To improve the quality of life for individuals affected by SHANK2 disorders
The SHANK2 Foundation will bring together all individuals affected by SHANK2 variants–including carriers, families, researchers, clinicians, and industry partners. By establishing a comprehensive database of individuals carrying pathogenic SHANK2 variants, we will support research efforts to study the gene and develop treatments. Additionally, we will raise awareness about SHANK2 and its role in Intellectual Disability (IDD) and Autism Spectrum Disorder (ASD) and provide a forum where families connect and support one another.
The SHANK2 Foundation is a 501(c)(3) non-profit organization founded by two parents of children carrying pathogenic SHANK2 variants. To varying degrees, our children are affected by IDD and ASD as well as gross and fine motor deficiencies and mental health issues.
Polly Appel and her husband, Peter, searched for over two decades to find the cause of Jarret’s disabilities. Soon after they learned that Jarret, the youngest of their three sons, has two inherited and one de novo SHANK2 variants, they began a collaboration with Dr. Guoping Feng and his team at the MIT McGovern Institute who are at the cutting edge of SHANK2 research. The scientists are currently conducting biochemical, electrophysiological and behavioral analyses on “Jarret” mice with the hopes that the results will lead to treatments for individuals with pathogenic SHANK2 variants.
Polly’s educational experience aligns well with the mission of the SHANK2 Foundation. Her undergraduate and graduate business degrees from the Wharton School at the University of Pennsylvania and the Kellogg Graduate School of Management at Northwestern University, respectively, have prepared her to help establish an organization to serve the SHANK2 community and build awareness of the role SHANK2 plays in IDD and ASD. Her graduate studies in the Human Genetics program at Sarah Lawrence College have equipped her to analyze and interpret the latest research on SHANK2, and her Masters of Social Work from Columbia University has trained her to facilitate and promote conversations and connections between and among members of the SHANK2 community.
Ben’s son was diagnosed at a young age with autism spectrum disorder caused by a de novo SHANK2 variant. His motivation in helping found the SHANK2 foundation is to assist individuals with pathological SHANK2 variants get the help they need to reach their full potential. This means interacting with researchers, clinicians, and families to work together toward effective therapies for affected individuals.
Ben’s academic experience provides an understanding of the research, publication, and grant funding processes providing common ground for discussions with researchers. Ben completed a Ph.D. in mathematics from Brown University and is currently a tenured professor of mathematics at Saint Louis University. He has published numerous research articles in mathematics and computation as well as an undergraduate textbook on number theory. His research has been funded by the National Science Foundation and he has organized many sponsored workshops and conferences. His mathematics and computation background is ideal for analyzing data gathered through our registry.
As a teenager and young adult, Alex worked with children and adults with neurodevelopmental disorders. Her experiences sparked her interest in studying the brain and the developmental processes that give rise to brain functions.
Alex received a B.S. in neuroscience from the University of Miami and is completing her Ph.D. in neuroscience at the University of Southern California. In her graduate studies, she is investigating biological mechanisms that contribute to typical development of cognitive functions. Identifying the biological processes that occur during development and shape lifelong cognitive abilities will lead to a better understanding of how deficits seen in neurodevelopment disorders may arise. Her research focuses on the MET gene, which codes for a protein involved in synapse development in the cortex. Mutations in the gene increase the risk of autism spectrum disorder. Interestingly, MET binds with SHANK3 and indirectly interacts with SHANK2.
Alex is well suited to support the SHANK2 Foundation’s objective of accelerating research and treatment developments for individuals affected by pathogenic SHANK2 variants. Her academic and clinical experiences have prepared her to identify and analyze areas of research critical to finding treatments for SHANK2 disorders.
