Research Areas

Despite many advances in the diagnosis of rare disease, the pathophysiological mechanisms underlying these disorders are poorly understood. Our research goals are targeted toward defining the biochemical mechanisms and molecular pathways impacted in human genetic disease. The genetic analysis of neurodevelopmental disorders complicated by obesity and circadian rhythm defects, including autism, intellectual disability, seizures, and behavioral phenotypes, is a primary focus. This includes the clinical and molecular analysis of genomic conditions, wherein deletion or duplication of a portion of the genome is the primary underlying etiology, leading to altered gene dosage. Disorders include Smith-Magenis syndrome, Potocki-Lupski syndrome, 2q23.1 deletion syndrome, 2q23.1 duplication syndrome, 2q37.3 deletion syndrome, Pitt-Hopkins syndrome, and others. Our goals are to improve diagnosis, enhance understanding of phenotypes, and develop a working knowledge of the molecular relationships among neurodevelopmental disorders toward targeted therapeutics. To further support these studies, we have created and maintain a Smith-Magenis syndrome patient registry.