MECP2 Duplication Syndrome
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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.


Updates to Current Research

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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:

RSRT

The Researchers

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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 


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Hilde Van Esch, M.D, PhD
Centre for Human Genetics
University Hospital Gasthuisberg
Leuven, Belgium




E-mail: hilde.vanesch@uz.kuleuven.ac.be


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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


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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


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