Michael M. Kaback, M.D. is a geneticist, physician, and 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 Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. A ...

assay method of screening for

Tay–Sachs disease Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord. The most common form is infantile Tay–Sachs disease, which becomes apparent around three to six months of age, with the baby ...

, 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 The National Institutes of Health, commonly referred to as NIH (with each letter pronounced individually), is the primary agency of the United States government responsible for biomedical and public health research. It was founded in the late ...

(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.

References

Selected publications

* Robert J. Desnick and Michael M. Kaback (editors). ''Tay Sachs Disease''. Academic Press, 2001. . * 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. University of California, San Diego faculty American geneticists Living people Year of birth missing (living people) Members of the National Academy of Medicine {{US-academic-scientist-stub

See also

References

Selected publications