Background
Epstein, Charles Joseph was born on September 3, 1933 in Philadelphia, Pennsylvania, United States. Son of Jacob C. and Frieda (Savransky) Epstein.
(This book considers in detail the mechanisms of a major h...)
This book considers in detail the mechanisms of a major human problem. Chromosome imbalance affects all stages of life in ways ranging from spontaneous abortion and retardation to behavioural problems and malignancy. Charles J. Epstein concerns himself with how and why a particular chromosome imbalance produces a specific phenotype. His fundamental goal is to connect chromosome aberrations with functional abnormalities in terms of gene expression, developmental and cell biology, and metabolism. Through his examination of this relationship, we learn more about normal development and function. The book begins with an exploration of several human autosomal aneuploid phenotypes, with particular emphasis on the relationship between genotype and phenotype. In the next part, broad theoretical considerations of the mechanisms which generate these phenotypes are examined with reference to studies on man and other organisms such as bacteria and mice. Experimental approaches to study the effects of aneuploidy are presented next with special attention paid to the development of model systems for studying human aneuploidy.
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(Honored by the Association of American Publishers as the ...)
Honored by the Association of American Publishers as the Best Medical Book of 2004, Inborn Errors is the definitive work on genetically caused abnormalities of human development. Despite the explosion in genetic advances, the causes of two-thirds of all birth defects remain unknown. However, we are on the brink of a revolution in this area, and Inborn Errors is at the forefront. It is the first book to connect the disease-causing gene to its biochemical pathway and to the structural/functional disorder. Mutations of the gene, the clinical picture, genetic counseling and prognosis, and any known treatments are discussed. For medical geneticists, genetic counselors, pediatricians, and developmental biologists, the book is a unique and groundbreaking reference.
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medical geneticist physician biochemistry educator
Epstein, Charles Joseph was born on September 3, 1933 in Philadelphia, Pennsylvania, United States. Son of Jacob C. and Frieda (Savransky) Epstein.
Bachelor of Arts, Harvard University, 1955; Doctor of Medicine Harvard University, 1959; Doctor of Science, Northeastern Ohio U., 1997.
Intern in medicine Peter Bent Brigham Hospital, Boston, 1959-1960, assistant resident in medicine, 1960-1961. Research associate, medical officer and section chief National Heart Institute and National Institute Arthritis and Metabolic Diseases, National Institutes of Health, Bethesda, Maryland, 1961-1967. Research fellow in medical genetics University Washington, 1963-1964.
Associate professor pediatrics and biochemistry University California, San Francisco, 1967-1972, professor, 1972—2005, professor emeritus, since 2005, chief division medical genetics. department pediatrics San Francisco, 1967—2007, co-director program in human genetics, 1997—2004. Investigator Howard Hughes Medical Institute, 1976-1981. Member human embryology and development study section National Institutes of Health, 1971-1975.
Member mental retardation research committee National Institute Child Health and Development, 1979-1983, chairman, 1981-1983. Member committee for study inborn errors of metabolism National Research Council, 1972-1975. Member science advisory board National Down Syndrome Society, 1981-1999, chairman, 1984-1999, member national advisory board, 1999-2006, honorary board governors, since 2007, also board directors.
Member recombinant DNA advisory committee National Institutes of Health, 1985-1990, member human gene therapy subcommittee, 1987-1991, chairman residency review committee medical genetics, 1993-1999. Member science advisory board Buck Institute, since 2002, chairman, since 2004, trustee, since 2004, vice chairman, board trustee, since 2009. Member science steering committee, Pediatric Biobank, 2006-2007.
Stanley Wright Memorial lecturer Western Society Pediatric Research, 1986. William Potter lecturer Thomas Jefferson University, 1987. George H. Fetterman lecturer University Pittsburgh, 1989.
Faculty research lecturer University California, San Francisco, 1994. Mary Hulings Edens lecturer University Texas Medical Branch, Galveston, 1996. Ida Cordelia Beam lecturer University Iowa, 1998.
Donald L. Thurston memorial lecturer Washington University, St. Louis, 1999, others.
(Honored by the Association of American Publishers as the ...)
(This book considers in detail the mechanisms of a major h...)
Served with United States Public Health Service, 1961-1963. Fellow American Association for the Advancement of Science, American Academy Arts and Sciences. Member American Medical Association, American Board Medical Genetics (board director 1988-1993, vice president 1989, president 1990-1991), Genetics Society of America, American Federation Clinical Research, American Society Human Genetics (board director 1972-1975, 87-93, 97-98, president-elect 1995, president 1996), American Society Biochemistry and Molecular Biology, Society Pediatric Research (council 1972-1975), American College Medical Genetics (president-elect 2001-2002, president 2003-2005, past president, 2005-2007), Western Society Clinical Investigation, Western Society Pediatric Research, American Society Clinical Investigation, American Society Cell Biology, Society Development Biology, American Pediatric Society, Western Association Physicians (council 1993-1995), Association American Physicians, Society Inherited Metabolic Disorders, Institute Medicine of National Academy of Sciences, California Academy Medicine (executive committee since 2002, vice president 2004-2005, president 2006-2007), Phi Beta Kappa, Alpha Omega Alpha.
Married Lois Barth, June 10, 1956. Children: David Alexander, Jonathan Akiba, Paul Michael, Joanna Marguerite.