<p>Rare diseases, often called orphan diseases, affect a small number of individuals. They are associated with severe, chronic, debilitating and adverse health outcomes, sometimes leading to death. There are no effective treatments for most of the rare diseases, and hence the patients often rely on therapies that alleviate symptoms, which may require lifetime treatment. This will place a significant burden on patients and their families physically, emotionally and financially, affecting their overall well-being. In India, the healthcare resources are already over-stretched and hence addressing the needs of patients suffering from rare diseases is particularly complex due to the high costs of diagnosis and treatment, lack of awareness, and limited access to specialized services. However, several initiatives have been undertaken at the national level to address the challenges related to the diagnosis, treatment and surveillance of rare diseases. The National Policy for Rare Diseases first introduced in 2017, then revised and launched in 2021, provides a framework for India’s approach in managing rare diseases. Nevertheless, challenges such as inadequate implementation of policy, insufficient manufacturing of orphan drugs at the national level and the lack of an effective surveillance and data collection system hampered the progress in providing an effective public health response for rare diseases. This review provides an overview of the Indian rare disease policy emphasizing government initiatives to tackle the burden of rare diseases on patients, families and the healthcare system. </p>