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: contact@shank2.org
  • 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

Second Annual SHANK2 Day Conference
December 4, 2022. 9:00am - 2:00pm ET

The Second Annual SHANK2 Day Conference will be help on December 4th from 9:00am to 2:00pm Eastern Time, and be held virtually. A link will be sent prior to the meeting to those registered.

The program will be comprised of short talks from SHANK2 experts, as well as small group discussions and question and answer sessions.

EXCITING NEWS!
New Drug Discovery Partnership

The SHANK2 Foundation is excited to partner with biotech company Rarebase on their newly launched Function platform. Function tests the effects of thousands of FDA-approved and drug-like compounds on gene expression. We hope to identify potentially effective drugs for SHANK2 disorders. We are excited to be part of the platform and look forward to sharing progress with our community in the upcoming months.

See the full press release.

Newsletter January 2022

We are excited to share the developments from our first six months as a foundation supporting the SHANK2 community. Read the first edition of our newsletter.

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