EDWARD R. B. MCCABE, M.D., Ph.D.

Physician In Chief of Mattel Children's Hospital at
UCLA, Chair of UCLA Department of Pediatrics

Dr. McCabe is an Advisory Board Member of Rx Laughter

Dr. McCabe began his research career at the age of 15 in the laboratory of Samuel P. Bessman, M.D., in the Pediatric Research Laboratory at the University of Maryland School of Medicine. He received his B.A. with Honors in Biology from The Johns Hopkins University in 1967. As part of his M.D./Ph.D. Program, he earned his Ph.D. in Pharmacology from the University of Southern California in 1972 where he was inducted into both Sigma Xi and Phi Kappa Phi.

In 1974, Dr. McCabe was granted an M.D. from the University of Southern California where he was elected to Alpha Omega Alpha. He completed his Pediatrics Residency at the University of Minnesota Hospitals in 1976. Dr. McCabe served as a Pediatric Metabolism Fellow at the University of Colorado Health Sciences Center from 1976 until 1978. He remained at Colorado as a faculty member in the Department of Pediatrics and the Department of Biochemistry, Biophysics and Genetics. He became Director of the Metabolic Diseases Clinic in 1977 and developed it into a national resource serving 10 states in the Rocky Mountain area. As a Fellow, he discovered Glycerol Kinase Deficiency (GKD). He characterized the biochemistry of this disorder and was the first to recognize GKD as part of a contiguous gene syndrome, Complex Glycerol Kinase Deficiency, including GKD, along with Duchenne Muscular Dystrophy, and/or Adrenal Hypoplasia Congenita (AHC). 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.

In 1986, Dr. McCabe left Colorado to direct the Robert J. Kleberg, Jr. Clinical Center in the Institute for Molecular Genetics at Baylor College of Medicine. Under his leadership the clinical service became internationally renowned for prenatal genetics, clinical genetics and biochemical genetics. In addition to outpatient clinics, inpatient services were provided to seven hospitals. Dr. McCabe 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 cloned the genes for GKD and AHC. 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.

Dr. McCabe established the first DNA follow-up laboratory for newborn screening for Sickle Cell Disease, and was able to reduce the age at confirmed diagnosis from four months of age to two months of age. Since penicillin prophylaxis for Sickle Cell Disease should begin no later than four months of age, this permitted affected infants to receive penicillin in time to prevent life-threatening infection. After training in the McCabe lab, individuals adapted these procedures for newborn screening programs in Texas, Washington, and the Centers for Disease Control. Using similar technology,

Dr. McCabe developed a strategy for the rapid molecular genetic diagnosis of bacteremia with the eventual goal of using this approach to rule out sepsis in young children.

In 1994, Dr. McCabe left Baylor to become the Executive Chair of the Department of Pediatrics at UCLA. The Department has 130 faculty members and an international reputation for tertiary/quartinary care and the development of high technology approaches to medical care for children, moving discoveries rapidly from the bench to the bedside.

In 1995, Dr. McCabe established the UCLA Children’s Hospital and serves as the Physician-in-Chief. With Mattel’s pledge of $25,000,000 in 1998 toward the building of the new hospital, the name has been changed to the Mattel Children’s Hospital at UCLA. Under Dr. McCabe’s leadership, the housestaff training program has developed an even stronger national reputation, competing with other training programs from around the country for the best medical students interested in primary care pediatrics and those wishing to pursue subspecialty training and academic pediatrics. In 1994, he established and continues to direct the Pediatric Research, Innovation and Mentoring Experience (PRIME) Program. The PRIME Program encourages Human and Molecular Development research through a core laboratory and individual awards to junior faculty members. The PRIME Program served as the basis for Dr. McCabe’s successful applications to NICHD for the UCLA Child Health Research Center (CHRC; 1996), and the Human and Molecular Development Postdoctoral Training Program (1998). PRIME and CHRC awardees currently have received $5.6 million in research grants. The entire UCLA Department of Pediatrics holds $24 million in research grants and contracts.

Dr. McCabe and Elizabeth Neufeld, Ph.D. served as Interim
Co-Directors of the Human Genetics Program (1995-1997), establishing the basis of the new UCLA Department of Human Genetics. Dr. McCabe described a new syndrome (IMAGE), and continues to study the structure and function of the GKD and AHC genes, and to search for other genes that may be involved in the Xp21.3 contiguous gene syndrome. He advanced molecular genetic characterization of bacteremia to include speciation for samples identified as bacterial.

Dr. McCabe is an internationally recognized authority in medical genetics and biochemical genetics. He chaired the Committee on Genetics, and co-founded the Section on Genetics and chaired the Executive Committee for the Section for the American Academy of Pediatrics. He was elected to, and served as President of, the American Board of Medical Genetics. He was a member of the first Medical Genetics Residency Review Committee. He chaired the NIH Technical Assessment Conference on Gaucher Disease. He was voted President-Elect (1999-2000), President (2001-2002), and Past President (2003-2004) of the American College of Medical Genetics. He was selected to Chair the Health and Human Services Secretary Donna Shalala’s Advisory Committee on Genetic Testing (1999-2001).

