Uncovering genetic factors in autism, related disorders
The current rate of autism spectrum disorder (ASD) diagnoses in children is about 3.2% (1 in 31), according to the Centers for Disease Control and Prevention. Up to 90% of the risk for ASD can be attributed to genetic factors, said neurogeneticist Maria Chahrour, Ph.D., Associate Professor in the Eugene McDermott Center for Human Growth and Development and of Neuroscience and Psychiatry, who arrived at UTSW the year OBI launched. The Chahrour Lab has made autism and related neurodevelopmental conditions the focus of its impactful research, working to identify autism genes using whole exome sequencing (WES), uncovering their regulatory mechanisms, and studying their functions in the brain.
She and her colleagues have conducted research involving more than 3,000 participants across the autism spectrum, exploring how genetics relate to individual traits, with a goal to improve diagnostics and design targeted therapies for autism.
Peter Tsai, M.D., Ph.D., Associate Professor of Neurology, Neuroscience, Pediatrics, and Psychiatry, and colleagues in the Tsai Lab have uncovered contributions of cerebellar circuits to neurodevelopmental challenges relevant to autism and are investigating the potential for neuromodulation of these cerebellar circuits for clinical benefit.
Kimberly Huber, Ph.D., Professor of Neuroscience, and colleagues in the Huber Lab focus on understanding the impact of autism-linked genes on brain development and function. Their research has identified key molecular and cellular mechanisms responsible for the hyperexcitability of sensory circuits in preclinical models of Fragile X Syndrome and PTEN hamartoma tumor syndrome (PHTS). This foundational work has enabled development of pharmacological treatments that have improved sensory circuit function in animal models. To bridge the gap from preclinical findings to clinical application, Dr. Huber is involved with an NIH Collaborative Center in Fragile X Research.