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.
The study, led by Dr Shagun Aggarwal, head of Genetics at NIMS, along with Dr Rashna Bhandari and Dr Ashwin Dalal from CDFD, has been published in the Clinical Genetics Journal, drawing global attention to this rare and life-threatening genetic anomaly known as lethal serpinopathy.
The discovery came after Head of the Department of Medical Genetics at NIMS Dr. Shagun Aggarwal along with Additional Professor Dr. Prajnya Ranganath and their team conducted comprehensive tests on the second foetus which was medically terminated. By utilising advanced DNA sequencing techniques, they identified a mutation in the SERPINA11 gene. This critical finding led to the recognition of a new disease.
Further analysis by the CDFD team, led by Dr. Rashna Bhandari and Dr. Ashwin Dalal, revealed that the gene’s malfunction affects multiple tissues, causing a deadly condition they have named ‘lethal serpinopathy’.
