Rare Disease

A Dad Takes Under His Wings All ‘Silent Angels’ of Rett Syndrome

Arising from the Doom of 'No Diagnosis No Treatment', here is the story of how Samir Sethi persevered.

Duchenne Muscular Dystrophy: How a self-taught dad is using state-of-the-art science to save his son

Ambrish and Nikita Kapadia Physician-scientists are perhaps some of the busiest people on the planet. With heavy clinical duties on top...

1,417 views7 comments

Spinal Muscular Atrophy : From being denied school admission to reaching the portals of IIT Kanpur

This is the story of how a family dodged the severely debilitating rare disease - Spinal Muscular Atrophy

Rare Disease Research Insights : GNE Myopathy

A new cellular model of GNE Myopathy reveals disease mechanism and holds promise for testing potential therapies. Jason Doles & Team at...

1,315 views1 comment

A Parents Group saving the lives of infants born with Rare Metabolic Disease : Part 2

The story of Vikas and Poonam Bhatia. Sambhav Bhatia In Part 1 we saw how Vikas and Poonam lost their two babies Chahak and Lakshya to...

A Parents Group saving the lives of infants born with Rare Metabolic Disease: Part 1

The story of Vikas and Poonam Bhatia. Vikas and Poonam Bhatia. Metabolic acidosis, arterial blood gas, pyruvate dehydrogenase…. words...

How parents, who refused to accept defeat, pushed the frontiers of Rare Disease Research

The world doesn’t care when a disease is rare, while a parent doesn’t care, that the disease is rare . Over the ages, it’s parents who...