Phelan-McDermid Syndrome

The Autism Sequencing Consortium has published a white paper in the journal Neuron, identifying several new potential drug targets for ASD and detailing steps forward for the field of autism research. The paper was first authored by Dr. Joseph D. Buxbaum, Director of the Seaver Autism Center, and research was supported by the National Institute of Mental Health and the Seaver Foundation. The full text of the paper can be found here, and the press release issued by the Icahn School of Medicine at Mount Sinai can be found here.

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Researchers at the University of Chicago have completed a study which “suggests that the 22q13 deletion phenotype includes abnormal posterior fossa structures that are unlikely to be attributed to SHANK3 disruption.” This study also indicates other genes which may be related 22q13.3 deletion phenotypes. To read more, click here.

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Researchers at Stanford University and Ulm University confirmed that autism and the Phelan-McDermid Syndrome-associated Shank3 mutation disrupt the connection between brain cells grown in the laboratory. Click here to read more.

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Our conference is a one-day event held at Mount Sinai School of Medicine. It includes a series of lectures and workshops given by accomplished professionals in the field of autism, including Dr. Simon Baron-Cohen as the keynote speaker. The purpose of the conference is to advance knowledge of the practicing psychiatrist, neurologist, psychologist, geneticist, other health care professional, educator, family member and social worker as to the accurate recognition, diagnosis, and treatment of autism spectrum disorders. The morning session features scientific presentations by renowned autism researchers, and the afternoon workshops are led by Seaver researchers and representatives from community partners such as Federation Employment and Guidance Services-Health and Human Services System, and New York organizations such as the Office for People With Developmental Disabilities.

Visit www.seaverconference.eventbrite.com to register and learn more. To view the full conference brochure click here.

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In this paper, researchers from the Centre for Human Genetics at the University Hospitals Leuven in Leuven, Belgium analyze clinical data from 7 patients with 22q13 Deletion Syndrome. Click here to read more.

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At the recent Phelan-McDermid Syndrome Foundation annual conference in Orlando, FL, researchers presented new findings on adult regression in Phelan-McDermid Syndrome. Click here to read more.

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Visit this page to hear Jon Singer on CBS New York discussing his daughter Rebecca’s participation in the IGF-1 clinical trial at the Seaver Autism Center.

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Rebecca Singer is the first participant in the Seaver Autism Center clinical trial of insulin-like growth factor-1 in children with Phelan-McDermid Syndrome. If this trial shows positive results, the eventual goal is to translate it to ASD more broadly. To read about Rebecca’s participation in this study, click here.

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Drs. Katy Phelan and Heather E. McDermid have recently published a paper in Molecular Syndromology, entitled “The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome).” They note that Phelan-McDermid Syndrome is a syndromic form of autism spectrum disorders (ASD), and they discuss the future implications of this connection in the context of developing potential treatments, an area of research in which the Seaver Autism Center specializes.

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Along with colleagues, Drs. Ozlem Bozdagi Gunal and Joseph Buxbaum have recently published a new study in The Journal of Neuroscience which details the phenotypic outcomes of different mutations in Shank3 mice. Click here to read “Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in Adolescent Shank3 Null Mutant Mice.”

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