healthcare.digital February 18, 2018
Imagine it is 2030. Ten-year-old Amy is wheeled into a children’s hospital clinic by her mother and, across town, 45-year-old Anh is visiting his oncologist one week after leaving hospital for his lung cancer operation.
Amy is slowly losing her ability to walk due to a muscle disorder that has only recently been given a name. Many diseases of muscle in children such as muscular dystrophy are caused by gene mutations (muscle disorders in adults are less likely to have a genetic mutation basis). In 2018, only around 40% of these mutations were known.
In 2030, we know 99% of mutations causing inherited muscle diseases worldwide. Because the costs of genetic sequencing are so much lower, more people have had...
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