22q11 Deletion - Phelan-McDermid Syndrome - Need your help!!!

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22q11 Deletion - Phelan-McDermid Syndrome - Need your help!!!

Has anyone out there been invovled in any research for various genetic disorders, ultimately leading to disorders on the autistic spectrum (or Pervasive Developmental Delays)? I've been researching a bit on a deletion on the long arm (q) of chromosome 22 that was discovered by Dr. Heather McDermid and Dr. Katy Phelan. Some of the characterizations include severely delayed speech, minor dismorphic features, and haploin sufficiency (for SHANK3 and PROSAP2). It seems, and I'm curious to see if there is more research to support this, that the SHANK3 and PROSAP2 are inhibited to the point where there is insufficient protein levels for normal functioning - ultimately being responsible for most of the neurological symptoms associated with this disorder.

I'd like feedback from anyone who may be doing any types of research on autism spectrum disorders. There is a desperate cry from the autism community for answers to this puzzling mystery - and a lot of the responsibility has been placed on our shoulders (genetics researchers) to identify genes, promoters, proteins, etc. that are linked to this disorder. Once we have these identified, we can move forward with trying to find gene therapy techniques, genetic markers to identify a pre-disposition, alternatative neurological rehabilitation (i.e. re-routing the brain to complete tasks similiar to treatment for victims of stroke or heart attack that have lost some brain function and have to re-train the brain), or better yet. . . . . A CURE FOR AUTISM!!!!!!

Please help move this process forward - with the entire scientifc community working together, we can share ideas and information to unravel this mysterious disorder at a faster pace. Your input is deeply valued - please help.