This extract is from a poster presented by Indian Organisation for Rare Diseases (IORD) President and CEO, Prof. Ramaiah Muthyala, titled: “Role of Patient Support Organizations and Collaborative Genomics Programs in Enabling Participatory Medicine for Rare Diseases in India: A Case Study of Autosomal Recessive Congenital Ichthyosis” at the Undiagnosed Disease Network Conference, South Korea (Sept 4–6, 2024).
The lack of a definitive cure for rare diseases imposes a significant financial burden on affected individuals, their families, the healthcare system, and the government. Therefore, preventive strategies such as genetic counseling, carrier screening, and prenatal testing are crucial in managing these conditions, especially in rural areas where many cases remain undiagnosed due to a lack of awareness and healthcare access. This challenge is particularly relevant in densely populated countries like India, where high consanguinity rates and limited healthcare resources further complicate disease management.
This report highlights the critical role of collaboration between a patient advocacy group and a government research organization, which enabled the precise molecular characterization and timely management of Lamellar Ichthyosis in a patient from a remote South Indian village. This case study underscores how patient support organizations contribute to raising awareness, educating and assisting families, and advocating for patients’ rights. Additionally, it reinforces the importance of government-backed genomic research initiatives in ensuring equitable access to diagnostics and treatment for rare disease patients across India.
