Category Archives: News

Drs. Katy Phelan and Catalina Betancur have published a clinical utility gene card for 22q13 deletion syndrome. The card details aspects of the syndrome such as disease characteristics, test characteristics and clinical utility. To view the card, click http://www.ncbi.nlm.nih.gov/pubmed/21150887. To … Continue reading →

A number of Shank3 mouse models have been created in an effort to explain the role that Shank3 mutations play in the development of autism spectrum disorder (ASD) features. Following the characterization of the first Shank3 mouse by Dr. Ozlem … Continue reading →

In May Dr. Joseph Buxbaum, Director of the Seaver Autism Center, was a member of the Shank3 gene research panel at the annual International Meeting for Autism Research (IMFAR). Dr. Buxbaum and his team were the first group to publish … Continue reading →

Dr. Joseph Buxbaum, Director of the Seaver Autism Center, has been awarded the 2011 Mount Sinai Dean’s Award for Excellence in Translational Science, for his innovative work in gene discovery and the development of novel therapeutics for neurodevelopmental disorders. Congratulations! … Continue reading →

On March 3-4, 2011, the Seaver Autism Center co-organized the First International Phelan-McDermid Syndrome Symposium. The Symposium brought researchers, clinicians, and parent advocacy groups together to discuss 22q13 deletion syndrome, Shank3, and the development and implementation of novel therapeutics. Dr. … Continue reading →

A study headed by Jacques Michaud from the University of Montreal identified a de novo splice site mutation in the SHANK3 gene in a boy with mild intellectual disability. This mutation changes the assembly of the protein during its synthesis and … Continue reading →

Dr. Buxbaum and the Seaver Autism Center are proud to join the Singer family, and Team Drive4Rebecca in the New York City Triathlon on August 7, 2011. The Drive4Rebecca is a proud supporter of the groundbreaking research underway at the Seaver … Continue reading →

The  Seaver Autism Center Advances in Autism Conference will be held on Sunday, April 3, 2011. Chaired by Dr. Joseph Buxbaum, Director of the Seaver Autism Center, the conference is designed for healthcare professionals, educators, social workers and family members, … Continue reading →

A new study with a woman with Phelan-McDermid Syndrome (PMS) identifies the smallest published SHANK3 deletion to date. The fact that this small deletion results in the full manifestations of PMS reinforces the finding that disruption of the SHANK3 gene … Continue reading →

Science Magazine featured the new mouse model that has a loss of one copy of the SHANK3 gene. This model was created by Dr. Joseph Buxbaum and studies by him and other investigators at the Seaver Autism Center at the … Continue reading →