Why rare genetic diseases are not so rare in India
- Vaishnavi Chandrashekhar
- TNN Jul 31, 2025, 15:33 IST IST
In a crowded lab at the Centre for Cellular and Molecular Biology (CCMB), Kumarasamy Thangaraj points to a machine rotating test tubes that contain tissue from an animal model. The process is one step in a months-long study of a genetic mutation recently discovered in a small South Indian community. The variant, when carried by both parents, can lead to a fatal disease in the child.
The mutation likely emerged in an ancestor’s genes thousands of years ago, says Thangaraj. And, because they kept marrying within their group, the variant persisted.
The mutation likely emerged in an ancestor’s genes thousands of years ago, says Thangaraj. And, because they kept marrying within their group, the variant persisted.