This is an abridged excerpt from an interview with Dr. Ramaiah Muthyala, Founder and CEO of the Indian Organization for Rare Diseases (IORD), given to senior journalist Kezia of ABN Andhra Jyothi news channel. You can watch the full interview here.
The Indian Organization for Rare Diseases (IORD), founded by Dr. Ramaiah Muthyala in 2005, has emerged as a driving force behind rare disease recognition, policy-making, and patient advocacy in India. Motivated by early experiences in his native village in Khammam district in Telangana and reinforced during his academic tenure in the United States, Dr. Muthyala established IORD — the country’s first non-profit dedicated to rare diseases — to address critical gaps in diagnosis, awareness, and equitable patient care. In this interview, Dr Ramaiah Muthyala highlights IORD’s journey, contribution, key milestones, advocacy roles, challenges and impact.
Key Policy Milestones and Impact
Dr Ramaiah Muthyala tells the interviewer how IORD played a pivotal role in shaping India’s first National Policy for Rare Diseases. In 2017, the Government of India’s Health Ministry adopted the country’s inaugural rare disease policy, drawing directly from the comprehensive IORD white paper — a document developed after comparative studies of international rare disease strategies.
The late Dr. A.P.J. Abdul Kalam, former President of India, is recognised as a major catalyst for the rare disease movement. Dr. Kalam’s personal involvement turned rare disease policy into a national priority, with Dr. Muthyala crediting him as the driving force behind the “unfinished business” of rare disease advocacy.
I say this with pride — Dr. Kalam’s official biographer once told me: “Dr. Kalam had six unfulfilled missions in his life — and one of them was Rare Diseases.” In 2015, Dr. Kalam came to Hyderabad to attend a conference on Rare Disease awareness. That moment was a milestone. From there, the government began to respond. The fact that the policy was announced — is truly a realisation of one of his dreams.
IORD’s white paper presented detailed proposals for systematic screening, prevention, and care models. Today, between 7,000 and 10,000 rare diseases have been identified globally, with hundreds more discovered annually. Most lack formal names and clear diagnostic markers, with an average diagnosis delay of 7–10 years and frequent misdiagnoses stretching up to two decades.
Addressing Genetic and Social Realities
Most rare diseases have genetic origins, often surfacing in subsequent generations. Sickle cell disease, for example, remains prevalent in tribal communities and in populations where consanguineous marriages are common. Dr. Muthyala highlights historic public health successes, such as Prime Minister Narendra Modi’s campaign to combat sickle cell disease in Gujarat, which introduced systematic screening for school children and a color-coded card system based on genetic risk.
Education and ongoing prevention are regarded as the primary strategies for containing genetic rare diseases, particularly in high-risk regions. “Prevention is always better than cure,” said Dr. Muthyala. “We are committed to promoting awareness and early detection wherever possible.”
Advocacy, Research, and Ongoing Initiatives
IORD’s mission centers on policy advocacy, awareness-building, and ensuring equal opportunities for all rare disease patients. Dr Ramaiah explains that IORD’s motto, “I am not alone,” serves to comfort families who often feel isolated by diagnoses. To strengthen early identification, IORD has implemented village-level pilot studies, particularly in Dr. Muthyala’s native Khammam district, training ASHA workers and local medical personnel to spot rare conditions more effectively than ever before.
Rare Disease Day, observed annually on the last day of February, has become a key event in cities like Hyderabad, Vijayawada, Khammam, and Delhi, strengthening public engagement and government partnerships. The Telangana government and health leaders in Andhra Pradesh have already provided significant support for IORD initiatives, and a new Memorandum of Understanding with the Andhra government is under expert review.
Barriers and Next Steps
According to global estimates, around 90 million Indians — roughly 5% of the population — could be living with rare diseases. However, the exact national burden remains unknown, as rare conditions have yet to be systematically included in the decadal national census. IORD continues to urge the government to prioritize rare disease data collection.
Access and affordability of rare disease drugs remain significant obstacles. While many previously patented orphan drugs are now locally manufactured in India, cost variations persist due to research expenses and supply chain factors. IORD advocates for expanded insurance coverage, the extension of PLI and related schemes, and mandatory newborn and prenatal screenings nationwide. “Newborn screening and prevention is central to our mission,” Dr. Muthyala emphasized, “but continued government and public engagement will determine our progress.”
Efforts are also underway to formally integrate rare disease education into medical school curricula and ongoing professional training for nurses and doctors, amplifying the knowledge base and responsiveness of India’s healthcare system.
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