3q29 Syndromes

Our research in 3q29 duplication and deletion syndromes

3q29 deletion syndrome affects 1 in 30,000 individuals and is associated with cognitive disability, autism spectrum disorder, fine motor weakness, 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 mission is to understand the history and biology of how two rare genetic disorders present.

For more information on our work with 3q29 and how to participate, visit the Mulle lab’s home page.