Summary of an Important Research Project:
Investigating the Potential of Antisense Oligonucleotide Therapy for MECP2 Duplication Syndrome
MECP2 Duplication Syndrome is a neurological disorder caused by the duplication of genetic material on chromosome X, spanning the MECP2 gene. As a result of the duplication, there is twice the amount of MeCP2 protein than normal.
A collaboration with the biotech company, ISIS Pharmaceuticals, we developed a synthetic drug that can reduce levels of the MeCP2 protein. We will first test the drug on mice models of the disorder and see if symptoms are improved. We will subsequently test the drug in cells derived from patients in the hopes of seeing normalization of duplication traits.
These experiments could lay the groundwork for a potential treatment of this debilitating disorder.
Please help us raise the money to get this research project started by clicking on the RSRT link below.
A collaboration with the biotech company, ISIS Pharmaceuticals, we developed a synthetic drug that can reduce levels of the MeCP2 protein. We will first test the drug on mice models of the disorder and see if symptoms are improved. We will subsequently test the drug in cells derived from patients in the hopes of seeing normalization of duplication traits.
These experiments could lay the groundwork for a potential treatment of this debilitating disorder.
Please help us raise the money to get this research project started by clicking on the RSRT link below.
Updates to Current Research
In late 2010, we joined efforts with the Rett Syndrome Research Trust (RSRT) in a collaboration to find a treatment for these similar diseases. RSRT is a non-profit organization with a tax ID number. Monica at RSRT was very instrumental in establishing the MECP2 Duplication Syndrome Fund. The Fund exclusively supports projects devoted to the study and means of treatment of MECP2 Duplication Syndrome. 100% of every dollar contributed is invested in research – not a single penny goes to overhead. To date, $881,000 has been raised for duplication projects thanks to the combined efforts of many MECP2 Duplication Syndrome families.
Important Note: When making a donation to RSRT, please make sure you clarify that the money is for“duplication” research. To read more about our coloration with RSRT, please clink on the following link: |
The Researchers
Huda Y. Zoghbi, M.D.
Howard Hughes Medical Institute Baylor College of Medicine One Baylor Plaza T807 Houston, Texas 77030, U.S.A. (713) 798-6558 Fax: (713) 798-8728 E-mail: hzoghbi@bcm.edu 
Hilde Van Esch, M.D, PhD Centre for Human Genetics University Hospital Gasthuisberg Leuven, Belgium E-mail: hilde.vanesch@uz.kuleuven.ac.be 
SakkuBai Naidu, M.D.
Director, Neurogenetics Unit Kennedy Krieger Institute 707 North Broadway Baltimore, MD 21205, U.S.A. (443) 923-2778 Fax: (443) 923-2779 
Sarika U. Peters, Ph.D.
Assistant Professor Departments of Pediatrics and Psychiatry Vanderbilt University, Vanderbilt Kennedy Center for Research on Human Development (615) 322-9410 Email: sarika.u.peters@vanderbilt.edu |
