Michael Kaback
Encyclopedia
Michael M. Kaback, M.D. is a Professor of Pediatrics and Reproductive Medicine, and chief of the Division of Medical Genetics, at the University of California-San Diego.
He is best known for his role in the discovery and development of an enzyme
assay method of screening for Tay-Sachs disease
, a rare and fatal genetic disorder. This test allowed for cost-effective screening of large populations, the first such test in medical genetics. Because no large scale genetic screening had ever been done before, Kaback became involved in public health aspects of screening, including the education of target populations and genetic counseling. Although no cure for Tay-Sachs disease has been found, antenatal genetic screening has virtually eliminated the disease in the Ashkenazi Jewish
population in both the United States and Israel.
In 1979, Kaback served on the first National Institutes of Health
(NIH) panel to recommend antenatal diagnosis in cases where a couple might be at risk for conceiving a child with a hereditary disease or congenital defect. The panel brought together physicians, scientists, consumers, and others in order to develop a consensus statement for use by health care providers. In the NIH Consensus Development Program, panel members are selected for their expertise to serve as judges of evidence, and must have no prior conflicts of interest. Panel members addressed issues concerning the relative risks and benefits of genetic screening, including the costs and risks of the screening procedures themselves. It was the first NIH panel to provide recommendations for genetic screening, and its findings have since been revised many times.
Kaback's brother, H. Ronald Kaback, UCLA, pioneered purification of intact E. coli membranes and used them in assays to measure chemiosmotic potential in membranes, an important contribution to Peter Mitchell's theory. Since then Kaback has gone on to purify and characterize lactose permease, the enzyme responsible for lactose transport across E. coli membranes.
Perspectives in Biology and Medicine Vol 44:2. Johns Hopkins University Press. pp. 230–234.
He is best known for his role in the discovery and development of an enzyme
Enzyme
Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...
assay method of screening for Tay-Sachs disease
Tay-Sachs disease
Tay–Sachs disease is an autosomal recessive genetic disorder...
, a rare and fatal genetic disorder. This test allowed for cost-effective screening of large populations, the first such test in medical genetics. Because no large scale genetic screening had ever been done before, Kaback became involved in public health aspects of screening, including the education of target populations and genetic counseling. Although no cure for Tay-Sachs disease has been found, antenatal genetic screening has virtually eliminated the disease in the Ashkenazi Jewish
Ashkenazi Jews
Ashkenazi Jews, also known as Ashkenazic Jews or Ashkenazim , are the Jews descended from the medieval Jewish communities along the Rhine in Germany from Alsace in the south to the Rhineland in the north. Ashkenaz is the medieval Hebrew name for this region and thus for Germany...
population in both the United States and Israel.
In 1979, Kaback served on the first National Institutes of Health
National Institutes of Health
The National Institutes of Health are an agency of the United States Department of Health and Human Services and are the primary agency of the United States government responsible for biomedical and health-related research. Its science and engineering counterpart is the National Science Foundation...
(NIH) panel to recommend antenatal diagnosis in cases where a couple might be at risk for conceiving a child with a hereditary disease or congenital defect. The panel brought together physicians, scientists, consumers, and others in order to develop a consensus statement for use by health care providers. In the NIH Consensus Development Program, panel members are selected for their expertise to serve as judges of evidence, and must have no prior conflicts of interest. Panel members addressed issues concerning the relative risks and benefits of genetic screening, including the costs and risks of the screening procedures themselves. It was the first NIH panel to provide recommendations for genetic screening, and its findings have since been revised many times.
Kaback's brother, H. Ronald Kaback, UCLA, pioneered purification of intact E. coli membranes and used them in assays to measure chemiosmotic potential in membranes, an important contribution to Peter Mitchell's theory. Since then Kaback has gone on to purify and characterize lactose permease, the enzyme responsible for lactose transport across E. coli membranes.
Selected publications
- Robert J. DesnickRobert J. DesnickRobert J. Desnick, Ph.D., M.D., is a human geneticist whose research accomplishments include significant developments in disease gene discovery, inherited metabolic diseases, and the treatment of genetic diseases, including the development of enzyme replacement therapy for Fabry disease.Desnick is...
and Michael M. Kaback (editors). Tay Sachs Disease. Academic Press, 2001. ISBN 0120176440.
- Kaback, Michael M. (2001). "The 'Asilomar Process' and the Human Genome Project"
Perspectives in Biology and Medicine Vol 44:2. Johns Hopkins University Press. pp. 230–234.
- Kaback, Michael M. (1993) et al. "Tay Sachs Disease — Carrier Screening, Prenatal Diagnosis, and the Molecular Era: An International Perspective, 1970 to 1993." Journal of the American Medical Association Vol 270:19 pp. 2307–2315.