Under a flagship Union government programme aimed at reducing the burden of rare genetic diseases in India, the Central University of Punjab (CUP), Bathinda, and its partner medical institutes have identified 49 rare and previously unknown genetic disorders among children after four years of collaborative research.
The findings have emerged under the Programme on Paediatric Rare Genetic Disorders (PRaGeD), a department of biotechnology (DBT)-funded national initiative, involving 16 institutions across the country to build awareness, reduce stigma, and support affected families through counselling and education.
CUP is leading the project in Punjab in collaboration with the All India Institute of Medical Sciences (AIIMS), Bathinda; Guru Gobind Singh Medical College and Hospital, Faridkot; Adesh Institute of Medical Sciences and Research, Bathinda; and the Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh.
Experts associated with the programme said a disease was considered rare in India when it affected fewer than one in 5,000 people. Around 80% of rare diseases are genetic and nearly 50% affect children.
Principal investigator of the project and head of CUP’s department of human genetics and molecular medicine, Anjana Munshi, said the teams had been working since 2022 to identify children suffering from unknown medical conditions and conduct molecular analysis using samples collected from both patients and their parents.
Higher incidence of neurological cases
Over the last four years, the research teams identified 247 families from Punjab, Haryana, Rajasthan, Chandigarh, and Jammu and Kashmir suspected of having rare genetic disorders for detailed clinical evaluation and molecular investigations.
Of these, 49 cases have so far been confirmed through genomic and clinical investigations, while the remaining samples are currently under study.
Among the confirmed cases, 21 were related to neurological disorders, six involved developmental and sexual disorders, 12 showed multisystem involvement, while the remaining included conditions linked to cardiac abnormalities, cognitive impairments and related complications.
Munshi said one of the cases detected in Faridkot involved physical deformities in reproductive organs, while another child from a village in Bathinda was diagnosed with a rare intellectual developmental disorder.
She said families were counselled about the nature of the disorder and informed about the possibility of recurrence in future pregnancies. “Detection of these disorders brings relief to families by enabling accurate diagnosis, informed medical management and timely genetic counselling,” Munshi added.
CUP vice-chancellor Raghavendra P Tiwari said rare genetic disorders often remained undiagnosed for years, placing emotional, psychological and financial stress on affected families.
“In many cases, parents undergo repeated medical consultations without receiving a clear diagnosis. Research under this programme is helping bridge that gap,” he said.
www.hindustantimes.com
#BathindaCentral #varsityled #research #detects #unknown #genetic #disorders #children
