Abstract

Background: Rare diseases, sometimes referred to as “orphan diseases,” are illnesses that primarily affect a small number of people depending on their incidence or prevalence in a particular nation or geographic area. Early detection of rare diseases is difficult due to limited screening and diagnostic facilities and most rare diseases still lack safe and effective treatments. Methodology: This study was conducted as a narrative review to synthesize existing evidence on the burden of rare diseases in India, health-system challenges, and policy responses from a public health perspective. Results: Extracted data were thematically synthesized into key domains: Epidemiological burden, Diagnostic and health-system challenges, Treatment access & economic implications and Policy initiatives and implementation gaps. Conclusion: With its underdeveloped registries, inadequate diagnostic infrastructure, and high expense of treatment for uncommon diseases, India’s Rare Diseases ecosystem is still in its infancy. To fill these gaps, various measures like focussing on equitable resource distribution, addressing urban-rural disparity, lower the cost of therapies for rare diseases by introducing “Made in India” medications are being taken

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