India’s First Rare Disease Hackathon Brings Hope

Hyderabad: Parents from across India converged at the BRIC-Centre for DNA Fingerprinting and Diagnostics (CDFD) for the country’s first-ever rare disease Hackathon, seeking long-awaited diagnoses for their children suffering from unexplained and debilitating disorders.Families travelled from Maharashtra, Uttar Pradesh, Jammu and Kashmir, and Telangana, carrying years of medical records and unanswered questions. Reported symptoms included poor weight gain, repeated bone fractures, ankle swelling, cysts, developmental delays, and chronic pain. Several parents urged governments to introduce a dedicated health card for individuals with rare and undiagnosed diseases to ease financial burdens.Sheikh Wasim from Jammu and Kashmir said his two-year-old daughter’s blood samples were collected during the event. “She looks fine, but doctors told us at birth she has a cyst. Surgery is risky, and her speech is delayed. I have consulted five doctors so far,” he said.T. Kishore, an agriculture student from Wanaparthy, Telangana, described his six-year-old son’s ordeal of repeated fractures since infancy. “Almost his entire body is in bandages except the spine. My second son has started complaining of bone pain. I have already spent ₹30 lakh. We need a government health card to survive financially,” he said.Ganesh Deshmukh from Solapur, Maharashtra, said his niece has endured ankle pain for nearly a decade, which worsened in summer. “She walks with sticks and survives on painkillers. Now her younger sibling shows similar symptoms,” he said.Other parents spoke of premature babies failing to gain weight and children showing no behavioural or physical responses, underscoring the scale of the crisis.The hackathon, coordinated by the Wilhelm Foundation (Sweden) with Sir Ganga Ram Hospital, New Delhi; BRIC-CDFD, Hyderabad; and the Society for Indian Academy of Medical Genetics, brought together over 100 experts from 10 countries to work intensively on 25 complex undiagnosed cases using fresh whole genome sequencing data over 48 hours.Helene and Mikk Cederoth, founders of the Wilhelm Foundation, said the initiative was born of personal loss, having lost three children to an unknown illness. “A timely diagnosis unlocks treatment, support, and hope, especially in countries like India where resources are limited,” Helene said. “The bell rings for every diagnosis, and we jump with happiness because it is life-giving for a child.”Dr Ashwin Dalal, Dr Ratna Dua Puri, and Dr David Pierce highlighted the scale of the challenge: “Around 350 million people worldwide, including nearly 70 million in India, live with undiagnosed diseases. Genome sequencing solves only about 40 per cent of cases, making collaborative efforts crucial.”



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