主页 > 医药生命 >
【科普】Down syndrome研究的开拓者Charles J. Epstein教
By MARGALIT FOX
Published: February 23, 2011
Charles Epstein, Leading Medical Geneticist Injured by Unabomber, Dies at 77","description":"Dr. Charles J. Epstein, best known for his work on Down syndrome, was seriously injured in a 1993 mail bomb attack by Theodore J. Kaczynski, the Unabomber.","keywords":"Genetics and Heredity, Down Syndrome,Deaths (Obituaries),Research,Science and Technology,Epstein Charles J,Kaczynski Theodore J,University of California San
}
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.
[url=javascript:pop_me_up2('http://www.nytimes.com/imagepages/2011/02/24/EPSTEIN-obit.html','EPSTEIN_obit_html','width=416,height=630,scrollbars=yes,toolbars=no,resizable=yes')]Enlarge This Image[/url][url=javascript:pop_me_up2('http://www.nytimes.com/imagepages/2011/02/24/EPSTEIN-obit.html','EPSTEIN_obit_html','width=416,height=630,scrollbars=yes,toolbars=no,resizable=yes')] [/url]
National Down Syndrome Society
Dr. Charles J. Epstein
Related
Health Guide: Down Syndrome
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 Jér?me 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
阅读本文的人还阅读：
作者:admin@医学,生命科学 2011-02-28 00:59
医学,生命科学网