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Ian D. Krantz, MD
Ian D. Krantz Headshot
Director, Individualized Medical Genetics Center

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.



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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

Attending Physician

Professional Memberships

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-

Professional Awards

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

Publication Highlights

Sheppard S, Biswas S, Li MH, Jayaraman V, Slack I, Romasko EJ, Sasson A, Brunton J, Rajagopalan R, Sarmady M, Abrudan JL, Jairam S, DeChene ET, Ying X, Choi J, Wilkens A, Raible SE, Scarano MI, Santani A, Pennington JW, Luo M, Conlin LK, Devkota B, Dulik MC, Spinner NB, Krantz ID. Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss. Genet Med. 2018 Jun; doi: 10.1038/s41436-018-0004-x. [Epub ahead of print]. PMID: 29907799
Izumi K, Nakato R, Zhang Z, Edmondson AC, Noon S, Dulik MC, Rajagopalan R, Venditti CP, Gripp K, Samanich J, Zackai EH, Deardorff MA, Clark D, Allen JL, Dorsett D, Misulovin Z, Komata M, Bando M, Kaur M, Katou Y, Shirahige K, Krantz ID. Germline Gain-of-Function Mutations in AFF4 Cause a Novel Syndrome and Functionally Link the Super Elongation Complex and Cohesin. Nat Genet. 2015 Apr; 47(4):338-44. PMID: 25730767
Deardorff MA, Bando M, Nakato R, Watrin E, Itoh T, Minamino M, Saitoh K, Komata M, Katou Y, Clark D, Cole KE, De Baere E, Decroos C, Di Donato N, Ernst S, Francey LJ, Gyftodimou Y, Hirashima K, Hullings M, Ishikawa Y, Jaulin C, Kaur M, Kiyono T, Lombardi PM, Magnaghi-Jaulin L, Mortier GR, Nozaki N, Petersen MB, Seimiya H, Siu VM, Suzuki Y, Takagaki K, Wilde JJ, Willems PJ, Prigent C, Gillessen-Kaesbach G, Christianson DW, Kaiser FJ, Jackson LG, Hirota T, Krantz ID, Shirahige K. HDAC8 mutations in Cornelia de Lange syndrome affect the cohesin acetylation cycle. Nature. 2012 Sep; 489(7415):313-7. PMID: 22885700
Krantz ID, McCallum J, DeScipio C, Kaur M, Gillis LA, Yaeger D, Jukofsky L, Wasserman N, Bottani A, Morris CA, Nowaczyk MJM, Toriello H, Bamshad MJ, Carey JC, Rappaport E, Kawauchi S, Lander AD, Calof AL, Li H, Devoto M, Jackson LG. Cornelia de Lange Syndrome is caused by Mutations in NIPBL, the human homolog of the Drosophila Nipped-B gene. Nat Genet. 2004 Jun; 36(6):631-5. Epub 2004 May 16. PMID: 15146186
Li L, Krantz ID, Yu D, Genin A, Banta AB, Collins CC, Ming Q, Trask BJ, Kuo WL, Cochran J, Costa T, Pierpont MEM, Rand EB, Piccoli DA, Hood L, Spinner NB. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat. Genet. 1997 Jul; 16(3):243-51. PMID: 9207788

Links of Interest