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overview In addition to research related to specific genetic diseases, such as Krabbe disease and Niemann-Pick type C, Dr. Wenger directs the largest lysosomal storage diseases (LSD) testing laboratory in the world. LSD are a group of genetic disorders cause by mutations in genes that code for proteins required for the lysosomal catabolism of naturally occurring carbohydrates, proteins, and lipids. About 35 such disorders have been defined and over 20 are diagnosed in this laboratory. Samples are sent to this laboratory from around the world for help in diagnosing a patient with certain symptoms, for carrier testing and for prenatal testing. Most diagnostic tests are enzyme-based but others require the use of specific antibodies, tissue extraction, radio-labelled lipid loading or molecular analysis for known mutations. The experience of the research laboratory is brought to diagnostic laboratory in the form of new test development, and interesting patients can be studied in the research laboratory to help answer important questions regarding protein structure and function. ACADEMIC APPOINTMENTS (1997-present): Jefferson Medical College, Philadelphia, PA. September 1986 - November 1998, Professor of Medicine (Medical Genetics), and Biochemistry and Molecular Pharmacology Director, Lysosomal Diseases Testing Laboratory. 1974-present OTHER ACTIVITIES (1997-present) Scientific Advisory Committee of the National Tay-Sachs and Allied Diseases Association Advisor - United Leukodystrophy Foundation, Inc. Editorial Board of Molecular Genetics and Metabolism (1991-present) Scientific Advisory Board of the National Mucopolysaccharidosis Society Scientific/Medical Advisory Committee of the Canavan Disease Foundation Program Committee-American Society of Human Genetics (1994-1997) NIH Board of Scientific Counselors; review of Intramural Research Programs at NIH, October 1997 Working Group of NIGMS Human Genetic Cell Repository, 2001-2004
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  • Genetic Diseases Inborn