In May 2025, the World Health Assembly passed a resolution for the World Health Organization to develop an action plan for universal healthcare for the estimated 300 million people living with rare diseases (PLWRD).
Included in this resolution, it was noted that persons living with undiagnosed disease (PLWUD) are likely to be diagnosed with a rare disease. With estimates that 60 per cent of PLWRD remain undiagnosed, collectively, PLWRD and PLWUD could affect as many as 600 million individuals worldwide.
The complexity of diagnosing individuals with a rare disease is well known and is often termed the ‘diagnostic odyssey’ because persons living with undiagnosed disease average up to six years to get this diagnosis, if at all. Unfortunately, even with medical advancements, the pathways for diagnosis and treatment remain underdeveloped. The fact of the matter is simple. No diagnosis equates to no treatment, no care management plan and no understanding of the PLWUD. However, innovative, collaborative approaches can help address these insufficiencies and provide hope and answers for PLWUD.
The Indian context: Issues and developments
India carries a disproportionate burden, with 70 million people estimated to be affected by rare diseases. Treatments and medical care, when available, are prohibitively expensive. However, for PLWUD, the issue is the lack of answers. With current diagnostic tools, only 40 per cent of patients receive a diagnosis and 60 per cent remain undiagnosed even after undergoing comprehensive diagnostic investigations because their diseases have not yet been discovered.
For these patients, the diagnostic odyssey can take decades, or even a lifetime. They spend years consulting a variety of specialists, repeating investigations and yet remain undiagnosed. For patients in rural and remote areas, travelling to cities for consultations poses an additional burden. This diagnostic odyssey not only racks up financial costs but also causes immense emotional distress to patients and their families.
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The National Policy for Rare Diseases 2021 makes several provisions, such as infrastructure for early detection, data collection, increased focus on research & development, financial support and localised production of medicines. But for PLWUD, the support offered by the policy is only a part of the solution. The major hurdle lies in coordination. The need of the hour is to bring specialists together for a multidisciplinary review and to create pathways for when standard tests cannot help.
With a growing base of clinical expertise, expanding genomics capability, and a strong innovation ecosystem, India can build more structured diagnostic routes for PLWUD. Here, CSR foundations and philanthropic capital can fund innovative models that support well-coordinated collaborative approaches with the potential to shorten the diagnostic odyssey.
Innovative approaches to tackle undiagnosed diseases
Globally, rare disease research is increasingly driven by collaboration and innovation. Platforms such as the Undiagnosed Disease Network International, International Rare Disease Research Consortium (IRDiRC) and the Rare Disease Clinical Research Network enable cross-border knowledge sharing.
Genomic registries like ClinVar support data pooling, while public–private partnerships such as the Innovative Health Initiative help de-risk early-stage research. In India, centres of excellence like the AIIMS Rare Disease Programme are building much-needed clinical and research capacity.
One of the most compelling innovations is the Undiagnosed Hackathon—an intensive, in-person collaborative event that brings together global experts such as geneticists, doctors, researchers, and bioinformaticians to team up and solve some of the most complex undiagnosed cases.
The format also allows these experts to meet the patients’ families and get first-hand information about the symptoms, which helps with better analysis. By combining expertise with structured teamwork, the Hackathon helps accelerate solutions for cases that do not fit known patterns.
In India, where the healthcare landscape is vast and specialised research can become compartmentalised, such an approach acts as a critical catalyst for cross-sector collaboration, breaking down traditional silos between clinicians and researchers to accelerate the path from data analysis to a life-changing diagnosis.
The power of this model was showcased at the very first Undiagnosed Hackathon for India, held in Hyderabad from 4 - 5 February 2026. Organised by the Wilhelm Foundation, supported by AVPN, Sir Ganga Ram Hospital and the Centre for DNA Fingerprinting and Diagnostics. The landmark event involved 25 patients and families and convened over 200 participants, including experts from regions spanning North America, Europe, Asia, and Oceania. This collaborative effort led to seven diagnoses, illustrating the potential of global partnerships and technology for rapid health impact.
While 7 families received a much-welcome diagnosis that uncovered the genetic basis of the condition and therefore ended their quest for answers, such is the genetic diversity across populations, much of what was reported is new to India and assignment of particular disease names will continue to be discussed by the medical community. Nevertheless, 7 families can now receive direction on the best course of care for these PLWUD.
The way forward
To accelerate such collaborative efforts and research, CSR foundations and philanthropies can not only fund the coordination, infrastructure, and expertise that complex cases demand but also de-risk investments in pioneering solutions so that they can scale effectively.
This includes multidisciplinary case-review models that bring specialists together, strengthening interpretation capacity through better analyses, and supporting patient navigation so families are not left to coordinate care alone.
Funders can also enable responsible data-sharing and registry-linked collaboration across institutions, ensuring complex cases generate shared learning and are not examined in isolation.
Rare diseases and undiagnosed diseases may be individually uncommon, but collectively they affect 600 million people worldwide. Innovative research models, collaborative platforms, and mission-driven partnerships have the potential to translate scientific advances into real-world impact.
Mobilising capital through industry, philanthropy and CSR is essential to fostering these innovative pathways. For India, the opportunity is not only to expand testing, but to strengthen interpretation, collaboration and build systems that not only treat disease but also name it.
(Cederroth is the co-founder of Wilhelm Foundation and Bajoria is the executive director of AVPN)
The opinions expressed in this article are those of the author and do not purport to reflect the opinions or views of THE WEEK.