Tay-Sachs and rare disease registries – the Health Heroes podcast

Episode four of Kantar Health’s Health Heroes podcast tackles pharma’s rare disease challenges, the role of patient registries and hears a moving story about the rare genetic disorder Tay-Sachs disease.

Joining me for this instalment of Health Heroes are Geneviève Bonnélye-Fesnien, global head of real-world evidence, research and consulting at Kantar Health, and Dan Lewi, co-founder of The Cure & Action for Tay-Sachs (or CATS) Foundation.

Dan’s eldest daughter Amelie was diagnosed with Tay-Sachs in 2011 at 15 months of age and he shares the emotional story of caring for her and how that led to setting up The CATS Foundation.

This episode of the podcast also looks at the GM2 Disease Registry, managed by The CATS Foundation with support from Kantar Health, and how it will help both patients and the pharma companies working on treatments for them.

The podcast finishes up with an overview from Geneviève on the current outlook for rare diseases.

The Health Heroes podcast series aims to inform and educate life sciences companies on ways for getting closer to patients to help drive improved health outcomes.

Previous episodes have covered the impact of a rare disease, learning from China’s COVID-19 experience and the coronavirus pandemic’s effect on mental health in the US.