A Brief History of ALS

In a particularly poignant scene in the movie The Theory of Everything, a 21-year-old Stephen Hawking, full of excitement toward unlocking the secrets of the universe, learns of his debilitating diagnosis of amyotrophic lateral sclerosis (ALS). The year is 1963. He asks his doctor whether his brain will still be able to function in a landscape where the neurons controlling every aspect of his movement are rapidly dying. ‘‘Yes’’ says the doctor, unsure of what respite this piece of information could possibly give a youngman facing a tragically short life ahead of him. Cut chase to 2015, and we are perhaps no closer to identifying the definitive cure for this particularly brutal but most common form of motor neuron disease. Only 10% of ALS cases are familial, and we do not yet know what the cause or causes can be for the majority of others. After diagnosis, patients typically do not survive any longer than 2–5 years. In this era of sequencing and big data, what we do have, however, is an increasingly useful treasure trove of information that can be mined to dissect out the complexity of this disease.