Our Role In Research

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:

  • To help identify common characteristics associated with SHANK2 disorders 
  • To bridge the gap between patients and researchers
  • To disseminate information about advances in research to the community

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 the Phenotyping Study. 

The SHANK2 Patient Registry

A patient registry is used to collect comprehensive information about a group of individuals with a particular disease for future analysis. The SHANK2 Patient Registry will help advance the scientific study of SHANK2 by providing researchers with a comprehensive database of family-reported information relating to such things as a patient’s developmental, behavioral and health history.

As our registry grows we will share summarized statistics with the community. This information may be useful to:

  • Understand your child’s condition
  • Obtain support services for your child

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 registry.

The SHANK2 Phenotyping Study

Phenotyping studies are done to collect information about individuals to better understand the characteristics of a disease and how diseases progress over time. We are partnering 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 will undergo 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. There is no cost to enroll and a clinical report will be returned to each family, summarizing the findings of the assessment results for their child.

According to top researchers studying SHANK2, a phenotyping study will produce valuable information needed to:

  • Understand the range and variability of presenting symptoms to inform clinical trials
  • Establish baseline characteristics needed to measure changes occurring in clinical trials
  • Support the inclusion of SHANK2 genes in sequencing panels

Assessments will be done via video conferencing or in person in New York.

If you are interested in participating, contact Tess Levy: tess.levy@mssm.edu

Resources for Researchers

The SHANK2 Registry is a patient data repository accessible to researchers studying the pathology of disease-causing SHANK2 variants. Please contact the registry coordinator to discuss potential research projects and patient recruitment.