Rare Diseases

Through the work of its director, Joseph D. Buxbaum, PhD, the Seaver Autism Center for Research and Treatment is a leader in gene discovery in autism and has demonstrated that many individuals with autism have genetic conditions. This provides an opportunity to consider autism from a genetic perspective, identifying and studying rare genetic diseases with high risk for autism, each having specific characteristics and potential opportunities for unique, targeted treatments.

Building on its leadership in gene discovery, the Seaver Autism Center has become one of the foremost research centers advancing the treatment for rare genetic diseases and autism. We focus on several of the top autism genes discovered by the Autism Sequencing Consortium, an international collaboration co-founded by Dr. Buxbaum. For each gene we study, researchers in the Seaver Autism Center coordinate across their laboratories, studying human neurons and organoids in culture, as well as rodent models with mutations in the genes, and assessing clinical and biomarker phenotypes in individuals with mutations in these genes. We also carry out clinical trials in these disorders and, with the help of our specialists in drug discovery and development, we have developed comprehensive strategies for novel therapeutics.

We have also brought genetic testing to the forefront of autism diagnosis and care.


The Seaver Center brings multidisciplinary expertise and state-of-the-art resources to the identification and study of rare diseases. Top autism genes under active study at the Seaver Center include ADNP, ARID1B, CHAMP1, DDX3X, DYRK1A, FOXP1, NF1, SHANK2 and SHANK3.

Our team has:

  • Identified the top genes in autism and uses genetic functional and clinical approaches to comprehensively understand how the mutations manifest.
  • Observed patients with the disorders we study and identified biomarkers and relevant clinical endpoints in order to lead clinical trials for these genetic disorders.
  • Disseminated clinical guidelines for these disorders to help families obtain optimal care.
  • Collected cells from patients and mapped the cellular phenotypes associated with human neurons. These studies illuminate molecular changes that contribute to behavioral differences and also provide a method to screen drugs for treatment.
  • Generated rodent models and characterized translatable behavioral and physiological endpoints to use for validation of drugs for treatment.
  • Carried out clinical trials in these genetic disorders: ADNP and Phelan-McDermid-Syndrome.