The SHANK2 Foundation is committed to bringing together all individuals affected by SHANK2 variants–including carriers, families, researchers, clinicians, and industry partners.
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.
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:
There is no cost to you or the SHANK2 community, and this is one of the best ways you can help advance SHANK2 research.
The SHANK2 Foundation is building the SHANK2 Data Collection Program (Patient Registry) to:
Our goal is to make the process as easy as possible for you. View this recording to learn more or email ben@shank2.org with any questions.
