Researchers are working hard to develop treatments to improve the quality of life for individuals with SHANK2 disorders….but information on these extraordinarily rare diseases is limited.

As parents and caregivers of affected individuals, we have the power to provide scientists with the data needed to accelerate the development of treatments, raise awareness and support one another.

First and Foremost, we need data

By joining the SHANK2 Foundation registry and enrolling your child in our phenotyping study, you can contribute to the information needed by scientists to better understand the role SHANK2 plays in brain function. The more they understand, the easier it will be to develop treatments and, maybe someday, find a cure. There is no cost to you for participating.

What is the SHANK2 Gene?

The SHANK2 gene, located on the 11th chromosome, provides the code for producing SHANK2 protein which is essential for proper brain function. SHANK2 protein plays an integral role in the transmission of messages from one neuron to the next. When an error occurs in the coding of the gene, individuals may be affected by:

  • Autism spectrum disorder (ASD)
  • Intellectual and developmental disability (IDD)
  • Attention deficit hyperactivity disorder (ADHD)
  • Fine and gross motor deficits
  • Schizophrenia
  • Speech and language delays

Connect with our Community

  • Contact us:
  • Join our Registry
  • Enroll in our Phenotyping Study
  • Subscribe to our newsletter
  • Join the SHANK2 Foundation Facebook group 
  • Participate in one of our monthly virtual meet-ups for families.
  • See a doctor specializing in SHANK2 at one of our partner clinics (USA, France, Israel, China)
  • Participate in the second annual SHANK2 Day on November 13, 2022

News and Events

Third Annual SHANK2 Day Meeting
December 10, 2023

The meeting will run from 9:00am until 2:00pm Eastern Standard Time, and will be held virtually. Schedule details will be sent out later this fall. Register here.

July 2023 Newsletter

We are excited to celebrate our second full year as a Foundation with the posting of our newsletter.

BlinkLab Partnership

We are excited to announce our new collaboration with BlinkLab on a research study to better understand brain function in SHANK2 disorders.

Probably Genetic Partnership

We are excited to announce our new collaboration with Probably Genetic as a patient-finding partner for our community. If you or anyone you know is looking for a trusted genetic testing resource, Probably Genetic runs a no-cost, low barrier testing program for individuals experiencing seizure and developmental delay-related disorders. See here for more details.

Phenotyping Study Begins!

We are excited to announce that the phenotyping study with the Seaver Austim Center for Research and Treatment is set to begin. We have enrolled the minimum number of participants and are excited for the study to begin. See here for more details on the study.

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