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.
Media Contact: Leslie Franz
619-543-6163 lfranz@ucsd.edu
UCSD Health Sciences Communications Healthbeat