Medicine in 1968 after six years as a faculty member at the University of Southern California. He served as department chair from 1970 to 1978.

In 1969, he published the first of several papers describing the genetic basis of Tay-Sachs disease, an inherited crippling disorder which leads to mental retardation, blindness, and death in infancy and early childhood. The disease primarily affects infants of Jewish parents, particularly those of Central and Eastern European ancestry.

O'Brien also developed a test to screen the developing fetus for Tay-Sachs in utero, and for identifying carriers of the recessive gene, in order to better inform couples considering pregnancy of the probability of conceiving a child with the disease. His scientific work and his efforts in support of screening led to the establishment of widespread, coordinated screening, education and counseling programs for high-risk individuals, resulting in a decrease in the number of Tay-Sachs deaths.

"John O'Brien was an early pioneer in the application of knowledge gained in the laboratory to help patients. He built upon his important scientific work to become an advocate for genetic screening and education programs, effectively bridging the gap between basic science and patient care," said UCSD Vice Chancellor for Health Sciences Edward W. Holmes, M.D. "He represented the best that medical scientists have to offer, combining his incredible gift for discovery and his deep compassion for people to actually alleviate pain and suffering, and reduce the incidence of a tragic, incurable disease."

O’Brien was born in Rochester, New York. He attended Loyola University in Los Angeles, then earned his M.S. in physiology and his M.D. at Creighton University in Omaha, Nebraska. In addition to his scientific and scholarly work, he was an accomplished jazz pianist and painter as well as a productive scientist and scholar. His paintings have been shown in galleries and at the UCSD Faculty Club.

His research focus was a family of diseases called "storage" diseases, characterized by the build-up in cells of materials that normally are broken down and metabolized. The resulting toxic accumulation of waste materials in cells prevents normal function and often lead to early death, as seen in diseases such as Tay-Sachs and Gaucher disease.

He is also known for his discovery and sequencing of a family of proteins called "prosapasins," molecules that stimulate regeneration and neuronal survival. Recently, one of these compounds entered clinical trials for diabetes patients with sensory neuropathy.

He was a founder of Myelos Neurosciences Corporation, one of the early "spin-off" companies resulting from technology developed at UCSD, and he was frequently cited as a model for successfully developing ties between the university and industry to expedite the development of treatments for disease, based on basic research findings.

His professional memberships included the Society for Neuroscience, American Society for Neurochemistry, the American Association for the Advancement of Science, and the Federation of American Societies for Experimental Biology. Among the many awards he garnered during his career were the 1995 Supelco Award from the American Oil Chemists’ Society for outstanding original research on fats, oils, lipid chemistry or biochemistry; the Jacob Javits Neurosciences Investigator Award from the National Institutes of Health; the Foster Elting Bennett Lecturer Award given by the American Neurological Association, and the National Foundation of March of Dimes Award for Distinguished Voluntary Leadership in the Fight Against Birth Defects. He received the UCSD Chancellor’s Associates Merit Award for Excellence in Research, and a Distinguished Alumni Award from Loyola University.

He is survived by his wife Susan; his mother, Esther, of San Pedro; his sister Linda and her husband Peter O’Brien-Rothe, also of San Pedro; six children, John E. and his wife Janet, Lakenheath AFB, U.K.; Maggie and her husband Jack Mathers, Seattle; Kathleen and her husband Chris Alex, San Pedro; and Bridget and her husband Douglas Youngdale; Michael and his wife Terri, and Patrick and his wife Lisa, all of San Diego; and 20 grandchildren.

The family requests that donations be sent in lieu of flowers to support the UCSD Graduate Program in Neurosciences. Checks should be made out to the UCSD Foundation and sent to: Leon J. Thal, MD, 9500 Gilman Drive, La Jolla, CA 92093-0624.

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