AIIMS Bhopal expands genetics services, brings diagnosis and treatment closer to patients

Bhopal: All India Institute of Medical Sciences (AIIMS) Bhopal has strengthened care for patients with genetic and rare disorders after being recognised as a government-designated Centre of Excellence and opening a new Department of Medical Genetics, hospital official said.

The Department of Medical Genetics became functional in January 2026, soon after Dr Madhabananda Kar took over as director of the institute.

AIIMS Bhopal now manages a registry of more than 2,000 patients with genetic conditions. Around 160 of those patients are registered for financial assistance under the national rare disease policy, and a recent tender has supplied drugs for several eligible rare disorders, said AIIMS Bhopal department of genetics, professor and HoD, Dr Bhavna Dhingra.

The department is rolling out in-house diagnostic services so families no longer need to travel outside the state for genetic testing. While some investigations are already available, officials said remaining tests will be phased in over time. Complementary services include multidisciplinary clinical care — ENT, ophthalmology, orthopedics, cardiology and physiotherapy and other departments — plus genetic counselling and prenatal diagnostic options for families with previously affected children.

“Patients will receive comprehensive diagnosis, counselling and rehabilitative support under one roof,” she said, noting the centre treats a broad spectrum of conditions. These include neuromuscular disorders such as spinal muscular atrophy, lysosomal storage diseases like Gaucher and mucopolysaccharidosis, inborn errors of metabolism, hereditary angioedema and many skeletal and immunodeficiency disorders. Of the roughly 8,000 known rare disorders, the government currently lists 63 for which treatments exist and financial aid may apply.

Experts cautioned that effective therapies exist for fewer than 5% of all rare disorders and that costs vary widely — from inexpensive vitamin replacement to life‑long or high‑cost treatments running into lakhs or crores.

Experts urged families with recurrent unexplained deaths, recurrent pregnancy loss, unexplained intellectual disability, or a previously affected child to visit AIIMS Bhopal’s genetic clinic for diagnosis, counselling and preventive care.