A man with an uncommon type of motor neuron disease experienced improved symptoms and continued to work as a physician a year after becoming the first person to receive a drug designed to target the specific genetic mutation that causes his disease1. Researchers say the early results are exciting and lay the foundation for more treatments for neurodegenerative diseases caused by rare mutations. The man had a slowly progressing form of motor neuron disease, also called amyotrophic lateral sclerosis (ALS), caused by a rare mutation that leads to protein build-up that contributes to the death of motor neurons. He received an RNA treatment called antisense oligonucleotide therapy. Unlike typical gene therapy, which alters a person's genes to treat a genetic disease, antisense oligonucleotide therapy, uses short strands of genetic material to target RNA produced by the gene and reduce how much protein is made. The results are published in Med this week. Steve Vucic, a neurologist and ALS...
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