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:
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, and this is one of the best ways you can help advance SHANK2 research.
Join our Data Collection Program (Patient Registry) today!
View this recording to learn more or email ben@shank2.org with any questions.
The SHANK2 Foundation Innovation Grant was created to support early-stage studies aimed at advancing novel research or therapeutic strategies for SHANK2-related disorders. This award provides critical seed funding for researchers to turn their visionary idea into an impactful project. The recipient of the 2025 SHANK2 Innovation Grant is Aaron Kuan, PhD, Assistant Professor of Neuroscience and Biomedical Engineering at Yale University.
Project Title: A Novel Pan-Expansion Microscopy Approach to Bridge Molecular Alterations and Circuit-level Dysfunction Underlying SHANK2-Related Disorders
Dr. Kuan’s research project aims to better understand how mutations in SHANK2 affect the brain, including at the synapses, which are tiny structures where neurons pass signals between each other. When these connections don’t form or function properly, the brain’s ability to process information can be impaired, affecting learning, memory, and behavior.
To study this, Dr. Kuan’s team is using a new and advanced imaging technique called pan-Expansion Microscopy (pan-ExM). This cutting-edge method allows for a zoomed in visualization of incredibly small structures in the brain that were previously too small to study in detail. With this powerful tool, the effect of SHANK2 mutations in the brain can be determined at a molecular level.
Ultimately, the goal of this project is to create detailed maps that show how SHANK2 mutations change brain structure and function. These insights could lead to the discovery of new biomarkers and therapeutic targets to better diagnose and treat SHANK2-related disorders. By understanding what is structurally different in the brain due to these mutations, researchers can begin to explore strategies to overcome these differences.
The Fifth annual SHANK2 Day conference on November 9, 2025 is complete and access to the recordings can be requested here.
Our next SHANK2 Day will take place in Fall 2026. Sign up for our newsletter to stay up-to-date on announcements.
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 to help families understand the results in the study.
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.
