The Manton Center for Orphan Disease Research
Christopher Walsh, MD, PhD
Christopher Walsh, MD, PhD, is widely regarded as one of the nation's leading neurogeneticists. His research is illuminating both the causes of devastating developmental disorders, such as mental retardation and autism, and providing insight into the normal growth and functioning of the human brain. Among his laboratory's research interests is microcephaly, a condition in which the brain fails to achieve normal growth, resulting in mental retardation (MR) and other serious problems. Treatment is symptomatic and supportive; there is no treatment for the underlying condition.
The genes responsible for microcephaly are often essential for proliferation of the stem cells that give rise to neurons in the brain. Thus identification of genes that cause microcephaly will lead not only to better diagnosis and counseling for families with affected children, but also to a better understanding of human brain stem cells, which may have important relevance for developing stem cell therapies.
Dr. Walsh's laboratory has identified more than 2,000 families with different forms of MR from around the world and has found genes associated with microcephaly and similar disorders. Among the half-dozen genes associated with microcephaly are some that are also linked with an elevated risk of developing cancer and immune system disorders.
Once an MR gene is identified, it is vital to develop clinical DNA tests and prenatal screening methodologies, which make it possible for physicians to offer better genetic counseling for families. In addition to their gene-finding studies, Dr. Walsh and colleagues carry out painstaking studies to understand the basic biological functions of the genes they have identified, with the aim of applying this knowledge in the development of new therapies for troubling disorders.
A Howard Hughes Institute Investigator, Dr. Walsh has received many awards, including the Research Award from the American Epilepsy Society, the Dreifuss Penry Award from the American Academy of Neurology and the Derek Denny-Brown and Jacoby Awards from the American Neurological Association.
|To learn more about the science behind Dr. Walsh's work, go to the Children's interactive feature The Neuron|