Dr. Deardorff’s work integrates patient information with genomics and cell biology to diagnosis and understand rare genetic disease. His research focuses on disorders caused by dysregulation of chromatin or altered translational regulation, specifically, Cornelia de Lange, Coffin-Siris, Skraban-Deardorff and KBG syndromes.
Providing state-of–the-art, individualized clinical support to children and families undertaking genetic and genomic testing. Offering interpretative and educational support to clinicians pursuing this testing for their patients. Facilitating the use of this rich phenotypic and genomic information to advance the research mission at Children’s Hospital of Philadelphia.