AIIMS Bhopal has strengthened care for patients with genetic and rare disorders after being recognized as a government-designated Centre of Excellence and opening a new Department of Medical Genetics, hospital officials announced.
New Department and Leadership
The Department of Medical Genetics became functional in January 2026, soon after Dr Madhabananda Kar assumed charge as director of the institute. The recognition marks a significant step in providing specialized care for genetic conditions in central India.
Patient Registry and Financial Assistance
AIIMS Bhopal now manages a registry of over 2,000 patients with genetic conditions. Among them, around 160 patients are registered for financial assistance under the national rare disease policy. A recent tender has supplied drugs for several eligible rare disorders, said Dr Bhavna Dhingra, professor and head of the Department of Genetics at AIIMS Bhopal.
In-House Diagnostic Services
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 stated that remaining tests will be phased in over time. This initiative aims to reduce the burden on patients and their families who previously had to seek testing elsewhere.
Comprehensive Multidisciplinary Care
Complementary services include multidisciplinary clinical care involving departments such as ENT, ophthalmology, orthopedics, cardiology, physiotherapy, and others. Additionally, genetic counseling and prenatal diagnostic options are available for families with previously affected children. “Patients will receive comprehensive diagnosis, counseling, and rehabilitative support under one roof,” Dr Dhingra noted.
Conditions Treated
The centre treats a broad spectrum of conditions, including 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.
Expert Insights on Rare Disease Treatment
Experts cautioned that effective therapies exist for fewer than 5% of all rare disorders and that costs vary widely—from inexpensive vitamin replacement to lifelong or high-cost treatments running into lakhs or crores. They 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, counseling, and preventive care.
The establishment of the Centre of Excellence and the new department underscores AIIMS Bhopal's commitment to advancing genetic medicine and providing accessible care for rare diseases in the region.
