Abstract
Rare genetic diseases are rare by themselves with prevalence of 1 in 25,000, but collectively they are a significant cause of morbidity and mortality. Till date, collectively there are more than 9,000 rare diseases documented, which impose a devastating impact on patients, their families, and the healthcare system, including enormous societal burden. Obtaining a conclusive diagnosis for a patient with a rare genetic disease can be long and gruelling. For some patients it takes months or years to receive a definite diagnosis, and around 50% of the patients remain undiagnosed even with expert clinical and advanced high-end laboratory investigations. Owing to the large population and practice of consanguinity the Indian population is a pool of indigenous variants and unreported phenotypes or diseases. A mission program on pediatric rare diseases is an unparalleled initiative to study unique clinical conditions via the use of latest state-of-art technologies and with the combination of a mulit-omics approach. Our initiative will not only provide diagnosis to patients with rare disease but also build a platform for translational research for rare disease screening, management, and treatment.
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This article is part of the Topical Collection: The Rare Genetic Disease Research Landscape in India.
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Kar, A., Sundaravadivel, P. & Dalal, A. Rare genetic diseases in India: Steps toward a nationwide mission program. J Biosci 49, 34 (2024). https://doi.org/10.1007/s12038-024-00430-1
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DOI: https://doi.org/10.1007/s12038-024-00430-1