Our Research & Mission
Our mission is to understand the phenotypic spectrum, natural history, and molecular mechanism of two rare genetic disorders: 3q29 deletion syndrome and 3q29 duplication syndrome.
3q29 deletion syndrome affects 1 in 30,000 individuals and is associated with cognitive disability, autism spectrum disorder, visual-motor integration deficits, executive function deficits, ADHD, anxiety, and an astonishing 40-fold increase risk for schizophrenia. 3q29 duplication syndrome is associated with developmental delay, autism, and seizures. By studying these disorders, we hope to accomplish twin goals: Improve the lives of people with these rare syndromes, and understand how genetic risk factors influence the development of complex conditions like autism and schizophrenia.
Our team uses a variety of methods including human cellular models, CRISPR engineered mouse models, and clinical phenotyping studies in our research. We are grateful to have the opportunity to collaborate with the 3q29 deletion and 3q29 duplication communities as we advance this work.