A highly-anticipated scientific paper has landed! This new work challenges current theories in Huntington’s disease research, uncovering how runaway CAG repeats erode cell identity in certain types of brain cells, leading to their death.
Researchers have detected early changes in brain scans and biomarkers in young people with the Huntington’s disease gene, 20 years before symptoms are predicted to appear. These findings could help develop medicines to treat HD earlier in life.
There’s more good news in the forecast in the Huntington’s disease therapeutic space as we receive positive results from Skyhawk Therapeutics about their small molecule SKY-0515 that lowers huntingtin and targets somatic expansion.
In a surprising twist, oral HTT-lowering drugs also slow somatic expansion in the HTT gene. A new study that used cells in a dish for this fortuitous discovery identified the gene PMS1 as a key player in the slowing of CAG expansions.
May 7 is Brain Donation Awareness Day. Today we highlight the selfless donation that many HD families have made, sending our gratitude, sharing research updates made with those precious brains, and detailing resources for brain donation.
New work from researchers in London uses mice to narrow in on the number of CAG repeats needed to cause symptoms of Huntington’s disease. Their work points to fewer than 185 CAGs as a threshold.
Scientists in Massachusetts have recently advanced our understanding of how repetitive sequences in DNA can disrupt the creation and editing of genetic messenger molecules in cells, and how this could lead to the production of harmful proteins.