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:
This event is now concluded. Recordings will be made available in the near future.
We are excited to celebrate our second full year as a Foundation with the posting of our newsletter.
We are excited to announce our new collaboration with BlinkLab on a research study to better understand brain function in SHANK2 disorders.
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.
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.
