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 Foundation Innovation Award is to support early-stage studies aimed at advancing novel research or therapeutic strategies for SHANK2-related disorders. This pilot funding is intended to support innovative research that can lead to larger grant funding from institutions like the NIH. Applicants should clearly state how results from this pilot study will be leveraged to pursue further funding for larger projects to advance SHANK2 treatments or biological insights. The goal is to support innovative and novel ideas, rather than advancing existing SHANK2 research.
Basic Details:
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:
Briefly, The SHANK2 Foundation is building the SHANK2 Data Collection Program to:
Our goal is to make the process as easy as possible for you.
There is no cost to you or the SHANK2 community.
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:
We are pleased to announce that the SHANK2 phenotyping study conducted with the Seaver Autism Center at Mt Sinai medical center has been officially published. The study can be found here.
As the language in research articles can be quite technical and sometimes difficult to understand, we’ve put together some information help families understand the results in the study.
We are thrilled to announce that the SHANK2 Foundation is collaborating with RARE-X, a non-profit 501(c)(3), to launch a data collection program, sometimes called a patient registry. With your support of inputting information, our community’s data will be part of the best-in-class rare disease data collection portal and ultimately help inform researchers, clinicians, and drug developers across the globe about SHANK2.
This event concluded. Recordings are now available. Request access.
We are excited to announce our new collaboration with BlinkLab on a research study to better understand brain function in SHANK2 disorders. This research study is currently enrolling.
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 complete. The paper has been submitted for publication, but it not yet available. See here for more details on the study.
