Hyderabad:The department of medical genetics at the Nizam’s Institute of Medical Sciences (NIMS) and the Centre for DNA Fingerprinting and Diagnostics (CDFD) in Hyderabad have reported the discovery of a new genetic disease termed as 'lethal serpinopathy'. The study highlighting this discovery was published in the September 2024 issue of the journal ‘Clinical Genetics.’
The researchers said that the new genetic disease was seen in a family with recurring pregnancy issues. The teams from NIMS and CDFD worked with a family whose babies suffered from fluid accumulation in their body cavities and organs, leading to premature death.
Dr Shagun Aggarwal, head of the department of medical genetics, along with Dr Prajnya Ranganath, additional professor, at NIMS, and her team conducted detailed tests on a second medically aborted foetus. Using advanced DNA sequencing, they identified a mutation in the SERPINA11 gene, leading to the discovery of the disease.
The CDFD team, led by Dr Rashna Bhandari and Dr Ashwin Dalal, studied the gene and found that its malfunction affected multiple tissues, resulting in a deadly condition they have termed lethal serpinopathy.
