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.

Second Annual SHANK2 Research Symposium: New Research Insights and Discusion

May 7, 2023

We’re excited to announce our second annual SHANK2 Research Symposium! The meeting will occur on May 7, 2023 from 10:00am to 12:30pm EDT and will be held virtually. All researchers interested in SHANK2 are invited to attend. Confirmed speakers are:

  • Aleksandra Badura, Department of Neuroscience, Erasmus MC, Neatherlands
  • Hans-Jürgen Kreienkamp, Department of Human Genetics, University of Hamburg, Germany.

Registration is free. Please fill out the form to register.

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