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…
Posts about advances in Phelan-McDermid syndrome research
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…
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…
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,…
Oxytocin sails into trials for Phelan-McDermid syndrome
The hormone oxytocin is proceeding into clinical trials for people with Phelan-McDermid syndrome, researchers revealed yesterday at the 2015 International Meeting for…
Listening To The Voice Of The Patient In Precision Medicine
PMSF mom Megan O’Boyle and her daughter, Shannon, is featured in this piece in Forbes. She’s addressing a topic many parents…
Q&A with Dr. Thomas Bourgeron
EU-AIM leader talks about autism, finding the elusive SHANK3 mutation and whether PMS cases are common Dr. Thomas Bourgeron is one…
Brain Tissue Donation
Autism BrainNet is composed of a network of scientific institutions that follow the high standards set by Autism BrainNet to collect,…
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