Hyderabad scientists develop more efficient way to diagnose rare diseases

Instead of traditional gene mapping, they are utilising Optical Genome Mapping, a technique which captures the entire DNA structure and gives a complete map (or picture) of the genome

Hyderabad: In a first, genetic researchers from Hyderabad have evolved a new and more efficient way to diagnose rare diseases.

Instead of traditional gene mapping, they are utilising Optical Genome Mapping (OGM), a technique which captures the entire DNA structure and gives a complete map (or picture) of the genome, thus helping researchers to identify structural variations in the genome and exactly pin-point the cause of the rare disease.

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The research team from the Hyderabad-based Centre for Cellular and Molecular Biology (CCMB), whose study was published in the European Journal of Human Genetics of Nature Science Journal (December 9, 2024), showcased their research by taking up OGM study on two children with rare diseases including severe haemophilia and autism.

Senior research fellow and science communicator from CCMB, Aditya Undru, in a report (India Bioscience of Department of Biotechnology), aptly described the cutting-edge research on Optical Genome Mapping as “It is like enabling an explorer in an island, who is searching for buried treasure, with a complete treasure map and a bird’s-eye view. In a dense forest, fragments of a treasure map become useless. The explorer needs a complete map and a bird’s eye view.”

The CCMB researchers pointed out that their study has the potential to reshape the way genetic disorders are studied and understood, thus opening a new era of genetic diagnostics and research.

The study will play a vital role in resolving clinical questions over rare diseases. The approach of utilising optical genome mapping helps fill certain gaps in the field, particularly around structural variations that have been challenging to fully capture with older sequencing technologies, the researchers in the Indian Bioscience report, said.