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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- EIN 04-3673104
- info@pmsf.org
- (941) 485-8000
- 8 Sorrento Dr Osprey FL 34229 USA
- www.pmsf.org
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Nonprofit Overview
Causes: Health, Human Services, Specifically Named Diseases, Specifically Named Diseases Research
Mission: The mission of phelan-mcdermid syndrome foundation is to improve the quality of life of people affected by phelan-mcdermid syndrome worldwide by accelerating research, providing family support and raising awareness.
Programs: Registry and pcori contract - in 2014, pmsf was awarded an 18 month research contract from the patient-centered outcomes research institute (pcori). The purpose of this contract is to collect & integrate patient data from patients with pms and make it available to researchers. This contract will also expand the foundation's patient registry.
family support, awareness & education - our 2014 biennial family conference in orlando, fl experienced a 20% increase in attendance with 192 families participating from around the globe. The conference featured educational sessions, meetings for families, siblings, extended family members and caregivers, art therapy, social gatherings and an educational and vendor expo. Our conference provides an opportunity for families to connect in person, share and learn from their experiences and support each other. Pmsf also conducted other educational & support activities for families affected by pms.
research support - in 2014, pmsf committed support to the rare disease clinical research network (rdcrn) developmental synaptopathies consortium which includes 6 clinic sites nationwide. These funds will provide physician training, patient travel, submission of pms/shank3 patient data & electronic case forms to the rdcrn data management center. The goal of this consortium is analysis of genetic disorders such as pms with high incidence of autism spectrum disorder & intellectual disabilities (asd/id) to shed light on molecular pathways & therapeutic targets relavent to asd/id.