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Article
June 19, 1996

Medical Genetics

Author Affiliations

University of California—Los Angeles School of Medicine

JAMA. 1996;275(23):1819-1821. doi:10.1001/jama.1996.03530470047028
Abstract

Three areas of genetics that remain active include gene identification, disease susceptibility, and gene therapy. Examples of the power of the genetic approach to identify genes without prior knowledge of the function of the gene products are the genes for ataxiatelangiectasia (AT), the infantile subtype of neuronal ceroid lipofuscinosis (NCL), and autosomal dominant polycystic kidney disease. Knowledge of the roles of specific gene products in fundamental developmental biological processes of model organisms also has permitted the identification of mutant genes in human disorders and improved the understanding of syndromic birth defects. Examples of mutant genes that predispose to cancer, in addition to the AT gene, are the breast cancer genes, BRCA1, and the newly cloned BRCA2 gene, which are responsible for many of the familial breast cancers. Finally, gene therapy remains an area of great, but unfulfilled, promise, leading to expressions of concern about gene therapy from 2 panels sponsored

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