India’s first undiagnosed disease hackathon brings global experts to Hyderabad
HYDERABAD: India’s challenge of undiagnosed diseases moved into sharp focus with the launch of the country’s first Undiagnosed Hackathon on February 3, 2026, bringing together global and Indian experts to solve some of the most complex medical cases.
Around 350 million people worldwide, including a significant number in India, live with undiagnosed conditions, often spending years in uncertainty. Genome sequencing currently explains only about 40% of such cases, leaving families without clarity, treatment pathways or support systems.
The 48-hour hackathon is being hosted at the BRIC-Centre for DNA Fingerprinting and Diagnostics, a national research laboratory, and is analysing 25 unresolved patient cases drawn from across the country using fresh whole genome sequencing data.
More than 100 experts, including clinicians, geneticists, bioinformaticians and researchers from 10 countries and multiple Indian institutions, are participating in the effort, organisers said.
The initiative is led by the Wilhelm Foundation, a Sweden-based non-profit founded by parents who lost three children to an unknown illness. The foundation’s mission is to ensure that no patient remains without a diagnosis through international collaboration and data-driven approaches.
“This is about ending the diagnostic odyssey,” said Helene Cederroth, chair of the foundation. Co-founder Mikk Cederroth said timely diagnosis could open doors to treatment, clinical trials and long-term care planning, even when cures are not immediately available.
Building on global successes
Similar hackathons organised by the foundation have shown measurable impact. Four diagnoses were achieved during a Stockholm event in 2023, while a 2025 programme at the Mayo Clinic led to six on-site diagnoses and nine additional follow-ups.
Indian experts said the Hyderabad event marks a significant step in strengthening the country’s rare disease and genomics ecosystem.
Leading Indian geneticist Ashwin Dalal said the collaboration combines international expertise with local clinical insight, which is critical for conditions often missed in routine practice. Ratna Dua Puri, senior geneticist at Sir Ganga Ram Hospital, said access to global analytical resources could shorten diagnosis timelines for Indian patients.
International participation includes experts such as David Pierce, reflecting the cross-border nature of the effort.
The hackathon is supported by the Society for Indian Academy of Medical Genetics, which has mobilised a national network of specialists, and the Asia Venture Philanthropy Network.
Organisers said the event also underlines India’s growing role in genomic research, positioning the country as a key contributor to global efforts to tackle rare and undiagnosed diseases.
