Huntington’s disease sucks. There’s no two ways about it. I wouldn’t even wish it on my worst enemy (Randy). It’s a neurodegenerative disease that basically involves the brain slowly and irreversibly breaking down, resulting in depression and other psychiatric issues, loss of cognitive function, and loss of motor control. And the children of someone with the disease have a 50-50 shot of developing the disease themselves.

In a healthy person, a protein called huntingtin (no, autocorrect, not “huntington”) is produced, and while its exact function is not known, it is thought to play a role in neurologic development. It has a section that is supposed to repeat a certain number of times. When that gene is mutated, however, and repeats too often, it’s broken down into fragments that accumulate in the cell, impeding normal function. It most affects the striatum, which controls motion, and the cerebral cortex, which controls thinking and emotions.

In a simple yet elegant solution, researchers at the University College in London have developed IONIS-HTTRx (I’m guessing a cat was walking on the keyboard, and they went with it). The drug binds the mRNA — the molecule that takes the blueprint of the protein from DNA to ribosomes, which make proteins — for huntington. Huntington. HUNTINGTIN GOD DAMN IT AUTOCORRECT. The drug is injected directly into the fluid surrounding the brain and spinal cord. Yes, you can stop screaming now. The researchers were concerned there would be damaging inflammation, but the drug was handled very well. And  most importantly, it fucking worked! A significant drop in huntingtin was seen in the patients. It’s not known yet whether this drop in the protein would lead to halting or reversal of symptoms in humans, but that has been shown in animal experiments.

This is the first advance we have had in treatment for this disease in years. And as the disease is so easily identifiable genetically, what used to make it a terrifying time bomb now could allow us to provide early aggressive treatment to stop the disease in its tracks.


Mayo Clinic

University College of London

BBC News