Advanced therapies, tech key to tackle rare disease burden in India: CDSCO, NITI Aayog

New Delhi, Aug 20 (IANS) Advanced therapies and technology are the key to tackling the rare disease burden in India, said government health officials on Wednesday.

Officials from the Central Drugs Standard Control Organisation (CDSCO), under the Ministry of Health, and NITI Aayog stressed this line of action while addressing the National Conference on Rare Diseases, organised by business chamber FICCI.

There are roughly 7,000 known rare diseases that are estimated to collectively affect close to 90 million Indians. "From early diagnosis to advanced therapies like cell and enzyme treatments -- we must now build robust regulatory pathways and use tech to ensure access across India," NITI Aayog's Member, Health, Dr Vinod K. Paul, said.

"Advanced therapies hold the key to transforming rare disease care," Drugs Controller General, CDSCO, Rajeev Singh Raghuvanshi, said. The expert highlighted the transformative potential of advanced therapies to strengthen India’s rare diseases ecosystem and improve patient outcomes.

He stated that the "CDSCO is committed to enabling safe, timely access as we integrate these innovations into India’s public healthcare system", under the National Policy for Rare Diseases (NPRD).

Officials also underlined the need for a collective resolve to ensure faster diagnosis, equitable treatment, and an improved quality of life for patients battling rare diseases.

Secretary, Pharmaceuticals in the Ministry of Chemicals & Fertilisers, Amit Agrawal, emphasised that addressing rare diseases must be seen not merely as a medical challenge but as a moral responsibility. The sessions focused on boosting access, awareness, and affordability to address the rare disease burden.

The experts also deliberated on tackling the high treatment costs, limited therapy access, and fragmented care pathways that challenge rare disease patients -- especially children. “India must focus on national-scale health outcomes, with affordable access at the core.

We are leveraging Jan Aushadhi, bridging cost gaps, and enabling Make in India innovation to transform rare disease care," Paul said.

The experts also urged strengthening Centres of Excellence for rare diseases through a hub-and-spoke model, supported by centralised patient registries and digital tools. "Early diagnosis is crucial -- not just for treatment but for understanding rare diseases.

It requires focused research to identify and manage these conditions effectively," ICMR Emeritus Scientist Madhulika Kabra said. AIIMS' Child Neurology Department's Prof Sheffali Gulati, called for more government initiatives and public-private partnerships through Centres of Excellence, which "must ensure proper management of medications and therapies for effective rare disease care".

The conference brought together policymakers and healthcare leaders to explore opportunities for strengthening rare care.