A Case for Discovery-driven Research From One Who Knows
The March of Dimes Foundation recently announced its 2014 Prize in Developmental Biology was awarded to Dr. Huda Zoghbi, professor of neuroscience, pediatrics, molecular and human genetics and neurology at Baylor College of Medicine and a past member of the Children’s Discovery Institute Scientific Advisory Board. The March of Dimes prize was created in 1995 as a tribute to Dr. Jonas Salk, a pioneer in the development of the polio vaccine, and recognizes investigators whose research has profoundly advanced the science that underlies our understanding of birth defects. Remarkably, of the past recipients, five have gone on to win the Nobel Prize in Physiology or Medicine.
Among Dr. Zoghbi’s numerous scientific achievements is her pioneering work on Rett syndrome, a genetic neurological disease that occurs almost exclusively in young girls, causing a slow progression of motor skills, speech and other cognitive abilities. Dr. Zoghbi first encountered the syndrome as a pediatric neurology resident, and has been committed to discovering the genetic cause of the syndrome ever since.
Her search took 16 years and sent her down paths – some leading to dead ends – she didn’t expect, until she finally succeeded in identifying the Rett gene in 1999. That discovery led to additional studies to develop therapies for Rett syndrome that are now undergoing clinical trials and also opened up new areas of research in autism and related disorders.
I believe the reason Dr. Zoghbi succeeded was her belief in the power of discovery-driven research and her respect for how scientific knowledge actually grows. She wrote about this in the January 18, 2013 issue of Science, challenging research investors to assign a high value to the curiosity and passion for gaining knowledge in all of its forms. “We can be sure,” she wrote, “that human imagination will find applications for knowledge, if we are allowed to develop that knowledge in the first place.” Through the CDI and the basic research it supports, St. Louis Children’s Hospital and Washington University School of Medicine are doing their part to ensure that growth of knowledge will lead to discoveries in pediatric medicine.
Mary Dinauer, MD, PhD
Mary Dinauer, MD, PhD, is the scientific director of the Children’s Discovery Institute. She also is the Fred M. Saigh Distinguished Chair in Pediatric Research at St. Louis Children’s Hospital, and Professor of Pediatrics, Pathology and Immunology at Washington University School of Medicine.