cag-instability
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The latest volume of HD genetics research reveals new gems but also mysteries
Each person with HD has genetic spelling changes that can impact HD symptoms. Scientists have released the latest in a series of genetic studies examining these spelling changes, shining a light on new paths to develop treatments for HD.
By Dr Chris Kay -
Stopping C-A-G Repeat Expansion In Its Tracks
A new study shows that lowering MSH3, a key DNA repair protein, with antisense oligonucleotide (ASO) therapy can stop CAG repeat expansions in HD patient-derived brain cells. This could be a promising way to slow symptom onset and progression.
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Knockouts for the win: how expanding CAGs drive disease
A recent paper links CAG repeat expansion with widespread RNA changes, especially in brain cells vulnerable to HD. āKnocking outā certain DNA repair genes that go awry in HD can have positive effects on features of HD in mice.
By Dr Leora Fox -
Steadying genetic stumble could help slow Huntington's disease
Using CRISPR technology, scientists uncovered genes that control C-A-G genetic stumbles in Huntington's disease
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Huntingtonās Disease Clinical Expert Prof. Ed Wild Shares Hopeful View For 2025
The HDBuzz team caught up with editor emeritus and Huntington's disease specialist, Prof Ed Wild to hear his thoughts on what 2025 has in store for the Huntington's disease community
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New Insights Into Why Huntingtonās Disease Has Delayed Onset
A highly-anticipated scientific paper has landed! This new work challenges current theories in Huntingtonās disease research, uncovering how runaway CAG repeats erode cell identity in certain types of brain cells, leading to their death.
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Spotting HD Early: The Clues Hidden in Young Brains
Researchers have detected early changes in brain scans and biomarkers in young people with the Huntingtonās disease gene, 20 years before symptoms are predicted to appear. These findings could help develop medicines to treat HD earlier in life.
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2024: Year in Review
As we begin 2025, we look back on all of the Huntingtonās disease research news and progress the field has made in the last 12 months.
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Two birds, one stone: HTT-lowering drugs also target CAG expansions
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.
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Hats off to brain donors on Brain Donation Awareness Day
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.