Indian scientist finds key to identify mysterious causes of brain disorders

A new study published in The New England Journal of Medicine, reveals a novel technique called ‘targeted high-coverage sequencing’ used by Indian scientist Dr Saumya Jamuar for discovering hidden genetic causes of brain disorders.

  According to Dr Jamuar, the new approach helped identification of somatic mutations in 30 per cent of patients, 63 per cent of which would have been missed if traditional methods of genetic testing were used. The sequencing method enhanced whole-genome and whole-exome sequencing.

This study holds remarkable significance as it opens up new possibilities of finding genetic causes in mysterious brain disorders. Not all cells in the body are genetically the same, So, the disease-causing mutations don’t necessarily affect every cell. As a result, these mutations are missed easily even with next-generation genomic sequencing. Traditional methods of genetic testing are unable to detect these (somatic) mutations and hence, the true prevalence of somatic mosaicism in relation to human disease has never been quantified previously.

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