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HUMAN GENETICS: ARE WE
BORN WITH THE DISEASES |
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According to James Watson, patrons of the Eagle Pub in Cambridge were among the first to learn of his and Francis Crick's discovery of DNA's double helix structure when Crick announced to all who could hear, "We have discovered the secret of life!" Crick's boast was not idle. The duo had uncovered the structure of the basic building blocks of life; but it took ten more years to unravel the biological code that makes up DNA, which carries the information that comprises a gene. Only now, nearly five decades later, are scientists on the verge of delineating the complete set of instructions for "making" a human being. The effort to develop the master blueprint for all the DNA and the 80,000 to 100,000 genes in a human is called the Human Genome Project. Since it began in 1990, researchers have discovered that DNA is riddled with variations. We all inherit hundreds of genetic mutations from our parents, and each of us may undergo 30 new mutations during our lifetime during the process of DNA copying and cell division or, more often, through environmental factors. Most of these variations-such as deleted, inserted, broken, or substituted DNA-are harmless and sometimes even beneficial; but when the error in DNA alters a message that tells certain cells to manufacture a specific protein…well… there's trouble in River City. To stay alive and to function properly, the human body requires about 50,000 different proteins to be produced in the right quantities, at the right time, and in the right place. These proteins perform countless functions, from producing hemoglobin that carries oxygen through the bloodstream to generating the neurotransmitters that evoke our move-ments, emotions, and thoughts. The completed "Atlas" of the human genome will lead to new approaches for diagnosing, treating, and even preventing many disorders and diseases. Already, researchers have identified single genes associated with diseases like cystic fibrosis and Duchenne muscular dystrophy; and they are on the verge of uncovering the mechanisms for other diseases-like cancer and heart disease-that may be caused by combinations of genes or genes interacting with environmental factors. The road from gene identification to effective treatments is long and fraught with challenges. Tonight, mini-med students will learn about some of these challenges and the possible impact of genetics on public health. Students will also get a glimpse into the future potential of a new generation of therapeutics, including the promise of gene therapy to revolutionize medicine. |
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William S. McEllroy Professor and Chairman of Molecular Genetics and Biochemistry
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Dr. Glorioso is internationally known in the field of herpesvirus genetics and herpes simplex virus (HSV) vector development for human gene therapy applications. His research includes studies of the function and immunology of the HSV-1 type glycoproteins; the molecular biology of latency in neurons; and the application of HSV mutant gene vectors for treating animal models of neurodegenerative disease, autoimmune conditions, and cancer. Dr. Glorioso received his Ph.D. in microbiology in 1974 from Louisiana State University and was a postdoctoral fellow in virology at the Louisiana State Medical Center. He came to Pittsburgh in 1989 from the University of Michigan Medical School Department of Microbiology. He has served on the National Institutes of Health (NIH) Recombinant DNA Committee for approval of human gene therapy protocols. He is currently a member of the National Gene Vector Laboratory Steering Committee; director of the Pittsburgh Medical Center for Human Gene Therapy; U.S. editor and founder of the American Journal of Gene Therapy; and treasurer, board member, and co-founder of the American Society of Gene Therapy. Dr. Glorioso is also founder and consultant to GenVec, a privately held gene therapy biotech company. He was named 1996 Pittsburgh Man of the Year in Technology. |
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Interim Chairman of Human Genetics (GSPH) and Assistant Professor of Ophthalmology
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Dr. Gorin's major areas of basic and clinical research are in the field of ophthalmic molecular genetics, with an emphasis on hereditary retinal disorders. His primary focus is on the molecular genetics of age-related maculopathy (ARM), the leading cause of untreatable blindness in the elderly. Using both clinical and cytogenetic methods, Dr. Gorin and colleagues have also investigated the effects of the Chernobyl nuclear accident on the eyes of children. He has conducted a multicenter study to assess the potential ocular toxicity of tamoxifen, demonstrating that the drug is relatively safe with regard to the retina and that tamoxifen can contribute to the development of cataracts in humans. Dr. Gorin received his B.A. (magna cum laude) from Pomona College and his M.D. and Ph.D. from the University of Pennsylvania. He was a postdoctoral fellow at the Jules Stein Eye Institute at the University of California, Los Angeles, and a fellow in medical retina and genetics at Moorfields Eye Hospital in London. Before joining the University of Pittsburgh School of Medicine, he was a medical officer in the Section on Ophthalmic Genetics and Pediatric Ophthalmology at the National Eye Institute of the National Institutes of Health. Dr. Gorin has received numerous honors and awards, including the Henry and Lillian Nesburn Prize for Research from the Los Angeles Ophthalmology Society. |
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Wendy S. Rubinstein, M.D., Ph.D. Assistant Professor of Medicine, Human Genetics, and Obstetrics-Gynecology & Reproductive Sciences
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Dr. Rubinstein is director of the University of Pittsburgh Cancer Institute's Cancer Genetics Program at Magee-Womens Hospital and serves as the Comprehensive Breast Cancer Program's medical geneticist. Board-certified in internal medicine, clinical genetics, and clinical molecular genetics, Dr. Rubinstein has broad clinical, laboratory, and teaching experience in cancer genetics. Her research projects have included "Genetic Education and Services for Western Pennsylvania Jews," "Breast MRI for Early Detection of Breast Cancer in High-Risk Women," "Mapping Interactive Cancer Susceptibility Loci," and "Stress, Mental Health, and Genetic Risk Identification." Dr. Rubinstein earned her B.A. (magna cum laude) in biochemistry from Brandeis University, a master's in biomedical sciences and a Ph.D. from the City University of New York, and her M.D. from the Mt. Sinai School of Medicine. Before joining the University of Pittsburgh in 1994, Dr. Rubinstein was an instructor in medicine and genetics at the University of Rochester, where she developed and taught a seminar on the ethical, legal, and social issues in medical genetics. |
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Human Genome Project Information - A suite of web sites funded by the U.S. Department of Energy focusing on the Human Genome Project. http://www.ornl.gov/TechResources/Human_Genome/home.html Natural History of Genes - This site is designed to provide teachers with genetic science activities to illustrate how DNA, genes, and chromosomes relate to disease, conservation, forensics, and more. http://raven.umnh.utah.edu/ Primer on Molecular Genetics - This Department of Energy site offers a step-by-step description of genetics and the Human Genome Project, from introductory explanations of DNA, genes, and chromosomes to mapping and sequencing the human genome to the impact of the Human Genome Project. http://www.bis.med.jhmi.edu/Dan/DOE/intro.html Public Health Genetics - This web site provides news and information about advances in genetics and their impact on public health and the prevention of disease. http://www.medinfo.cam.ac.uk/phgu/ |
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Altered Fates: Gene Therapy and the Retooling of Human Life. Jeff Lyon and Peter Gorner. (W. W. Norton & Co, 1996) Human Genetics: Problems and Approaches. F. Vogel. (Springer Verlag, 1997) Human Molecular Genetics. Andrew P. Read and Tom Strachan. (John Wiley & Sons, 1997) "The Invention of the Genetic Code." Brian Hayes. Scientific American, January-February 1998 Mendel's Dwarf. Simon Mawer. (Penguin, 1999) (This critically acclaimed novel has a "gene theme" and is definitely a provocative read.) |
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