I have a new column this week on OnlySky. It’s about the hope of genetic therapy to cure a particularly nasty disease.
Huntington’s disease is the paradigm example of DNA as destiny. If you have the mutant gene that causes it, you’re guaranteed to develop the disease. No lifestyle change can prevent it or slow its progression, and Huntington’s is inevitably fatal. It gradually kills brain cells, causing a host of terrible symptoms, from uncontrollable jerky movements to memory lapses to mood swings, and eventually dementia and death. From the first onset of symptoms, typical life expectancy is at most twenty years.
Until recently, there was nothing whatsoever that doctors could do for sufferers. But now medical science has provided a ray of light, in the form of an audacious experimental treatment that combines genetic therapy with brain surgery. It’s the first treatment that has clinical evidence to show that it slows the progression of the disease, and more advances may be coming soon, holding out the hope of a true cure.
Read the excerpt below, then click through to see the full piece. This column is free to read, but members of OnlySky also get special benefits, like member-only posts and a subscriber newsletter:
Targeting most internal organs is a challenging task as it is. But the brain, which is protected by the blood-brain barrier that blocks most drugs, seems like a nigh-impossible target for genetic therapy.
However, one team of scientists has made a breakthrough. uniQure, a gene therapy company from the Netherlands, has developed an experimental therapy called AMT-130.
AMT-130 uses an adeno-associated virus or AAV, a harmless virus that’s easily engineered to deliver genetic material of our choosing. The hard part is getting it where it needs to go: the striatum, a region deep inside the brain that’s involved in motor skills and cognition, and that suffers some of the most severe damage from Huntington’s.
Thanks for the article and link. I knew a Huntingtons family. The kids got to watch their father die of it. Daughter was normal, son got the bad gene. He told me he would check out when he started the great decline. When that time arrived he put his affairs in order, drove down the coast for two weeks, then drove off a high cliff into the Pacific. I respect his decision, and hope that shortly no one will have to make that choice.