Research by Topic: Phelan-McDermid Syndrome

AGENDA’s First Initiative is a Unified Registry of Family Data

Published October 17, 2018

Today, ASF announced that it will be leading the newly-launched Alliance for Genetic Etiologies of Neurodevelopmental Disorders and Autism (AGENDA). This alliance is a partnership of research and advocacy organizations focused on improving outcomes of individuals with all forms of autism by fostering a genetics-first approach to autism science. AGENDA will also work to strengthen […]

Filed under: ASD, asf, Autism, collaboration, database, dup15q, Dup15q Alliance, featured, fragile X syndrome, FRAXA, FRAXA Research Foundation, genetic, Phelan-McDermid Syndrome, Phelan-Mcdermid Syndrome Foundation, PMSF, registry, research, Rett Syndrome, Rett Syndrome Research Trust, RSRT, science, SFARI, Simons Foundation, Simons VIP, subtypes, TSA, Tuberous Sclerosis, Tuberous Sclerosis Alliance

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Podcast: Can IGF-1 treat autism symptoms? A clinical trial aims to find out

Published September 10, 2018

Researchers at Mount Sinai led by Alex Kolevzon are running a clinical trial of the compound insulin-like growth factor 1 (IGF-1) for children with idiopathic autism. Dr. Kolevzon’s team previously demonstrated the safety and feasibility of IGF-1 in treating Phelan-McDermid syndrome, a single-gene form of autism. Particularly, the IGF-1 treatment improved symptoms of social impairment […]

Filed under: Alex Kolevzon, ASD, Autism, clinical trial, drug, featured, IGF-1, insulin-like growth factor 1, intervention, medication, Mount Sinai, Phelan-McDermid Syndrome, PMS, restricted and repetitive behavior, social impairment, Treatment

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Podcast: PMS – It’s not what you think

Published July 30, 2018

On this week’s podcast, highlights from the Phelan-McDermid Syndrome Foundation 2018 International Family Conference in Dallas, TX. People with Phelan McDermid Syndrome, or PMS, suffer from seizures and intellectual disability, and about 70% have an ASD diagnosis. This syndrome is caused by mutations of the SHANK3 gene, which is present in about 1% of people […]

Filed under: asf, Autism, children, Family, featured, intervention, outcomes, Phelan-McDermid Syndrome, PMS, podcast, research, science, support

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Podcast: An ode to rats as animal models for autism

Published February 12, 2018

On this week’s podcast, a study led by Elizabeth Berg in the lab of Dr. Jill Silverman at UC Davis published in the journal Autism Research demonstrated SHANK3’s role in core social communication deficits in a rat model of autism. Rats exhibit both receptive and expressive communication. SHANK3 mutations are seen in those with Phelan-McDermid […]

Filed under: Animal Models, Autism, Autism Research, featured, Jill Silverman, Phelan-McDermid Syndrome, research, science, Shank3, social communication, UC Davis

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