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NIMHANS

Coats plus syndrome, a rare genetic disorder identified in Bangalore

The first Indian case of Coats plus syndrome, a rare genetic disorder has been identified in Bangalore by a team of researchers. This interdisciplinary team consisted of scientists from NIMHANS and IISc in Bangalore, and CSIR-Institute of Genomics and Integrative Biology in New Delhi.
This rare disorder has an estimated prevalence of 1 in 10,00,000 people across the globe and affects multiple organs. The scientists identified an eight-year-old boy who showed signs of having this rare disease, along with an unusual occurrence of Dextrocardia, where the heart is positioned on the right side of the body instead of the left.

Spectroscopy to detect muscular weakness at an early stage

Myopathies are muscular diseases where muscle fibres do not function optimally, resulting in muscular weaknesses. Scientists from IISc have shown for the first time that a technique generally used to analyse atomic structure of chemicals, Raman spectroscopy, can be utilized as a diagnostic tool to differentiate between different types of myopathies.