The Friedman Brain Institute

The Seaver Autism Center has been instrumental in discovering new genes implicated in autism and is a member of the Autism Sequencing Consortium (ASC), an international group of researchers involved in high-throughput sequencing in autism. Joseph D. Buxbaum, PhD, Director of the Seaver Autism Center for Research and Treatment at the Icahn School of Medicine at Mount Sinai, co-founded and co-directs the Consortium. The Seaver Autism Center for Research and Treatment and multiple labs in The Friedman Brain Institute study autism, including both preclinical and clinical research of the genes identified by the Consortium.

Advances in Autism Research

The aim of the Autism Sequencing Consortium is to collectively exploit sequencing approaches to resolve a substantial fraction of the genetic factors involved in autism. Funded by the National Institutes of Health, the Consortium has analyzed 150,000 participants, 20,000 of whom have been diagnosed with autism, and identified over 250 genes with strong links to autism. This represents one of the sequencing studies in psychiatry and one of the largest international efforts in autism research. The ASC has also studied many other genes involved in brain development and function.

Advances in Patient Care

Using our translational research strategy, our researchers have tested several treatments for autism, and continue to have an active experimental therapeutics program. Alex Kolevzon, MD, the Clinical Director of the Seaver Autism Center for Research and Treatment, is leading several clinical trials for children and adults with autism and single-gene causes of autism, such as Phelan-McDermid syndrome (PMS). The researchers began with the discovery that a missing or mutated copy of the SHANK3 gene in humans causes 22q13 Deletion Syndrome/PMS. Most people with PMS are also affected by autism, and the SHANK3 gene mutation accounts for one percent of autism cases and up to two percent of cases of intellectual disability. Researchers replicated this mutation in rodent models, and found that insulin-like Growth Factor-1 (IGF-1) reversed the social deficits caused by the mutation leading to clinical trials of IGF-1 in PMS. Clinical researchers have recently established that individuals with PMS who are treated with recombinant human growth hormone (rhGH) showed increased levels of IGF-1 and clinical improvement in social withdrawal, hyperactivity, and sensory symptoms. These results are promising and indicate the need for larger studies with rhGH in PMS, and in autism more broadly.

Scientists involved in autism research include:

• Shlomit Beker, PhD
• Deanna Benson, PhD
• Michael S. Breen, PhD
• Joseph D. Buxbaum, PhD
• Jinye Dai, PhD 
• Silvia De Rubeis, PhD
• Jennifer Foss-Feig, PhD
• Yitzchak Frank, MD
• Dorothy Grice, MD
• Danielle Halpern, PsyD
• Hala Harony-Nicolas, PhD
• George W. Huntley, PhD
• Alexander Kolevzon, MD
• Ana Kostic, PhD
• Tess Levy, MSc
• Behrang Mahjani, PhD
• Susan Morgello, MD
• Hirofumi Morishita, MD, PhD
• Georgia Panagiotakos
• Dalila C Pinto, PhD
• Avraham Reichenberg, PhD
• Catherine Sancimino
• Sven Sandin, PhD
• Tristan Shuman, PhD 
• Jeremy M. Silverman, PhD
• Paige M Siper, PhD
• Xuran Wang, PhD
• Herbert Wu, PhDt 
• Xiaoting Wu, PhD
• Nan Yang, PhD
• Bin Zhang, PhD
• Jessica Zweifach, PhD