DIAGNOSIS was the obsession of this California geneticist whose daughter’s symptoms confounded him. He ended up cracking the rare disease genotype after a decade of hounding docs and eventually doing most of the sequencing on second-hand equipment. This compelling story amply describes how many parents just want to know a diagnosis regardless of whether there is a treatment. This is the case with muscular dystrophies and other rare neuromuscular diseases.
http://lnkd.in/q4sQTj
linkedin post 2022-06-29 05:12:48
Nigel Fleming
September 21, 2022