Rare diseases may affect a small number of people individually, but together they pose a serious and often overlooked public health challenge. In India, the Indian Council of Medical Research (ICMR) has officially recognized nearly 450 rare diseases, marking an important step toward better diagnosis, policy support, and research. Globally, more than 7,000 rare diseases have been identified. Given India’s large population, the country has a significant number of rare disease patients, not because the diseases are more common here, but due to the size of the population.
Experts say improving early diagnosis, expanding genetic testing services, and strengthening specialised referral centres are key priorities in addressing the growing rare disease burden in the country.
In response to these challenges, World Rare Disease Day 2026 was observed on Saturday in Hyderabad with a scientific conference titled “Raise the Awareness – Rare Diseases,” organised by the Indian Organisation for Rare Diseases (IORD) in collaboration with L V Prasad Eye Institute and Rainbow Children’s Hospital. This year, the focus was on rare diseases in ophthalmology, drawing attention to conditions that affect vision but often remain undiagnosed for years.
The event featured the release of the IORD Annual Report 2025 and the screening of a rare disease awareness short film, I am not Alone, directed by filmmaker Muralidhar Indrakanti. Speakers highlighted the need for better coordination between paediatricians, ophthalmologists, genetic specialists, and primary care doctors to ensure timely referrals and accurate diagnosis.
Prof. Ramaiah Muthyala, President and CEO of IORD, said rare diseases continue to remain under-recognised despite their growing impact. He noted that while awareness programmes have increased over the years, discussions often remain broad. This year’s decision to focus specifically on rare eye disorders was aimed at bringing deeper clinical attention to one important segment.
Meanwhile, Dr. Muralidhar Ramappa, Head of the Center for Rare Eye Diseases and Ocular Genetics at L V Prasad Eye Institute, stressed that rare eye conditions, though individually uncommon, collectively affect many children and families. Delayed diagnosis can result in avoidable vision loss and emotional stress for families who often spend years seeking clarity. He explained that not all rare eye diseases are purely genetic; some are linked to metabolic disorders, infections, developmental issues, inflammation, trauma, or other systemic conditions, making detailed evaluation essential.
Experts also highlighted the work of the Center for Rare Eye Diseases (CERED) at LVPEI, a dedicated facility focusing on rare systemic disorders affecting the eye. The centre provides specialised care at affordable cost and extends free treatment to underprivileged patients, along with awareness and outreach initiatives.
The conference brought together doctors, researchers, medical students, and rare disease survivors. Among those who addressed the gathering were Dr. Dinesh Kumar Chirla, Dr. Gayatri K, and Dr. Anil Kumar Mandal, who delivered the keynote address.
The key message from the event was clear: rare diseases may be uncommon, but patients living with them need timely diagnosis, coordinated care, and continued research support to improve their quality of life.
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