Edward R.B. McCabe, M.D., Ph.D., is Professor and Executive Chair of the UCLA Department of Pediatrics, and Physician-in-Chief of the Mattel Children’s Hospital at UCLA. He directs the Pediatric Research, Innovation and Mentoring Experience (PRIME) Program, the UCLA Child Health Research Career Development Award, the Human and Molecular Development Postdoctoral Training Program and the UCLA Center for Society, the Individual and Genetics.
A pediatrician and geneticist, Dr. McCabe began his research career at the age of 15 in the Pediatric Research Laboratory at the University of Maryland School of Medicine. He received his B.A. from The Johns Hopkins University (1967), and his Ph.D. (1972) and M.D. (1974) from the University of Southern California. He completed his Pediatrics Residency at the University of Minnesota (1974-1976). At the University of Colorado Health Sciences Center, he was a Pediatric Metabolism Fellow (1976-1978) and then Assistant and Associate Professor of Pediatrics, and Biochemistry, Biophysics and Genetics. In 1986 he moved to Baylor College of Medicine as Associate Professor then Professor and Director of the Robert J. Kleberg Jr. Clinical Center in the Institute for Molecular Genetics. He established the Baylor Mental Retardation Research Center, the Baylor Molecular Genetics Diagnostic Laboratory Postdoctoral Training Program and the Baylor Child Health Research Center.
Dr. McCabe is a member of a number of honorary societies including Sigma Xi, Phi Kappa Phi, and Alpha Omega Alpha. He was elected to the Institute of Medicine in 2001. He was elected a Fellow of the American Association for the Advancement of Science in 2003. He served as a member of the Health and Human Services Select Panel on Newborn Screening for the Maternal and Child Health Bureau (1987-2000). He chaired the Committee on Genetics of the American Academy of Pediatrics (1987-1991). In 1990, he co-founded the Section on Genetics of the American Academy of Pediatrics and served as Chair (1993-1995) of the Executive Committee. He chaired the Scientific Advisory Committee on Neural Tube Defects of the Texas Department of Health (1992-1994). He was a Member of the Medical Genetics Residency Review Committee for the Accreditation Council for Graduate Medical Education (1993-1997). He was President of the American Board of Medical Genetics (1995-1996). He chaired the Basil O’Connor Award Committee for the March of Dimes and Birth Defects Foundation. He was a Member of the National Advisory Child Health and Human Development Council of the National Institutes of Health (1995-1999). He was a Member of the Committee on Certification, Subcertification and Recertification (COCERT) of the American Board of Medical Specialties (1996-2000). He was Co-Chair of the May 1999 Newborn Screening Task Force sponsored by the American Academy of Pediatrics and the Maternal and Child Health Bureau. He was a Member of the Human Cloning Panel, Committee on Science, Engineering and Public Policy, National Academy of Sciences (2001-2002). He was the Chair of the Secretary’s Advisory Committee on Genetic Testing (1998-2002). He was President (2001-2002) of the American College of Medical Genetics and President of the Western Society for Pediatric Research (2002). He serves as a Member of the American Pediatric Society Council (2002-2007) and the Chair of the Secretary’s Advisory Committee on Genetics, Health and Society (2002-Present).
Dr. McCabe identified the first patients with Glycerol Kinase Deficiency, part of a contiguous gene syndrome with Adrenal Hypoplasia Congenita and Duchenne Muscular Dystrophy. He cloned the genes for Glycerol Kinase Deficiency and Adrenal Hypoplasia Congenita, and continues to study their structure-function relationships. He was the first to show that DNA could be extracted from newborn screening blotters. This discovery is the basis for the use of blotters for molecular genetic diagnosis, forensics (including the DNA dog tag) and infectious disease diagnosis. He developed molecular genetic strategies for the confirmatory diagnosis in newborn screening programs for Sickle Cell Disease, Cystic Fibrosis and Medium Chain Acyl-CoA Dehydrogenase Deficiency. He established the first DNA follow-up laboratory for newborn screening for Sickle Cell Disease, and trained personnel from newborn screening programs in Puerto Rico, Texas, and Washington, and from the molecular genetic confirmatory testing in the Centers for Disease Control. He has also been involved in molecular genetic testing for microbiologic organisms, with the goal of decreasing the time for identification of infectious agents.