ALS: Beyond Stephen Hawking and the Ice Bucket Challenge
Most people first heard of ALS — Amyotrophic Lateral Sclerosis — either through the extraordinary life of Stephen Hawking or the viral Ice Bucket Challenge of 2014. But ALS is far more than a social media moment or a single famous patient. It is a devastating, progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord — and it deserves our full attention.
What Is ALS?
ALS (also known as Motor Neurone Disease or MND) causes the progressive degeneration and death of motor neurons — the nerve cells that control voluntary muscle movement. As motor neurons die, the brain loses its ability to initiate and control muscle movement. Eventually, all voluntary muscle control is lost, including the ability to speak, swallow, and breathe. Most people with ALS die from respiratory failure, typically within 3–5 years of symptom onset. Stephen Hawking was a remarkable exception, living with ALS for over 50 years.
Who Gets ALS?
ALS affects approximately 2 in 100,000 people worldwide
It most commonly affects people between the ages of 40 and 70
Men are slightly more likely to develop ALS than women
About 90–95% of ALS cases are sporadic (no clear family history); 5–10% are familial (inherited)
The Genetics of ALS
Familial ALS is caused by mutations in several genes, the most common being:
C9orf72 — the most common genetic cause of both familial ALS and frontotemporal dementia (FTD); accounts for ~40% of familial ALS cases
SOD1 — the first ALS gene discovered; accounts for ~20% of familial ALS cases
FUS and TARDBP — each account for ~5% of familial ALS cases
Even in sporadic ALS, genetic factors play a role — multiple common genetic variants have been identified that increase susceptibility to the disease.
The Ice Bucket Challenge Legacy
The 2014 Ice Bucket Challenge raised over $115 million for ALS research — funding that directly contributed to the discovery of the NEK1 gene as a risk factor for ALS, one of the most significant genetic discoveries in ALS research. It was a powerful demonstration of how public awareness and fundraising can accelerate scientific progress.
Genetic Testing and Counselling for Neurological Conditions
MapmyGenome offers Whole Exome Sequencing and certified genetic counselling for individuals and families with a history of ALS, motor neurone disease, and other hereditary neurological conditions.
