Krantz Laboratory

The Krantz research lab focuses on identifying and characterizing the molecular etiology of syndromic and non-syndromic developmental disorders, birth differences, and intellectual disability, and assesses the genomic implications of the genes and pathways perturbed in these diagnoses. Some of the diagnoses studied, and for which novel gene discoveries have been made, include Cornelia de Lange Syndrome (CdLS), CHOPS syndrome, Pallister-Killian Syndrome (PKS), Alagille syndrome, hearing loss, congenital diaphragmatic hernias, and congenital heart defects.

Novel disease gene discovery have led to the characterization of novel human disorders and has implicated many critical molecular pathways, such as Notch Signaling, Cohesin and the Super Elongation Complex, in human developmental disorders for the first time. The lab uses cellular and animal models to understand the functional consequences of disruption of these genes and the pathways towards identifying potential therapeutic approaches to improving outcomes for the affected individuals. The Krantz lab has also been at the forefront of adapting new genomic technologies to the clinical setting and studying how this evolving, complex and often unclear diagnostic information is understood by, and the impact it has on, the clinicians and families involved.

Project Highlights

• Molecular etiology of Cornelia de Lange Syndrome (CdLS) and Related Diagnoses –identification of novel cohesin-related genes contributing to the etiology of this diagnosis.
• Molecular characterization of Pallister-Killian syndrome (PKS) – understanding the global transcriptional dysregulation seen in this mosaic chromosomal disorder.
• Molecular etiology of Congenital Diaphragmatic Hernias (CDH) – extrapolating the broad scale genomic data generated b the CdLS and PKS studies (syndromic forms of CDH) to help elucidate etiologies of isolated CDHs.
• Genomics of Hearing Loss (HL) – applying genomics to the clinical care of children with HL to identify novel genes, improve care and identify therapeutic targets.
• Genomic integration into routine pediatric health care – using research approaches to identify best practices to integrate genomic data into routine health care.