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MECP2 Duplication Syndrome


This is a list of MECP2 Duplication Syndrome Resources and blog posts I've done on this disease. Please visit the sites below to find out more about how you can support families affected by MECP2 Duplication Syndrome.  


Posts on This Blog:  
What is MeCP2 Duplication Syndrome? 
Disease Characteristics 
Cytogenetic Testing  
Molecular Quantitative PCR Testing 
Molecular MLPA Testing
MECP2 Girls and Skewed X-Inactivation  
What is Hypotonia?


 Other Web Sites: 
 Dick Sobsey's MECP2 Duplication Blog 
 Pam Albert's MECP2 Duplication Syndrome Website 
  NCBI Bookshelf - MECP2 Duplication Syndrome 
 (French Language) MECP2 Blog  


For Affected Families:  
Add your child's profile to the list of affected families 
MECP2 Family Conference  
Facebook MECP2 Family Page  


Donate: 
 Buy a T-Shirt 
(From Pam Albert's MECP2 Website...
At the present time, there are two types of research going on at the Baylor College of Medicine in Houston, TX. 
 
Dr. Huda Zoghbi is conducting basic science research on MECP2 Duplication Syndrome.  This involves studying the pathophysiology of disease in mice engineered to have the syndrome as well as the testing of drug compounds to see if the disease process can be impacted.
Dr. Melissa Ramocki is conducting clinical research on MECP2 Duplication Syndrome.  It is important to understand the natural history of the syndrome, as well as the effects of the size and gene content of the duplicated region on clinical phenotypes, in anticipation of clinical trials in the future.  She is also interested in understanding why affected children are predisposed to infection so that the infections can be prevented.
 
To make a secure, online donation: 
 1.  Click the following link: https://connect.bcm.edu/donatenow  
2.  Click the "Continue to this website (not recommended)" button if it appears. This is for security purposes and will not be harmful to your computer. 
 3.  Select "Other"  from the dropdown box. 
4.  Enter the amount for donation in the top box and type MECP2 Duplication and how you wish to have the funds distributed in the lower box.  Example:  $75.00 to basic science research (Zoghbi) and $25.00 to clinical research (Ramocki).
5.  Click the add to cart button and follow the instructions.  


If you wish to send a check or money order by mail:  Print out a gift form (http://216.235.203.20/NETCOMMUNITY/Document.Doc?id=68) which has honor/memorial prompts as well. *Checks should be made out to Baylor College of Medicine.  In the memo section, designate MECP2 Duplication and how you wish to have the funds distributed -- Example:  $75.00 to basic science research (Zoghbi) and $25.00 to clinical research (Ramocki). *The form and check or money order should be mailed to:  


Baylor College of Medicine 
Office of Development 
One Baylor Plaza, MS: BCM160 
Houston, Texas  77030  


Baylor College of Medicine is a 501(c)(3) organization, so donations are tax-deductible.

MECP2 Duplication Syndrome