Two researchers have received grants related to Rett syndrome, a neurological disorder that results in cognitive, motor, sensory and autonomic function disabilities.
RettSyndrome.org, a non-profit dedicated to finding treatments and a cure for Rett syndrome and to support families living with the condition, is funding the grants.
Jeannie T. Lee, M.D., Ph.D., Massachusetts General Hospital, was awarded a two-year, $600,000 grant that focuses on reactivating the “silent X” chromosome in girls with Rett syndrome. The condition is caused by a mutation of the MECP2 gene. Girls with Rett syndrome have a defective MECP2 gene on one of their X chromosomes, and one healthy MECP2 gene on the other X chromosome. But in most cases, the healthy gene is inactive. Lee’s study will focus on activating that healthy gene, since even partial restoration of MECP2 levels has been shown to improve Rett symptoms in laboratory studies with mice.
The second grant, worth $250,000, was awarded to Davut Pehlivan, M.D., Baylor College of Medicine, who is studying MECP2 Duplication Syndrome (MDS) in males. The condition causes low muscle tone, seizures and severe developmental delays. Pehlivan will work with colleagues at Texas Children’s Hospital and the Blue Bird Rett Clinic to develop an assessment tool that can help clinicians to accurately diagnose MDS, which accounts for 1 to 2 percent of X chromosome-related developmental delays in males.
“I believe,” Lee said, “that a specific treatment for Rett syndrome is within reach.”
