CALLING ALL SHANK2 FAMILIES:
Research is essential to understand the role SHANK2 variants play in autism spectrum disorder (ASD), intellectual and developmental disability (IDD), and other developmental and mental health disorders. But given how rare SHANK2 variants are, scientists need our help in providing them with information. By registering our children with the SHANK2 Patient Registry, we can contribute to the database of affected individuals and help make progress in the development of treatments for SHANK2 disorders. Registering your child is free.
Probably Genetic is a group of geneticists, engineers, and patients seeking to help people with rare diseases access genetic testing. The company has recently launched a no-cost genetic testing program for people with seizure or developmental delay-related disorders. Eligible individuals can receive whole exome sequencing at no cost. This testing analyzes all of the protein-coding regions of your DNA for disease-causing mutations.
Eligibility
To participate, candidates must reside in the United States. Eligibility for the program is determined by a brief, easy-to-understand online quiz. Care partners, friends, or family members are encouraged to submit on behalf of their loved one if their loved one cannot complete the Symptom Checker without assistance.
How it works
The SHANK2 Foundation is partnering with the world renowned Seaver Autism Center in New York City to do a phenotyping study of individuals with SHANK2 disorders. Phenotyping studies are done to collect information about individuals to better understand how diseases affect them. 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 participate and the study is currently enrolling. Participation is done remotely through video calls. A report of your child’s assessment results will be returned to you upon completion of the study.
The meeting will run from 9:00am until 2:00pm Eastern Standard Time, and will be held virtually. Schedule details will be sent out later this fall.
