This is a research initiative and online community that is collecting information on the following genetic changes in single genes associated with developmental delay and features of autism; ACTL6B, ADNP, ANK2, ANKRD11, ARID1B, ASH1L, ASXL3, BAF105, BAF190, BAF35, BCL11A, CHD2, CHD8, CTNNB1, CUL3, DSCAM, DST, DYRK1A, FOXP1, GRIN2B, KATNAL2, KDM5B, KDM6B, KMT2C, KMT2E, MBD5, MED13L, PBRM1, POGZ, PTCHD1, PTEN, REST, SCN2A, SETD5, SMARCC1, SMARCC2, SUV420H1, SYNGAP1, TBR1. Visit simonsvipconnect.org to learn more.
Genetics of Intellectual Disabilities & Autism is a social network that aims at collecting data on the natural history, medical complications, behavioral troubles and responses to treatments for patients affected by genetically determined intellectual disabilities (ID) and/or autism spectrum disorders (ASD), which includes changes in DYRK1A. They will do this by gather information from patients/families and professionals. Visit genida.unistra.fr to learn more,
The University of Washington’s Autism Center is performing a study to better understand the medical, learning, and behavioral features of individuals with genetic changes in the following genes; ADNP, ANK2, ARID1B, CHD1, CHD2, CHD8, CTNNB1, CTTNBP2, DSCAM, DYRK1A, FOXP1, GRIN2B, KDM6B, LARP4B, MBD5, MED13L, NCKAP1, PARD3B, POGZ, PTEN, SCN2A, SETBP1, SETD2, STXBP1, TBL1XR1, TBR1, TCF7L2, WAC, WDFY3, WDR33, ZMYND11. Participants must be 4 years or older and have a change in one of these genes.
Families who are interested in learning more, or would like to participate, can contact the study team:
- Phone: 206-616-2889
- Email: Alanna: firstname.lastname@example.org or General Inquiries: email@example.com
- Website: http://depts.washington.edu/uwautism/research/research-projects/tiger-study/