Conversations@TIGS is back with a new series: “Demystifying Rare Genetic Diseases”. This series aims to increase awareness about Rare Genetic Diseases and curate factual knowledge through conversations with experts.
Imagine, as an adult, waking up one day to find out you suddenly can’t walk or climb stairs normally anymore. This gait change — called ‘foot-drop’ — is a characteristic of GNE Myopathy, an adult-onset ultra-rare genetic disease affecting the skeletal muscle caused by a mutation in the GNE gene.
Every Rare Genetic Disease has its unique challenges and stories. In this episode, listen to Dr. Rakesh Mishra, Director of Tata Institute for Genetics and Society, have an in-depth conversation about GNE Myopathy with Prof. Alok Bhattacharya, managing trustee of World Without GNE Myopathy (WWGM), a Patient Advocacy Group. They touch upon developments in science for therapeutics to the mental health of patients with GNE Myopathy.
Prof. Bhattacharya is also a Professor and Head of the Department of Biology at Ashoka University, Sonipat, Haryana. His professional experience, coupled with personal stories, helps him give a well-rounded perspective on the disease itself, challenges in diagnosis, therapeutics, clinical trials and rare disease policies. Additionally, Dr. Mishra and Prof. Bhattacharya discuss how cutting-edge technologies like gene editing and Induced Pluripotent Stem Cells (iPSCs) can aid in understanding the disease better and accelerating #diagnostics and #therapeutics. Finally, Prof. Bhattacharya shares his thoughts on ways forward.
The episode has useful insights for all listeners — individuals affected with GNE Myopathy, researchers or policy-makers interested in Rare Genetic Diseases, or someone who is curious and wants to hear personal stories of rare genetic patients.
Listen on Spotify here