Bio Patient & Health Advocacy
By Tony Samuel, Father to Nadia Bio Patient & Health Advocacy Summit 2018 The 7th annual Bio Patient & Health Advocacy Summit…
Piloting Treatment with IGF-1 in Phelan-McDermid Syndrome
By Geraldine Bliss, Board Member and Research Liaison Since 2012, the Seaver Autism Center at the Icahn School of Medicine at Mt. Sinai…
Research Experience Survey Results
By Diane Linnehan, Program Director The results are in! One of the primary strategic objectives of the Foundation Family Support is to characterize the…
First SHANK3-deficient primate model
By Geraldine Bliss, Director, Phelan-McDermid Syndrome Foundation July 28, 2017 Over the last several years there have been many important…
Understanding Ryan
https://youtu.be/XudWvmnDwW4 Jul 24, 2017 Ryan is 1 of only 1500 people to be diagnosed with Phelan-McDermid syndrome. Many underestimate his intelligence due to…
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…
Sammy’s Miracles
We lived in Vienna and Madrid, a bit in London and Zurich, a few months in Milan. We thought we would…
New seizure registry now available for Phelan-McDermid Syndrome families
Twenty-one rare epilepsy organizations have joined forces with the Epilepsy Foundation, Research Triangle Institute, Columbia University and New York University to…
Lithium As a Rescue Therapy…
Lithium as a rescue therapy for regression and catatonia features in two SHANK3 patients with autism spectrum disorder: Case Report Read…
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,…