Rare Genetic Diseases

Genetic disorders are far from rare in India, owing to the high population density in the country, which translates to a higher disease burden. 5000-8000 rare genetic diseases have been identified globally, 450 of which have been reported in India. Difficulties involved in reaching out to widely dispersed carriers or patients and absence of point-of-care diagnosis adds to the complexity in tackling these disorders at an early stage.

We take multiple approaches to reduce the rare genetic disease burden. One approach is to develop diagnosis that can be used for screening at population scale. In parallel, we also aim for indigenization and development of low-cost / affordable interventions.

Program Coordinators

Shivranjani Moharir