Rare Genetic Diseases

Genetic disorders are far from rare in India, owing to the high population density in the country, which translates to a very high disease burden. 5000-8000 rare genetic diseases have been identified globally, 450 of which have been reported in India. Mostly affecting children, they carry a huge socio-economic, emotional and physical burden on affected families. Difficulties involved in reaching out to widely dispersed carriers or patients and absence of point-ofcare diagnostics adds to the complexity in tackling these disorders at an early stage.

We take multiple approaches to reduce the rare genetic disease burden in the country. One model is to develop diagnostics that can be used for screening at population scale to accurately identify carriers and/or patients. In parallel, we also aim for indigenization and development of low-cost and affordable therapeutic interventions.


Gayatri R Iyer, Iliyas Rashid, Runa Hamid
Shivranjani C Moharir, Vasanth Thamodaran