Hyderabad’s Nizam’s Institute of Medical Sciences (NIMS) and the Centre for DNA Fingerprinting & Diagnostics (CDFD) have identified a previously unknown genetic disease, expanding the understanding of the thousands of genetic disorders known to medical science.
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Globally, around 6,000 to 7,000 genetic diseases have been documented and the advancements in next-generation sequencing technology are enabling scientists to uncover new genetic conditions. In this study, the teams from NIMS and CDFD collaborated to investigate a couple’s tragic case, where their infants suffered from severe fluid accumulation in body cavities and organs, leading to premature death.
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.
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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’.
The results of this study, which were published in the September 2024 issue of Clinical Genetics, highlight the emergence of this new genetic disease in a family with recurrent pregnancy loss.
Telangana’s Minister for Health C. Damodar Raja Narasimha lauded the researchers for this exceptional achievement. “This research places NIMS Hospital and the state of Telangana on the global map for medical advancements,” he stated.