Baylor College of Medicine professor Dr. Huda Zoghbi will be honored with the 2014 March of Dimes Prize in Developmental Biology, for her pioneering work on Rett syndrome. The award is usually given to investigators which have helped to develop the science that underlies the comprehension of birth defects. This year’s ceremony will happen on May 5, in Vancouver.
A professor of neuroscience, neurology, molecular and human genetics in the field of pediatrics, Dr. Zoghbi is known for her research into the genetic neurological disease that affects young girls, Rett syndrome. The disease is characterized by the loss of motor skills, speech, and other cognitive abilities in girls one or two years after birth. Prior to Dr. Zoghbi’s work, little was understood about what causes the disease, let alone how to potentially treat or cure it.
“Dr. Zoghbi’s contributions to our understanding of several entirely different neurological disorders, including her finding of the genetic basis of Rett syndrome, have opened new areas of research,” says senior vice president for Research and Global Programs at the March of Dimes Dr. Joe Leigh Simpson.
Zoghbi is also a Howard Hughes Medical Institute investigator and the founding director of the Jan and Dan Duncan Neurological Research Institute, at Texas Children’s Hospital. “Her work influences the entire field of autism and other neuropsychiatric disorders,” Dr. Simpson added.
Zoghbi first came in contact with Rett syndrome during her residency. For sixteen years, she has remained committed to searching for the genetic cause of the syndrome. In 1999, her identification of the Rett gene changed the course of research for the better understanding the disease, making it possible to develop treatments. This pivot in the research focus for Rett Syndrome has also allowed scientists to make equivalent mutations in mouse models, developed by researchers to build progressive neurological symptoms similar to humans.
Caused by deficiency of MeCP2, a protein which binds methylated DNA, Rett syndrome residents in the X chromosome. In women with two X chromosomes, it is inactivated in each cell, randomly. As a result of these conclusions, Dr. Zoghbi discovered the groundwork for further studies, as well as how to develop new therapeutic strategies, which are now undergoing clinical trials.
Dr. Huda Zoghbi has been recently honored with the $100,000 Edward M. Scolnick Prize in Neuroscience, as BioNews Texas previously reported. The award recognizes outstanding advances in the field of neuroscience.