PMS Gastrointestinal Research – from Home
By Kathy Fiscus Operations Coordinator Research at HOME? What is a Smurfcake? The University of Miami and Atrium Health are conducting…
Research Update
February 26, 2021Members of our research community have been asked to provide lay summaries that give a basic overview in clear…
Study on Phelan McDermid Syndrome
Seventy-five percent of individuals with Phelan-McDermid Syndrome have pure 22q deletions, which are either terminal or interstitial. A terminal deletion involves…
Phelan-McDermid Syndrome families inspire zebrafish research study
By Geraldine BlissPMSF Board Member, Parent If you attended the 2016 or 2018 McPosium, you might remember meeting two young investigators, David James…
Stanford researcher finds high prevalence of sleep issues in those with PMS
Ninety percent of individuals with Phelan-McDermid Syndrome have sleep disturbances, according to the results of a Stanford University study. However, only 22…
Researchers unravel a link between a genetic mutation and autistic behaviors – and then find a way to undo it.
Scientists at the University at Buffalo have identified the mechanisms behind a genetic mutation that produces certain autistic behaviors in mice,…
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