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.
Dr. Germiller is an attending surgeon and director of clinical research in the Division of Otolaryngology. His research interests include hearing loss in children, disorders of inner ear and auditory nerve development, cochlear implantation, congenital abnormalities, and genetics of hearing disorders.
The Krantz lab focuses on identifying molecular etiologies of multisystem developmental diagnoses, structural birth defects, and intellectual disability. Using cellular and animal models, the investigators study newly identified genes towards identification of therapeutic targets. The lab is at the forefront of adapting new genomic technologies to the clinical setting and studying the impact on the clinicians and families involved.
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.
Every day, we learn about the exciting new ways our investigators and staff at Children's Hospital of Philadelphia modernize medicine and revolutionize healthcare for children. This week, we're thrilled to report on a handful of new headlines about those breakthroughs, including a data-driven collaboration led by CHOP that aims to uncover the ties between cancer and birth defects through cloud-sharing