In This Section
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. Krantz is a pediatrician and medical geneticist. He is the director of the Roberts Individualized Medical Genetics Center (RIMGC), the Center for Cornelia de Lange Syndrome and Related Diagnoses, and the Medical Genetics Training Program at Children’s Hospital of Philadelphia. He is also the medical director of the Genetic Counseling Program at Arcadia University.
His research interests are focused on identifying and characterizing the molecular etiology of syndromic and nonsyndromic developmental disorders and assessing the genomic implications of the genes and pathways perturbed in these diagnoses. His research lab has focused on projects studying the molecular etiologies of Cornelia de Lange Syndrome, CHOPS syndrome, Pallister-Killian Syndrome, Alagille syndrome, hearing loss, congenital diaphragmatic hernias, and congenital heart defects.
Toward this end, his lab has identified many new disease genes, novel human disorders and implicated many critical molecular pathways, such as Notch signaling, cohesin and the super elongation complex, in human developmental disorders for the first time. Clinically, he has been at the forefront of adapting new genomic technologies in 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.
Notable career accomplishments:
- Disease gene identification in Alagille syndrome, Cornelia de Lange syndrome, CHOPS syndrome and others
- Establishment of the RIMGC at CHOP
- Establishment of the Center for Cornelia de Lange Syndrome and Related Diagnoses at CHOP
- Editor of Gorlin’s Syndromes of the Head and Neck (Oxford University Press)
Education and Training
BFA, Concordia University (Fine Arts), 1984
MD, Sackler School of Medicine, 1991
Titles and Academic Titles
Director, Individualized Medical Genetics Center
Professor of Pediatrics; Professor of Genetics
Distinguished Chair in the Department of Pediatrics
Director, Center for Cornelia de Lange Syndrome and Related Diagnoses
American Society of Human Genetics, 1994-
American Academy of Pediatrics, 1994-
Alagille Syndrome Alliance, 1996-
Cornelia de Lange National Foundation, 1999-
Society for Pediatric Research, 2003-
Pallister Killian Syndrome Family Support Group, 2006-
Klaus and Mary Hummler Endowed Research Prize, 1999
MAPS Scholar, Children's Hospital of Philadelphia, 1999
Ethel Brown Foerderer Fund for Excellence, 1999
Sue Anthony Award, the Cornelia de Lange Syndrome Foundation, 2004
The Gary "Reid" McDaniel Memorial Lecture Award, 2005
The Dean's Award for Excellence in Basic Science Teaching, Perelman School of Medicine at the University of Pennsylvania, 2005
Cornelia de Lange Syndrome Clinical and Research Center of Excellence (Awarded to CHOP), 2008
National Organization of Rare Disorders (NORD) – nominated to Hall of Fame, 2009