Sanmati Cuddapah, MD
Associate Professor of Clinical Pediatrics (Human Genetics)
Attending Physician , Children’s Hospital of Philadelphia
Director, Williams Syndrome Clinic, Children's Hospital of Philadelphia, University of Pennsylvania
Clinical Study Staff, Section of Biochemical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia
Director, Medical Genetics Residency Program, Children's Hospital of Philadelphia
Associate Chief of Education and Training, Division of Human Genetics, Children's Hospital of Philadelphia
Department: Pediatrics
Contact information
Children's Hospital of Philadelphia
Division of Human Genetics - 12th Floor
The Hub for Clinical Collaboration
3500 Civic Center Blvd.
Philadelphia, PA 19104
Division of Human Genetics - 12th Floor
The Hub for Clinical Collaboration
3500 Civic Center Blvd.
Philadelphia, PA 19104
Office: 267-426-5756
Fax: 215-590-4297
Fax: 215-590-4297
Email:
cuddapahs@chop.edu
cuddapahs@chop.edu
Education:
BS (Bachelor of Science: Neuroscience, Summa Cum Laude with Honors)
Tulane University, New Orleans, LA, 2006.
BA (Bachelor of Arts: French, Summa Cum Laude with Honors)
Tulane University, New Orleans, LA, 2006.
MD ( Doctor of Medicine)
Emory University School of Medicine, Atlanta, GA, 2010.
Permanent linkBS (Bachelor of Science: Neuroscience, Summa Cum Laude with Honors)
Tulane University, New Orleans, LA, 2006.
BA (Bachelor of Arts: French, Summa Cum Laude with Honors)
Tulane University, New Orleans, LA, 2006.
MD ( Doctor of Medicine)
Emory University School of Medicine, Atlanta, GA, 2010.
Description of Clinical Expertise
Williams Syndrome - Director, CHOP Williams Syndrome ClinicInherited Metabolic Disorders
Description of Other Expertise
Medical EducationSelected Publications
Boerio ML, Engelhardt N, Cuddapah S, Gold JI, Marin IC, Pinard A, Guo D, Prakash SK, Milewicz DM: Further Evidence That ARIH1 Rare Variants Predispose to Thoracic Aortic Disease. Circ Genom Precis Med Page: doi: 10.1161, Nov 2022 Notes: epub ahead of print.Sanmati Rao Cuddapah, Section Editor: Netter's Pediatrics, Section 10: Genetics and Metabolism. Netter's Pediatrics, 2nd Edition. Rebecca Tenney-Soeiro and Erin Pete Devon, Editors (eds.). Elsevier, Page: In press, Nov 2022.
Priestley JRC, Pace LM, Sen K, Aggarwal A, Alves CAPF, Campbell IM, Cuddapah SR, Engelhardt NM, Eskandar M, Jolín García PC, Gropman A, Helbig I, Hong X, Gowda VK, Lusk L, Trapane P, Srinivasan VM, Suwannarat P, Ganetzky RD: Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signatur. Mol Gen Metab Rep Page: doi: 10.1016, Nov 2022 Notes: epub ahead of print.
Katherine M Szigety, Terrence B Crowley, Kimberly B Gaiser, Erin Y Chen, Jessica R C Priestley, Lydia S Williams, Sneha A Rangu, Christina M Wright, Priyanka Adusumalli , Rebecca C Ahrens-Nicklas, Brandon Calderon, Sanmati R Cuddapah, Andrew Edmondson, Can Ficicioglu, Rebecca Ganetzky, Jennifer M Kalish, Ian D Krantz, Donna M McDonald-McGinn, Livija Medne, Colleen Muraresku, Louise C Pyle, Elaine H Zackai, Ian M Campbell, Sarah E Sheppard: Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care. Pediatrics 150(1): e2021054520, Jul 2022.
Alyssa L Ritter, Jessica Gold, Hiroshi Hayashi, Amanda M Ackermann, Stephanie Hanke, Cara Skraban, Sanmati Cuddapah, Elizabeth Bhoj, Dong Li, Yukiko Kuroda, Jessica Wen, Ryojun Takeda, Audrey Bibb, Salima El Chehadeh, Amélie Piton, Jeanine Ohl, Mary K Kukolich, Keisuke Nagasaki, Kohji Kato, Tomoo Ogi, Tricia Bhatti, Pierre Russo, Bryan Krock, Jill R Murrell, Jennifer A Sullivan, Vandana Shashi, Nicholas Stong, Hakon Hakonarson, Kentaro Sawano, Erin Torti, Rebecca Willaert, Yue Si , William Ross Wilcox, Katrine Verena Wirgenes, Kristian Thomassen, Katherine Carlotti, Angelika Erwin , Joanna Lazier , Thorsten Marquardt, Miao He , Andrew C Edmondson, Kosuke Izumi: Expanding the phenotypic spectrum of ARCN1-related syndrome. Genetics in Medicine 24(6): 1227-1237, Jun 2022.
Jessica R.C. Priestley, Lisa M. Pace, Nicole M. Engelhardt, Laina Lusk, Pamela Trapane, Sanmati R. Cuddapah, Ingo Helbig, and Rebecca D. Ganetzky: Malate Dehydrogenase Deficiency: Expanding the Phenotypic Spectrum. Society for Inherited Metabolic Disorders Annual Meeting, Orlando, FL - Poster Presentation 2022.
Jessica I Gold, Arianna Stefanatos, Adeline Vanderver and Sanmati Cuddapah: Novel Treatment of Type II D-2-Hydroxyglutaric Aciduria Using Enasidenib, An IDH2 Inhibitor. Society for Inherited Metabolic Disorders Annual Meeting, Orlando, FL - Poster Presentation 2022.
Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A; SYNaPS Study Group; University of Washington Center for Mendelian Genomics, Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH: Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia. American Journal of Human Genetics 108(12), Dec 2021.
Cuddapah S, Krantz ID: 50 Years Ago in The Journal of Pediatrics: I-Cell Disease: The More Things Change, the More They Stay the Same. Journal of Pediatrics 236: doi: 10.1016, Sep 2021 Notes: epub.
Alanna Strong , Gina O'Grady, Evelyn Shih, Jonathan R Bishop, Kathleen Loomes, Tamir Diamond, Erum A Hartung, William Wong, Sanmati Cuddapah, Anne Marie Cahill, Cuiping Hou, Diana Slater, Courtney Vaccaro, Deborah Watson, Dong Li, Hakon Hakonarson: A new syndrome of moyamoya disease, kidney dysplasia, aminotransferase elevation, and skin disease associated with de novo variants in RNF213. American Journal of Medical Genetics, Part A 185(7), Jul 2021.