February 23, 2011
Charles Epstein, Leading Medical Geneticist Injured by Unabomber, Dies at 77
By MARGALIT FOX

Dr. Charles J. Epstein, a prominent medical geneticist who in 1993 was seriously injured in an attack by the Unabomber but was later able to continue his research on Down syndrome and other genetic conditions, died on Feb. 15 at his home in Tiburon, Calif. He was 77.

The cause was pancreatic cancer, said his wife, Lois, a physician and cancer researcher who sometimes collaborated with her husband.

A medical doctor, Dr. Epstein (pronounced EP-styne) was widely credited with helping to make medical genetics — an extremely new field when he began his career — an accredited medical subspecialty. At his death he was emeritus professor of pediatrics at the University of California, San Francisco, where he had taught for more than 40 years.

Dr. Epstein was best known for his work on Down syndrome, a chromosomal condition that affects roughly 1 in 700 newborns. The genetic abnormality that causes Down syndrome — an extra copy of Chromosome 21 — was first identified in 1959 by the French geneticist Jérôme Lejeune.

Dr. Epstein and his associates were interested in learning specifically what it was about having the extra chromosome that resulted in the constellation of anomalies associated with Down syndrome. Besides cognitive impairment, these can include heart and respiratory problems as well as changes in the brain over time that resemble those in patients with Alzheimer’s disease.

In work begun in the 1970s, Dr. Epstein posited that the anomalies were caused by an overabundance of proteins generated by the extra chromosome. His hypothesis was later borne out by his own laboratory research and that of others.

With his wife and their colleague David Cox, Dr. Epstein also created the first model of Down syndrome in mice. By inserting an extra chromosome into mouse embryos (they used mouse Chromosome 16, a portion of which is analogous to human Chromosome 21), they produced a mouse that exhibited many of the characteristics of Down syndrome.

Such mice have furthered close study of the chromosomal roots of Down syndrome. “That was the beauty of trying to make a mouse model, because it’s very difficult to try to figure out these things on live human beings,” Lois Epstein said Tuesday.

Charles Joseph Epstein was born in Philadelphia on Sept. 3, 1933. He earned a bachelor’s degree in chemistry from Harvard in 1955 and a medical degree from Harvard in 1959. He later took up a fellowship in medical genetics at the University of Washington, where he worked with Arno Motulsky, a founder of the field.

Dr. Epstein joined the University of California, San Francisco, in 1967 as the head of the division of medical genetics in the department of pediatrics. There he treated children with genetic conditions in his clinical practice and established a genetic counseling program that became a model for others around the country. In 1997 he was named a director of a new universitywide program in human genetics.

For reasons that have never been entirely clear, Dr. Epstein’s work somehow caught the attention of Theodore J. Kaczynski, the antitechnology ideologue and serial terrorist who came to be known as the Unabomber. In June 1993, a package addressed to Dr. Epstein at his home exploded as he opened it. He sustained hearing loss, damage to his right hand and internal injuries.

Dr. Epstein was one of more than 20 people injured by Mr. Kaczynski — three others were killed — in a series of mail bombings between 1978 and 1995. Apprehended in 1996, Mr. Kaczynski pleaded guilty in 1998 and is serving a life sentence at the federal maximum-security prison in Florence, Colo.

After extensive surgery and rehabilitation, Dr. Epstein was able to resume not only his scientific career but also playing the cello, an art he had pursued passionately since boyhood.

Besides his wife, the former Lois Barth, whom he married in 1956, Dr. Epstein is survived by four children, David, Jonathan, Paul and Joanna Epstein; two brothers, Edwin and Herbert; and six grandchildren.

Dr. Epstein’s other work included research on Alzheimer’s disease and Werner syndrome, which results in premature aging. His many books include “The Consequences of Chromosome Imbalance: Principles, Mechanisms, and Models” and “The Neurobiology of Down Syndrome,” a volume he edited.

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