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MECP2 Duplication Foundation Supporting Families and a Cure

The MECP2 Duplication Foundation

The MECP2 Duplication Foundation is a family founded organization providing support for the MECP2 Duplication community. Our goal is to provide families diagnosed with this disorder information and support, to increase awareness of the disorder, and to provide funding to cutting edge research that will one day treat those affected and enhance their quality of life.

How can you help?

Join the email/mailing list by using the link below. If you are interested in attending our April 12th Kickoff Fundraiser Gala or making a donation, please use the link below to download a registration form. Completed form and a check can be mailed to the address included.

For more information scroll down, or contact info@mecp2d.org

"Supporting Families"

What is MECP2 Duplication Syndrome?

MECP2 duplication syndrome is a rare genetic neurodevelopmental disorder characterized by a wide variety of symptoms including low muscle tone, potentially severe intellectual disability, developmental delays, recurrent respiratory infections, speech abnormalities, seizures, and progressive spasticity. These symptoms dramatically decrease the expected life span and quality of life of those diagnosed.
MECP2 duplication syndrome is caused by the duplication of genetic material on a specific region on the X chromosome. This region includes the MECP2 gene and typically several adjacent genes. In most affected individuals, the MECP2 duplication is inherited in an X-linked manner.
"Helping Find a Cure"

There is Hope

There are promising research efforts directed at developing a treatment for MECP2 Duplication Syndrome.
Current work performed at the Texas Children's Hospital in Houston shows it is possible to genetically reverse most of the behavioral, motor and cognitive symptoms in mice models of this syndrome. More importantly, researchers observed similar success using specific antisense oligonucleotides (ASOs) that can be used clinically to treat patients affected by an overproduction of the MECP2 protein.
With support, researchers in Texas and across the United States can continue work on decreasing the overproduction of MECP2 protein production using ASOs and eventually develop a genetic treatment.
"How Can you Help?"

How Can You Help?

The MECP2 Duplication Foundation aims to support families affected by MECP2 Duplication Syndrome and help direct funds to further current and future research. How can you help?

1. Attend the MECP2 Duplication Foundation Kickoff Dinner

2. Donate to the MECP2 Duplication Foundation

3. Become an MECP2 Duplication Champion, support the work, recruit others, sponsor an event

To help or donate, please contact info@mecp2d.org

Supporting Families and Finding a Cure

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