Huntington’s disease research news. In plain language. Written by scientists. For the global HD community.
Nearly a thousand HD family members converged on Baltimore, Maryland for the 2016 Huntington’s Disease Society of America’s Annual Convention. We normally don’t write reports from patient and family conferences, but there was something special about the atmosphere of this year’s Convention that compelled us to pen a brief update.
When the ‘healthy’ HD gene functions as it should, one of its many jobs is in the development of normal embryos. Researchers have long assumed that the ‘mutant’ HD gene inherited by people with HD is still able to do this job, since HD patients develop normally and don’t show signs until later in life. A surprising new finding suggests we may have to think carefully about this assumption!
Figuring out the shape of a protein can help scientists understand how it works and what goes wrong in disease. Huntingtin, the protein that causes Huntington's disease, has been an elusive target. A recent study using electron microscopes offers a striking glimpse of huntingtin, paving the way for future work.
Clumps of mutant huntingtin protein in brain cells are a hallmark of HD, and they build up slowly, occupying more and more cells over time. Recent research in mice shows that the harmful proteins can travel between neurons, setting off a chain reaction that leads to more sick cells and the development of symptoms.
It’s a great mystery why different people with the same HD mutation sometimes develop symptoms at vastly different ages. Last year a huge genetic analysis gave us some interesting clues, and now, researchers are focusing in on the most promising results. A recent study shows that tiny changes within genes that repair damaged DNA can have a big effect on age of onset in HD and related diseases.
Cognitive deficits, or difficulties thinking clearly, often appear well before the traditional clinical diagnosis of Huntington’s disease (HD). While many contend that the earliest cognitive deficits are caused by damage to the striatum – a structure deep in the brain known to be severely affected in HD – recent evidence suggests that this claim may paint an incomplete picture of the widespread changes occurring in the brains of HD patients during the very early stages of the disease.
A recent article in the UK newspaper the Daily Telegraph has HD families very excited. The title, "First drug to reverse Huntington’s disease begins human trials", certainly sounds exciting! But what's really going on? HDBuzz is here to help us untangle hope from hype in the huntingtin lowering world.
The third and final day of the 2016 Huntington's Disease Therapeutics Conference brings updates on cell replacement therapies including stem cells; and new ways to assess and model the progression of HD to help understand it and run crucial clinical trials.
After an exciting day of science yesterday, day 2 saw updates on strategies to rid cells of the harmful mutant huntingtin protein and exciting reports on current and planned clinical trials.
If it's February, that means the the world's leading scientists are converging on Palm Springs for the annual HD therapeutics conference!