SHANK2 Patient Registry


Research is essential to understand the role SHANK2 variants play in autism spectrum disorder (ASD), intellectual and developmental disability (IDD), and other developmental and mental health disorders. But given how rare SHANK2 variants are, scientists need our help in providing them with information.  By registering our children with the SHANK2 Patient Registry, we can contribute to the database of affected individuals and help make progress in the development of treatments for SHANK2 disorders. Registering your child is free.  

SHANK2 Phenotyping Study

The SHANK2 Foundation is partnering with the world renowned Seaver Autism Center in New York City to do a natural history study of individuals with SHANK2 disorders. Phenotyping studies are done to collect information about individuals, over time, to better understand how diseases progress. Participants in the study will undergo a common assessment and the findings will be used to build an archive of physical and behavioral characteristics associated with SHANK2 disorders for use in future research.

There is no cost to participate and the study is currently enrolling. Participation can be done either remotely through video calls or in person in New York City.  A report of your child’s assessment results will be returned to you upon completion of the study.

The First Annual SHANK2 Day Conference

The SHANK2 gene is located at 11q13 on the human genome.  Fittingly, we will host the First Annual SHANK2 Day Conference for individuals, families, researchers, clinicians, and industry partners on November 13, 2021. The conference will be virtual this year and cover topics ranging from current research on SHANK2 to panel discussions for families. All are welcome to attend and there is no cost to register. Stay tuned for updates!

Confirmed Speakers:

  • Reut Beizer-Stanitsky – ESDM Certified ABA Consultant, Blue Stars Therapy
  • Dr. Thomas Bourgeron – Professor of Human Genetics and Cognitive Function, Institut Pasteur, France
  • Dr. Guoping Feng – Associate Director, McGovern Institute, Massachusetts Institute of Technology
  • Dr. Benjamin Hutz – Associate Professor of Mathematics, Saint Louis University
  • Dr. Yong-Hui Jiang – Professor and Chief of Medical Genetics, Yale University School of Medicine
  • Omid Karkouti – Co-founder and COO of Rarebase

The registration information is used only for SHANK2 Day communications. A schedule and a meeting link will be distributed prior to the start of the conference.