Dr. Deepa Rajan

Biography

Deepa S. Rajan, MD, is an Associate Professor of Pediatrics at the University of Pittsburgh School of Medicine (UPSOM). She received her medical education from Bangalore Medical College and Research Institute, India and completed training in Pediatrics at Children’s Hospital of Michigan. She then completed training in Child Neurology at Children’s Hospital of Pittsburgh and stayed on as faculty within the Division of Child Neurology in 2013. Dr. Rajan is certified through the ABP in Pediatrics, through the ABPN in Neurology with Special Qualifications in Child Neurology and Epilepsy.

Dr. Rajan established and directs The Neurogenetics Program at the Children’s Hospital of Pittsburgh which aimed to harness novel genetic technology for the diagnosis and care of patients with undiagnosed neurological diseases. She took over the Program for Neurodevelopment in rare disease as clinical director in 2022. In 2023, the programs were merged under the larger umbrella of the UPMC Children’s Center for NeuroGenomics (CCNG), which she now directs. The CCNG includes a clinical diagnostic program, a center of excellence in leukodystrophies and neurodegenerative diseases—establishing natural history and identifying novel therapeutic strategies for children with rare neurological disorders, a translational research program in rare neurodegenerative diseases and a training program for multidisciplinary learners. Dr. Rajan has particular expertise in neurodegenerative diseases, including Krabbe disease, Metachromatic leukodystrophy, Adrenoleukodystrophy etc and neurodegenerative mucopolysaccharidoses. She is currently principal Investigator in a number of clinical trials including gene therapy trials for neurodegenerative rare diseases.

Dr. Rajan has an active role in medical student and neurology resident teaching in the Department of Pediatrics. She is currently funded through foundation grants for projects in new gene discovery in GEMIN5 gene and Localized Scleroderma. She completed her term as the Chair of the Neurogenetics Section of the American Academy of Neurology and continues to be actively involved in multiple national organizations.

Her recognitions include the Shelden Brenner Research Award in 2010, Sanford N. Cohen Award for Outstanding Graduating Resident (2010) and the Bonita F. Stanton Professionalism in Pediatrics Award (2010).

Education & Training

• MBBS | Bangalore Medical College, Rajiv Gandhi University of Health Sciences, 2005
• Rotatory Internship | Bangalore Medical College and Research Institute, 2004-2005
• Residency in Pediatrics | Children's Hospital of Michigan-Wayne State University, 2007-2010
• Residency in Child Neurology | UPMC Children's Hospital of Pittsburgh, 2010-2013

Professional & Scientific Memberships

• American Academy of Pediatrics, 2010-Present
• American Academy of Neurology, 2010-Present
• Child Neurology Society, 2010-Present
• American Epilepsy Society, 2016-Present
• International Child Neurology Association, 2017-Present
• American College of Medical Genetics and Genomics, 2020-Present
• Advisory Board, Network for Excellence in Neuroscience Clinical Trials, 2021-Present
• Neurogenetics Section American Academy of Neurology, 2022-Present

Selected Publications

• Fortuna TR, Kour S, Chimata AV, Muiños-Bühl A, Anderson EN, Nelson Iv CH, Ward C, Chauhan O, O'Brien C, Rajasundaram D, Rajan DS, Wirth B, Singh A, Pandey UB. SMN regulates GEMIN5 expression and acts as a modifier of GEMIN5-mediated neurodegeneration. Acta Neuropathol. 2023 Sep;146(3):477-498. doi: 10.1007/s00401-023-02607-8. Epub 2023 Jun 27. PMID: 37369805.
• Malik D, Simon DW, Thakkar K, Rajan DS, Kernan KF. Genetic variation in genes of inborn errors of immunity in children with unexplained encephalitis. Genes Immun. 2022 Nov;23(7):235-239. doi: 10.1038/s41435-022-00185-5. Epub 2022 Oct 5. PMID: 36198812; PMCID: PMC9533258
• Altassan R, Qudair A, Alokaili R, Alhasan K, Faqeih EA, Alhashem A, Alowain M, Alsayed M, Rahbeeni Z, Albadi L, Alkuraya FS, Anderson EN, Rajan D, Pandey UB. Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome. Am J Med Genet A. 2022 Oct;188(10):2932-2940. doi: 10.1002/ajmg.a.62894. Epub 2022 Jul 21. PMID: 35861185.
• Francisco-Velilla R, Embarc-Buh A, Del Caño-Ochoa F, Abellan S, Vilar M, Alvarez S, Fernandez-Jaen A, Kour S, Rajan DS, Pandey UB, Ramón-Maiques S, Martinez-Salas E. Functional and structural deficiencies of Gemin5 variants associated with neurological disorders. Life Sci Alliance. 2022 Apr 7;5(7):e202201403. doi: 10.26508/lsa.202201403. PMID: 35393353.
• Rajan DS, Kour S, Fortuna TR, Cousin MA, Barnett SS, Niu Z, Babovic-Vuksanovic D, Klee EW, Kirmse B, Innes M, Rydning SL, Selmer KK, Vigeland MD, Erichsen AK, Nemeth AH, Millan F, DeVile C, Fawcett K, Legendre A, Sims D, Schnekenberg RP, Burglen L, Mercier S, Bakhtiari S, Martinez-Salas E, Wigby K, Lenberg J, Friedman JR, Kruer MC, Pandey UB. Autosomal Recessive Cerebellar Atrophy and Spastic Ataxia in Patients With Pathogenic Biallelic Variants in GEMIN5. Front Cell Dev Biol. 2022 Feb 28;10:783762. doi: 10.3389/fcell.2022.783762. PMID: 35295849.
• Kour S*, Rajan DS*(equal contribution), Fortuna TR, Andersen EN, Ward C, Lee Y, Lee S, Shin YB, Chae JH, Choi M, Siquier K, Cantagrel V, Amiel J, Stolerman ES, Barnett SS, Cousin MA, Castro D, McDonald K, Kirmse B, Nemeth AH, Rajasundaram D, Innes AM, Lynch D, Frosk P, Collins A, Gibbons M, Yang M, Desquerre I, Boddaert N, Gitiaux C, Rydning SL, Selmer KK, Urreizti R, Garcia-Oguiza A, Osorio AN, Verdura E, Pujol A, McCurry HR, Landers JE, Agnihotri S, Andriescu EC, Moody SB, Phornphutkul C, Sacato MJG, Begtrup A, Houlden H, Kirschner J, Scholrling D, Rudnik-Schoneborn S, Strom TM, Leiz S, Juliette K, Richardson R, Yang Y, Zhang Y, Wang M, Wang J, Wang X, Platzer K, Donkervoort S, Bonnemann CG, Wagner M, Issa MY, Elbendary HM, Stanley V, Maroofian R, Gleeson JG, Zaki MS, Senderek J, Pandey UB. Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder. Nat Commun. 2021 May 7; 12(1):2558. doi: 10.1038/s41467-021-22627-w. PMID: 33963192.
• Smith SE, Gannotti M, Hurvitz EA, Jensen FE, Krach LE, Kruer MC, Msall ME, Noritz G, Rajan DS, Aravamuthan BR. Adults with cerebral palsy require ongoing neurologic care: A systematic review. Ann Neurol. 2021 Feb 7. doi: 10.1002/ana.26040. Epub ahead of print. PMID: 33550625.