Huntington’s disease research news. In plain language. Written by scientists. For the global HD community.

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Articles with the topic: genetics

Ultra-rare mutations highlight the importance of the HD gene in brain development

Ultra-rare mutations highlight the importance of the HD gene in brain development

Megan Krench on August 29, 2016

A relatively new technology called exome sequencing has identified a few families with novel mutations in their HD genes. These are different than the mutation that causes HD, but allow researchers to better understand the normal role of the HD gene.

Slightly long CAG repeats are more common than we thought

Slightly long CAG repeats are more common than we thought

Dr Jeff Carroll on July 05, 2016

Everyone with Huntington's disease has inherited the same type of mutation from their mother or father, an extra-long repetitive stretch of the sequence C-A-G in their HD gene. But the length of the mutation varies between individuals, and longer repeats are associated with earlier onset of symptoms. A huge new international study reveals that slightly longer-than-normal CAG stretches are much more common than we thought. Surprisingly, this turns out to be good news.

Important drug targets yielded by new genetic study of HD

Important drug targets yielded by new genetic study of HD

Leora Fox on May 02, 2016

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.

Huntington's Disease Therapeutics Conference 2016 - day 1

Huntington's Disease Therapeutics Conference 2016 - day 1

Dr Ed Wild on February 25, 2016

If it's February, that means the the world's leading scientists are converging on Palm Springs for the annual HD therapeutics conference!

Huge study reveals new 'genetic modifiers' of Huntington's disease

Huge study reveals new 'genetic modifiers' of Huntington's disease

Dr Jeff Carroll on July 31, 2015

Even though every patient with Huntington's Disease has a mutation in the same gene, the age at which HD patients develop symptoms varies widely. A global consortium of HD researchers has just published a landmark study of genetic differences between people that might explain some of that variability, producing some tantalizing new targets for drug discovery efforts.

Switching it up: variety in the HD gene affects symptom onset

Switching it up: variety in the HD gene affects symptom onset

Melissa Christianson on May 29, 2015

Just like it is difficult to predict exactly when a storm will hit, predicting when Huntington’s disease symptoms will arise for any particular person is hard to do. However, new research suggests that tiny changes in the on switch of the Huntington’s gene affect symptom onset – and may provide important information in the search for Huntington’s therapies.

Building a Better Mouse(trap): A New Model of Huntington’s Disease

Building a Better Mouse(trap): A New Model of Huntington’s Disease

Melissa Christianson on March 16, 2015

Most research on Huntington’s disease is done using animal models that mimic the human disease. However, these models typically recreate only a few of the disease’s symptoms, and there are some important symptoms that don’t show up in any model at all. Now, exciting new research is making great strides against these problems – and teaching us about the disease at the same time.

Drug Improves Huntington’s Symptoms in Mice – and Their Offspring

Drug Improves Huntington’s Symptoms in Mice – and Their Offspring

Melissa Christianson on February 09, 2015

In Huntington’s Disease, one of the many problems arising from the disease mutation is that DNA gets folded incorrectly. A new study in mice reveals that a drug changing the way DNA folds may have beneficial effects in Huntington’s – even for the untreated offspring of treated individuals. This discovery could affect how we think about drug therapies for Huntington’s Disease.

'Buzzilia' from the Huntington's Disease World Congress: day 3

'Buzzilia' from the Huntington's Disease World Congress: day 3

Dr Ed Wild on September 17, 2013

Our third daily report from the World Congress on Huntington's Disease in Rio de Janeiro, Brazil.