Description of Research Expertise

My research lab is focused on elucidating the molecular etiologies of syndromic and non-syndromic human developmental disorders and birth defects. Towards this end we have major projects focused on: 1) understanding the genome-wide implications of alterations in the cohesin complex and its regulation in causing the phenotypic differences seen in Cornelia de Lange Syndrome (CdLS), 2) Characterizing the effects on genome-wide expression in the Pallister-Killian Syndrome (PKS) and defining a minimal critical region on chromosome 12p, 3) Identification of novel genes for non-syndromic sensorineural hearing loss through broad scale genomic analyses and 4) Identifying genomic contributors to syndromic and non-syndromic forms of congenital diaphragmatic hernias (CDHs). 5) Identifying genomic contributors to syndromic and non-syndromic forms of esophageal atresia (EA).
In addition we are studying the issues centered around the introduction of genomic (and other omic) technologies into pediatric practice and how to establish best practice guidelines.

Description of Clinical Expertise

As a pediatrician and clinical geneticist, my clinical interests are mainly focused on dysmorphology and pediatric genetic disorders. While I see children with any findings suggestive of an underlying genetic etiology, I also have multispecialty clinics for children with several of the diagnoses that we have targeted research interest in such as Alagille syndrome, Cornelia de Lange syndrome (CdLS), Pallister Killian syndrome (PKS), CHOPS syndrome and related diagnoses. We have been able to establish an endowed Center for Cornelia de Lange Syndrome and Related Diagnoses to better care for children with complex developmental diagnoses and to forward efforts in clinical and basic science research to expedite the development of therapeutics. I have established and Direct the Roberts Individualized Medical Genetics Center (RIMGC) here at CHOP that is charged with facilitating genomic diagnostics across the CHOP enterprise and leverage the clinical and genome information (and sample metadata) for research purposes by all investigators at CHOP under a broad IRB protocol. I also run a dedicated Genetics of Hearing Loss clinic and multi-specialty clinics in CdLS, PKS and Kabuki syndrome.