Dr. Shaun Cowley, a postdoctoral fellow in Dr. Robert Eisenman's lab in the Basic Sciences Division, has received the Alan P. Wolffe Memorial Award from the Rett Syndrome Research Foundation. The $105,000, two-year grant was one of 13 given to researchers around the country. Cowley's proposal received the highest score of the postdoctoral applications that were submitted for consideration.
The foundation supports studies to improve the understanding of Rett Syndrome, a debilitating genetic-neurological disorder that primarily affects girls after their first two years of life. Symptoms include mental retardation and the loss of physical and verbal skills. The disease is caused by a defect in a protein known as MecP2, which binds to DNA that is chemically modified in the cell by a process known as methylation.
Cowley's work focuses on a protein called Sin3 that is known to interact with MecP2. Together, the two proteins shut off, or repress, the expression of other genes. Cowley will study mice that lack Sin3 and examine the resulting changes that occur in the function of Mecp2. Other studies have shown that mice lacking Mecp2 exhibit symptoms similar to humans with Rett Syndrome, indicating that mouse models are a useful approach for studying the disease.
Founded in late 1999, the Rett Syndrome Research Foundation is the world's only organization committed exclusively to advancing and supporting biomedical research for Rett Syndrome. Cowley's fellowship is named for Dr. Alan Wolffe, a chromosome biologist and advisor to the foundation who died in 2001.