Sanmati R. Cuddapah, MD

Dr. Cuddapah is a Clinical Geneticist who specializes in the diagnosis and management of genetic and metabolic disorders. She worked at the Children's Hospital of Philadelphia for 9 years, where saw patients with metabolic disorders and served as Director of the Williams Syndrome Clinic. She is active in medical education and enjoys teaching students and residents about genetics. Dr. Cuddapah joined the faculty at Baylor College of Medicine/Texas Children's in 2024 and looks forward to caring for patients in Texas.

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I am passionate about high-quality clinical care and pride myself on spending time with my patients and their families. I work with them to provide a collaborative approach to genetic testing, care coordination and disease management. I enjoy teaching and advocating on behalf of my patients with rare disorders.

Intereses Clinicos

Inherited Metabolic Disorders, Williams Syndrome

Educacion

Organizaciones

Board Certifications

American Board of Genetics and Genomics

American Board of Pediatrics

American College of Medical Genetics and Genomics, Fellow

Honors and awards

2023-2024

Mentor of the Year Award, Division of Human Genetics, Children’s Hospital of Philadelphia

2021-2022

Physician Leadership Program, Children's Hospital of Philadelphia 

* Texas Children’s Hospital physicians’ licenses and credentials are reviewed prior to practicing at any of our facilities. Sections titled From the Doctor, Professional Organizations and Publications were provided by the physician’s office and were not verified by Texas Children’s Hospital.

Research interests

Collaborative Registry for Williams Syndrome (CReWS)

Gold JI, Stefanatos AK, Fraser JL, Vanderver A, Cuddapah S. Enasidenib-induced hepatitis in an individual with Type II D2-hydroxyglutaric aciduria. JIMD Reports, 2024 Apr 16;65(3):156-162. doi: 10.1002/jmd2.12421. PMID: 38736636; PMCID: PMC11078709

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 signature. Molecular Genetics and Metabolism Report, 2022 Nov 16;33:100931. doi: 10.1016/j.ymgmr.2022.100931. PMID: 36420423; PMCID: PMC9676216

Ritter AL, Gold J, Hayashi H, Ackermann AM, Hanke S, Skraban C, Cuddapah S, Bhoj E, Li D, Kuroda Y, Wen J, Takeda R, Bibb A, El Chehadeh S, Piton A, Ohl J, Kukolich MK, Nagasaki K, Kato K, Ogi T, Bhatti T, Russo P, Krock B, Murrell JR, Sullivan JA, Shashi V, Stong N, Hakonarson H, Sawano K, Torti E, Willaert R, Si Y, Wilcox WR, Wirgenes KV, Thomassen K, Carlotti K, Erwin A, Lazier J, Marquardt T, He M, Edmondson AC, Izumi K. Expanding the phenotypic spectrum of ARCN1-related syndrome. Genetics in Medicine, 2022 Jun;24(6):1227-1237. doi: 10.1016/j.gim.2022.02.005. Epub 2022 Mar 14. PMID: 35300924; PMCID: PMC9923403

Szigety KM, Crowley TB, Gaiser KB, Chen EY, Priestley JRC, Williams LS, Rangu SA, Wright CM, Adusumalli P, Ahrens-Nicklas RC, Calderon B, Cuddapah SR, Edmondson A, Ficicioglu C, Ganetzky R, Kalish JM, Krantz ID, McDonald-McGinn DM, Medne L, Muraresku C, Pyle LC, Zackai EH, Campbell IM, Sheppard SE. Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care. Pediatrics, 2022 Jul 1;150(1):e2021054520. doi: 10.1542/peds.2021-054520. PMID: 35642503; PMCID: PMC9724118

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, 2021 Dec 2;108(12):2368-2384. doi: 10.1016/j.ajhg.2021.11.003. Epub 2021 Nov 19. PMID: 34800363; PMCID: PMC8715183

Ficicioglu C, Ahrens-Nicklas RC, Barch J, Cuddapah SR, DiBoscio BS, DiPerna JC, Gordon PL, Henderson N, Menello C, Luongo N, Ortiz D, Xiao R. Newborn Screening for Pompe Disease: Pennsylvania Experience. International Journal of Neonatal Screening, 2020 Nov 13;6(4):89. doi: 10.3390/ijns6040089. PMID: 33202836; PMCID: PMC7712483

Dowsett L, Lulis L, Ficicioglu C, Cuddapah S. Utility of Genetic Testing for Confirmation of Abnormal Newborn Screening in Disorders of Long-Chain Fatty Acids: A Missed Case of Carnitine Palmitoyltransferase 1A (CPT1A) Deficiency. International Journal of Neonatal Screening, 2017 Jun;3(2):10. doi: 10.3390/ijns3020010. Epub 2017 Apr 28. PMID: 28748224; PMCID: PMC5523953