Dr. Edward McCabe has been elected president of the American Society of Human Genetics (ASHG). McCabe is physician-in-chief of Mattel Children's Hospital UCLA and Mattel Endowed Executive Chair of the Department of Pediatrics at the David Geffen School of Medicine at UCLA. A professor of pediatrics, human genetics and bioengineering, he also founded and co-directs the UCLA Center for Society and Genetics.
His term with ASHG will include serving as president-elect in 2008 and president in 2009, followed by two years on the board of directors. During McCabe's presidency, he will emphasize international research collaboration in the area of systems biology.
He is one of only a few geneticists to serve as president of all three arms of professional genetics: board certification (American Board of Medical Genetics); education and policy (American College of Medical Genetics); and research (American Society of Human Genetics).
McCabe began working in the pediatric research laboratory at the University of Maryland's School of Medicine at age 15. He discovered a group of disorders called complex glycerol kinase deficiency and described their clinical, biochemical and genetic traits. He applies a systems biology approach to illuminate why individuals with the same genetic mutation show different symptoms.
He was the first to demonstrate that DNA could be extracted from dried blood samples used to screen newborns for various genetic diseases. His discovery provided the basis for the use of these specimens for molecular genetic diagnosis, forensics and infectious disease diagnosis.
He developed molecular genetic methods to confirm diagnoses in newborn screening programs for sickle cell disease, alpha-thalassemia, beta-thalassemia, hereditary persistence of fetal hemoglobin, cystic fibrosis and medium chain acyl-CoA dehydrogenase deficiency (a cause of sudden death in young children).
McCabe earned his bachelor's degree from Johns Hopkins University (1967), and his doctorate (1972) and medical degree (1974) from the University of Southern California. He completed his residency in pediatrics at the University of Minnesota (1976) and his fellowship in pediatric metabolism at the University of Colorado Health Sciences Center. He was a faculty member at Colorado and then at Baylor College of Medicine, before moving to UCLA in 1994.
Founded in 1948, the ASHG aims to promote geneticists' research; inform health professionals, legislators and the public about human genetics; and create bridges between geneticists and industry, educators, patients and public advocacy groups. The leading professional membership organization for human geneticists in the Americas, the society's 8,000 members include researchers, academicians, clinicians, laboratory professionals, genetic counselors, nurses and others with special interest in human genetics.
