Rare Diseases

SEAVER AUTISM CENTER FOR RESEARCH AND TREATMENT

The Seaver Autism Center for Research and Treatment at the Icahn School of Medicine at Mount Sinai has pioneered groundbreaking discoveries in autism genetics. Our work has revealed that many individuals with autism have specific genetic conditions, opening new avenues for understanding and treating autism from a genetic perspective. Employing a unique precision therapeutics approach, we identify and study rare genetic diseases with high autism risk, each presenting distinct characteristics and opportunities for targeted treatments for those with profound autism.

Building on our leadership in gene discovery, the Seaver Autism Center has emerged as a premier research institution advancing treatments for rare genetic diseases and autism. Our focus centers on several top autism genes identified by the Autism Sequencing Consortium. Our comprehensive approach integrates preclinical research using human neurons, organoids, and rodent models with clinical research assessing phenotypes in individuals with specific genetic mutations. This seamless coordination across our laboratories enables us to conduct cutting-edge clinical trials and develop novel therapeutics, aided by our specialists in drug discovery and development.

Our expertise and state-of-the-art resources drive our study of rare diseases associated with autism. Our active research encompasses top autism genes including ADNP, ARID1B, CACNA1, CHAMP1, CHD8, DDX3X, DYRK1A, FOXP1, NF1/2, and SHANK2/3. Our team not only helped identify many of these crucial genes but also employed genetic, functional, and clinical approaches to comprehensively understand their manifestations. We have observed patients, identified biomarkers, and established relevant clinical endpoints to lead groundbreaking clinical trials. By disseminating clinical guidelines, we have empowered families to access optimal care. Our innovative work extends to cellular studies, mapping phenotypes in human neurons to illuminate molecular changes and screen potential treatments. Through the development of rodent models with translatable endpoints, we've created powerful tools for validating new therapies. These efforts have culminated in successful clinical trials for several genetic disorders, including ADNP and Phelan-McDermid syndromes, marking significant strides in our mission to improve lives affected by autism and rare genetic conditions.