How close are we to a cure for Huntington’s?

It came completely out of the blue,” says James*. They had thought it was his father’s knees that were the problem – he was never comfortable and was constantly shifting them. “He went to the doctor, and he said, ‘You have got osteoarthritis.’ So that was put to bed for a few months.” But that wasn’t the end of it. James’s father deteriorated and consulted a different GP, who said, “Don’t worry about your knees, why are you moving so much? Why can’t you keep still? I’m going to refer you to a specialist.” James and his mother started to realise that his father’s movements were nothing to do with his knees. That was a smokescreen. The real cause was Huntington’s disease.

First characterised in 1872 by the American physician George Huntington, the disease is one of the cruellest, coldest killers on Earth. It’s caused by a mutation of the HTT gene, which creates a toxic protein that gradually destroys vast tracts of the brain, eventually removing all the person’s mental faculties. This mutated gene is dominant, meaning that only one of your two copies of HTT needs to be faulty for you to have Huntington’s. If one of your parents has the disease, there’s a 50 per cent chance of you inheriting it.

For those who know they are at risk, life has always been an agonising waiting game. There is no cure, and symptoms on average begin in the mid-40s (it then usually takes around 15 years to kill). Indeed, for more than 100 years after the disease was characterised, those at 50:50 risk of inheriting it had no way of ending the uncertainty until the symptoms started.

It was only around 50 years ago that the condition began to emerge into the light of day. On 3 October 1967, the folk singer Woody Guthrie died in New York from what was then called Huntington’s chorea (chorea is the Greek word for dance and refers to the uncontrollable movements made by people with the disease). A few months later, Leonore Wexler – wife of Milton Wexler, a prominent American psychoanalyst – was diagnosed with the same condition.

Reference:

• An overview of the disease and the discovery of the gene responsible, published in Nature Education.
• An overview of genetic testing options for Huntington’s, created by the Huntington’s Outreach Project for Education at Stanford University.
• Ionis Pharmaceuticals press release about the trial’s results and Roche exercising its option to license IONIS-HTT_Rx.
• HDBuzz, which provides Huntington’s disease research news.