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, sparking a passion and love for this community of people. Her experiences led her to study the brain and the developmental processes that give rise to brain functions.
Alex completed her Ph.D. in Neuroscience at the University of Southern California. In her graduate studies, she investigated roles of neurodevelopmental disorder risk genes in cognitive development. She did a postdoctoral fellowship at Children’s Hospital Los Angeles, where she continued research in brain development. She also worked in the public sector as a Science Fellow for the California Council on Science and Technology, where she served in the California’s Governor’s Office of Business and Economic Development to inform decision makers of scientific perspectives. Alex now works as Program Manager for research advancement, development, and information at The Saban Research Institute of Children’s Hospital Los Angeles.
With her scientific, public policy, and research administration expertise, she is committed to continue to support and advocate for the advancement of SHANK2 research and treatment development to improve the quality of life for those affected by SHANK2.
Sam received her B.S. in Animal Sciences at Louisiana State University. There, she worked with individuals with autism spectrum disorder, inspiring her to learn more about how the brain develops. She completed her Ph.D. in Genetics and Molecular Biology from Emory University, where she studied the genetic contributions to brain development and various neurodevelopmental disorders.
Sam now works at the Hydrocephalus Association as a Research Programs Manager. She brings her expertise in biomedical research, grants management, and science outreach to the SHANK2 Foundation to advance research and support families affected by SHANK2 disorders.
As a mom, Michelle realized that her daughter had developmental delays, severe ADHD, autism, and learning disabilities. Exome sequencing showed that her daughter had a pathogenic SHANK2 mutation. As a result, Michelle is passionate about working with the SHANK2 Foundation to raise awareness about SHANK2 disorders and to help advance research related to SHANK2.
Michelle has always been interested in science and biology. She was a HHMI Predoctoral Fellow at Yale University, and she received a PhD in Molecular Microbiology from Yale in 2007. She has been a faculty member at Wesleyan University (CT, USA) since 2009. Specifically, she is a Professor of the Practice in the Biology Department. At Wesleyan, she teaches first-year Principles of Biology lecture and lab courses.
Michelle’s scientific background has positioned her well to be able to understand the science related to SHANK2, to be able to talk with researchers, and to help the SHANK2 Foundation get involved in studies and initiatives that will hopefully benefit SHANK2 patients.
