Rare Genetic Disorders Affecting Children Identified

The Programme on Paediatric Rare Genetic Disorders (PRaGeD), a national initiative funded by the Department of Biotechnology, is actively identifying and supporting families affected by rare genetic conditions. The program involves 16 institutions across India, with a focus on building awareness, reducing stigma, and offering counselling and education.

Experts define a rare disease in India as affecting fewer than one in 5,000 people, with approximately 80% being genetic and nearly half impacting children. Since 2022, research teams have analyzed samples from patients and parents, leading to the identification of 247 families in Punjab, Haryana, Rajasthan, Chandigarh, and Jammu and Kashmir with suspected disorders.

So far, 49 cases have been confirmed through genomic and clinical investigations. These confirmed cases include 21 related to neurological disorders, six with developmental and sexual issues, and 12 showing multisystem involvement. Other conditions involve cardiac abnormalities and cognitive impairments. The detection of these disorders provides accurate diagnosis and facilitates informed medical management and genetic counselling for families.

The initiative is crucial as rare genetic disorders often remain undiagnosed for extended periods, causing significant emotional, psychological, and financial stress. By bridging this diagnostic gap, the PRaGeD program offers much-needed relief and clarity to affected families.