This application requests funds for a Clinical Genetics Research Center (CGRC) to be established at the University of Wisconsin Medical School. The CGRC is being planned in order; 1. to collect, store, retrieve and analyze phenotypic, genealogic, and epidemiologic data on genetic diseases to speed the identification of previously undescribed genetic disorders and to establish their phenotypic spectrum and natural history; 2. to perform collaborative research on accumulated epidemiological, twin, linkage and other data, and on the phenotypic, cytogenetic, immunogenetic, and biochemical aspects of congenital and chronic disease to define the genetic cause and pathogenetic mechanisms underlying human genetic disorders, and to improve means of pre and post-natal detection, treatment and prevention of such conditions; and 3. to teach in this clinical research setting basic and medical genetics to medical and graduate students, house-officers, postdoctoral fellows and practicing physicians. Areas of special competence in this collaborative effort include clinical genetics and cytogenetics, mental retardataion, malformation syndromes, intersexuality, the connective tissue dysplasias, amniocentesis, ophthalmology, erythrocyte and coagulation defects, neurologic disorders (esp. epilepsy, the XYY syndrome, color vision defects), immunogenetics, serum lipoprotein genetics and atherosclerosis research, the molecular biology of cystic fibrosis, and cytogenetics. To implement these objectives we will establish new, and coordinate and improve existing facilities dealing with the diagnosis and detection of genetic disease in order to make better genetic counseling more efficiently available to a greater number of families in the Wisconsin region (Wisconsin, portions of northern Illinois, upper Michigan eastern Iowa and southeastern Minnesota).
NIH ExPorter
NIH ExPorter