Bryen Jordan, Ph.D., and colleagues recently identified patients around the world who have inherited a haploinsufficiency of the gene ANKS1B (i.e., one copy of the gene is inactive or deleted). The ANKS1B gene codes for the brain-specific protein AIDA-1, one of the most abundant proteins found at neural synapses. The researchers have linked ANKS1B insufficiency to a neurodevelopmental syndrome they have called AnkSyd, which is characterized by problems including autism and speech and motor deficits. The NIH has awarded Dr. Jordan a five-year, $2.2 million grant to study ANKS1B’s role in normal brain activity and how the gene’s dysfunction leads to AnkSyd syndrome.

Dr. Jordan’s team has already generated induced pluripotent stem cells and neurons from patients and unaffected family members as well as a transgenic mouse model of AnkSyd. By studying those human-derived neurons and their animal model, the researchers hope to discover the molecular mechanisms underlying AnkSyd and to identify possible treatments for the syndrome.

Dr. Jordan is an associate professor in the Dominick P. Purpura Department of Neuroscience and of psychiatry and behavioral sciences at Einstein. (1 R01 NS118820-01)