Results for Genetic Disorders

Dr. Krantz's lab identifies and characterizes the molecular etiology of syndromic and non-syndromic developmental disorders. He has identified genes for several genetic conditions (Cornelia de Lange Syndrome, CHOPS syndrome, Alagille syndrome, hearing loss) implicating critical molecular pathways in human disorders for the first time. He has been at the forefront of studying the integration of genomics into clinical settings.

As director of Clinical Laboratories, Strategic Partnerships and Innovation at the Center for Applied Genomics, Dr. Santani oversees the clinical genomics program for the diagnosis of common and rare genetic disorders.

Dr. Bhoj's genetics research aims to discover new human disease genes, their mechanisms, and potential targeted therapies. In addition to ongoing gene discovery efforts, Dr. Bhoj focuses on three novel genes that lead to pediatric neurologic dysfunction: TBC1 domain-containing kinase, Histone 3.3 (H3F3A and H3F3B), and MAP4K4.

Dr. Spinner's research focuses on the etiology and expressivity of pediatric developmental disorders. She uses genomic methods to focus on the multisystem disorder Alagille syndrome and biliary atresia, a likely heterogeneous and poorly understood condition. She is also interested in using genomic tools to continue to improve diagnostic rates for constitutional genetic disorders.

Dr. Gonzalez-Alegre's long-range research goal is to advance the application of precision medicine in the neurology clinic. His research focus revolves around genetic disorders that affect the brain, spanning from the diagnosis of novel genetic disease in the clinic to the identification of novel molecular targets using disease models and the design of early-phase human clinical trials.

Dr. Grant uses high-throughput genotyping and sequencing technologies, combined with statistical and bioinformatic approaches, to unravel genomic puzzles related to multiple common complex traits.

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.

Dr. Ahrens-Nicklas works to understand why patients with inherited biochemical disorders often suffer severe, untreatable neurologic and cardiac symptoms. She strives to elucidate the link between biochemistry and network excitability, in order to drive new approaches to therapy.

Dr. Kalish's research focuses on understanding the molecular and epigenetic mechanisms that contribute to the predisposition to cancer that is characteristic of pediatric patients with rare imprinted gene disorders, including the overgrowth disorder Beckwith-Wiedemann syndrome (BWS).