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.
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.
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:
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.
The First Annual SHANK2 Day Conference has concluded. Looking forward to next year to see the advances we have made!