Research is essential to better understand the role of SHANK2 in brain function and to develop treatments to improve the lives of those affected by SHANK2 disorders. The SHANK2 Foundation’s role in this process is threefold:
Currently SHANK2 research is limited by a scarcity of data on affected individuals because so few have been identified. As a community, we can change this by enrolling our children in the Patient Registry and research studies.
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 Foundation is partnering with RARE-X, a 501(c)(3) nonprofit, to build a Data Collection Program for SHANK2 families, sometimes called a patient registry. When you participate in the Data Collection Program, you will help accelerate research and the development of new drugs, devices, and other therapies.
Researchers can request access to de-identified data directly from RARE-X:
As our registry grows we will share summarized statistics with the community. This information may be useful to:
The information you supply is protected by strict privacy policies and you retain control over your child’s data. For any questions and concerns about what data is collected and how it is used, contact the registry coordinator. There is no cost to join the Data Collection Program.
Phenotyping studies are done to collect information about individuals to better understand the characteristics of a disease and how diseases progress over time. We partnered with the world renowned Seaver Autism Center in New York City to conduct the first phenotyping study of individuals with SHANK2 disorders. Participants in the study underwent a common assessment and the findings will be used to build an archive of physical and behavioral characteristics associated with SHANK2 disorders for use in future research. This study is complete and the publication is available here.
According to top researchers studying SHANK2, a phenotyping study will produce valuable information needed to:
The SHANK2 Data Collection Program is a patient data repository accessible to researchers studying the pathology of disease-causing SHANK2 variants. Please contact RARE-X to register for access to de-identified data. The Foundation can also work with researchers to discuss potential research projects and patient recruitment. Please contact the registry coordinator for assistance.