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Phelan Mcdermid Syndrome Foundation

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Osprey, FL
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Jason37

Phelan McDermid Syndrome (aka 22Q13) is a genetic disorder encompassing the deletion of a string of genes on the 22nd chromosome which includes the SHANK3 Gene. SHANK3 deletions and mutations have recently been identified as a cause for AUTISM. Although the number of identified 22Q13 children number around 600 worldwide (as the current tests can only identify deletions and not mutations), the consensus is that the number of currently non-identified mutations may be in the 100's of thousands. My son, a 4 year old boy, is one of the 600 identified deletions. The Phelan McDermid Syndrome Foundation (PMSF) has been a lifesaver for us. It is a non-profit, founded and managed by parents of other 22Q13's. The foundatoin has been recognized and receives support from such organizations as the NIH, AutismSpeaks, etc.The foundation, in addition to providing support to the children suffering from the syndrome, has undertaken a tremendous effort to contribute to the research community. The foundation has determined that by creating a genetic repository of samples from our 600 kids, that AUTISM researchers (in addition to EPILEPSY researchers, PAIN MANAGEMENT researchers, SEIZURE researchers) will be provided with a before unattainable treasure chest of genetic data which we are all confident will lead to discoveries to aid children across the ENTIRE SPECTRUM. Since the foundation is run and managed by parents (all of profoundly special needs children), the fundraising abilities are limited. I am hoping by listing the foundation on this site, that it may provide further awareness which may lead to additional donations.

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