Episode description

A computer scientist fascinated by the genetic code and its application to rare disease, Rudy Benfredj moved into healthtech and cofounded Mendelian. Mendelscan, their core technology helps identify patients at risk of developing a rare disease early. We touch on the patient’s diagnostic odyssey on their way to being diagnosed with a rare disease, the stats around rare diseases and how being diagnosed earlier can help patient lives. Previously siloed into multiple niches, rare diseases are now a major field with rapidly evolving rare disease patient communities and large research funding allocations. 

I used to a be a radiologist in the NHS and rare diseases are an interest to me too. From Fabry’s disease to Tuberous Sclerosis and Lymphangioleimyomatosis, radiologists are trained over years to seek out multi-system patterns of these rare diseases. But how if an algorithm could do this at the level of the electronic patient record? This is a really fascinating dive into the world of rare diseases. I hope you enjoy this episode.