An update on management of rare diseases in India

Vivek Srivastava; Ishika Mohan; Bushra Khatoon

doi:10.18203/2394-6040.ijcmph20241214

Authors

Vivek Srivastava Department of Pharmacology, Amity Institute of Pharmacy, Amity University, Lucknow Campus, Uttar Pradesh, India
Ishika Mohan Department of Pharmacology, Amity Institute of Pharmacy, Amity University, Lucknow Campus, Uttar Pradesh, India
Bushra Khatoon Department of Pharmacology, Amity Institute of Pharmacy, Amity University, Lucknow Campus, Uttar Pradesh, India

DOI:

https://doi.org/10.18203/2394-6040.ijcmph20241214

Keywords:

Rare disease, Orphan drugs, Genetic disorder, National policy

Abstract

Rare diseases, characterized by their prevalence in smaller segments of the population, pose significant challenges globally. While definitions may vary across nations based on prevalence rates, these conditions are often life-threatening despite affecting fewer individuals. Genetics play a prominent role, contributing to approximately 80% of rare disorders, with treatments often categorized as ‘orphan drugs’. Regardless of a country's economic status or development level, rare diseases impose substantial burdens on healthcare systems and national economies. In India, rare diseases represent a pressing public health concern, yet they often receive inadequate attention and resources. Factors such as insufficient diagnosis, limited awareness, sparse epidemiological data, high treatment costs, and scant research and development exacerbate the challenges faced by patients and healthcare providers. Despite their significant impact, rare diseases remain a neglected area within the healthcare landscape. The aim of this review was to shed light on the rare disease landscape in India by examining available secondary data from published sources. By comprehensively assessing the existing literature, researchers seek to gain insights into the prevalence, management, and challenges surrounding rare diseases in the Indian context. This endeavor is crucial for informing policymakers, healthcare professionals, and stakeholders about the urgent need for improved strategies and resources to address the complex issues associated with rare diseases in India.

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