Dr. McCabe is board certified in Pediatrics, Clinical Genetics and Biochemical Genetics, and an active candidate in Clinical Molecular Genetics. Dr. McCabe’s research expertise has been recognized by more than $15 million in grant support. He chaired the Mental Retardation Research Committee for NICHD.

Dr. McCabe is a member of the National Advisory Child Health and Human Development Council at NIH. He chairs the Basil O’Connor Award Committee for the March of Dimes Birth Defects Foundation. He is a member of the Program Committee for the American Society of Human Genetics. He is a member of the Selection Committee for the Pediatric Scientist Development Program. He is the Editor-in-Chief of the Academic Press journal, Molecular Genetics and Metabolism. At UCLA, Dr. McCabe is a member of the Brain Research Institute, the Mental Retardation Research Center, and the Molecular Biology Institute. He is a member of the American Federation for Clinical Research, American Pediatric Society, American Society for Biochemistry and Molecular Biology, Endocrine Society, Perinatal Research Society, and Society for Pediatric Research.

Dr. McCabe’s leadership skills have been recognized by his membership on the Committee on Certification, Subcertification, and Recertification of the American Board of Medical Specialties. He was a member of the Executive Committee of the American Association of Medical School Pediatric Department Chairs, and chaired their Frontiers in Science Program. He is the American Pediatric Society Representative to the Council on Pediatric Education (COPE) sponsored by the American Academy of Pediatrics. In appreciation for the opportunity to begin bench research at 15 years of age, Dr. McCabe is committed to mentoring. Former trainees in his laboratory are on the faculty at Texas Southern University and the following medical schools: Baylor, Mt. Sinai, University of Alabama, UCLA, UCSF, University of Leipzig, and University of Nevada Las Vegas.

In 1988, he established the Baylor Laboratory Training Program. This provided molecular genetic laboratory training for postdoctoral fellows and an annual course (1988-1994) on molecular diagnosis of genetic disease attended by 100 physicians, laboratory directors, public health administrators, genetic counselors, and other participants from around the country. Dr. McCabe was awarded and directed one of the first Child Health Research Centers (CHRCs) in 1990 at Baylor. The Baylor CHRC provided research grants and core laboratory support for junior faculty researchers.

In 1992, Dr. McCabe developed Academic Pediatrics, a group mentoring experience for fellows and junior faculty to facilitate preparation of grants, abstracts and presentations at scientific meetings, and manuscripts. This experience has been offered for five years, two years at Baylor and four years at UCLA. Dr. McCabe is co-authoring a book based on this course, How to Succeed in Academics.

Dr. McCabe is proud to serve as an Advisory Board member of
Rx Laughter, a national nonprofit organization at the Mattel Children's Hospital at UCLA dedicated to researching and implementing the usage of comedy programming into medical treatments, for improved emotional and physical health for seriously ill children and adolescents and as a coping resource for their families.

At UCLA, Dr. McCabe established the PRIME Program to support Human and Molecular Development research. The junior faculty research awards and core laboratory served as a basis for his successful application for the UCLA Child Health Research Center in 1996. In 1997, he developed REACHOUT, a volunteer opportunity for high school students to participant in research and/or patient support activities within the UCLA Department of Pediatrics. In 1997, he developed a Leadership Workshop at UCLA for fellows and faculty members to consider qualities of leaders such as vision, creativity, and integrity. In 1998, he was awarded the NICHD Human and Molecular Development Training Program to train M.D. or M.D./Ph.D. fellows in any subspecialty in basic molecular biology research.

Awards recognizing Dr. McCabe’s extraordinary contributions include the E. Mead Johnson Award from the Society for Pediatric Research. The University of Colorado Health Sciences Center presented him with their second Harry Gordon Alumni Award for Outstanding Achievement in Academic Medicine. He has presented named lectureships at Cedars-Sinai Medical Center in Los Angeles, the Oregon Health Sciences University, the Perinatal Research Society Meeting in Cape Cod, St. Mary’s Hospital in Richmond, the University of California at Irvine, the University of Manitoba, the University of Rochester, and the University of Wisconsin.

He has been invited to speak in Australia, Canada, China, Finland, France, Germany, Italy, Japan, The Netherlands, and Switzerland.

In the United States, Dr. McCabe has been an invited lecturer in Washington D.C.., Alabama, California, Colorado, Connecticut, Florida, Georgia, Hawaii, Illinois, Kansas, Kentucky, Louisiana, Maryland, Massachusetts, Michigan, Minnesota, New York, North Carolina, Ohio, Oregon, Pennsylvania, Rhode Island, South Carolina, Tennessee, Texas, Virginia, Washington, and Wisconsin.

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