Dr Neerja Gupta (MD Pediatrics, DM Medical Genetics) is the Additional Professor, Division of Genetics, Department of Pediatrics at the All India Institute of Medical Sciences, New Delhi. She has been honored with the Dr. IC Verma Outstanding Researcher Award 2024 and the 8th Dr. I.C. Verma Excellence in Research Award for Young Pediatricians 2020, and is the recipient of the Clinical Genetics Society Fellowship (UK, 2012). Dr Gupta serves as the nodal officer for the Centre of Excellence on Rare Disorders at AIIMS, New Delhi under MoHFW (2022) and is the Coordinator for the Quality Assurance WHO Birth Defect Surveillance Program across SEAR. She is also a member of the Undiagnosed Disease Network (NIH), the Secretary of the Society of Indian Academy of Medical Genetics (2024–2026), and the Treasurer of the Indian Society of Inborn Errors of Metabolism (2024–2026). Her contributions extend to working with the Burden of Birth Defects Technical Working Group, serving as a panel expert for the Global Network for Rare Diseases Update (2021–2022), and contributing to the development of the online educational tool GENETOP, SIAMG. Her research interests include inherited metabolic disorders, lysosomal storage disorders, genomics of intellectual disability, skeletal dysplasia, arthrogryposis, dysmorphic syndromes, and fetal autopsy, and she has authored over 212 publications.

Articles By : Dr Neerja Gupta

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World Rare Disease Day: Key Challenges & Developments decoded with Prasanna Shirol, ORDI & Dr Neerja Gupta, AIIMS

Dr. Nandita Mohan28 Feb 2025 11:30 AM IST

Rare diseases may be uncommon, but their impact on individuals, families, and communities is profound. Since 2008, Rare Disease Day has been observed...