Category: Research

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

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. Normal HD gene function The mutation that causes HD instructs brain cells to make…
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A support system gone wrong – glial cells contribute to HD symptoms

A new piece of research has implicated a type of brain cells called glia in the development of HD symptoms. Regular mice injected with glial cells carrying the mutant huntingtin gene in the study developed symptoms associated with HD. Interestingly, this influence appears to work both ways — a mild reduction in disease symptoms was…
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Slightly long CAG repeats are more common than we thought

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…
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Study reveals how oxidative stress causes damage in incurable Huntington’s disease

In a new study, Johns Hopkins Medicine researchers identified the mechanism through which oxidative stress specifically damages nerve cells in Huntington’s disease. Human cells regulate oxidative stress in many ways, but the process involving amino cysteine may play a key role. Because cysteine deficiency and oxidative stress have been linked to other diseases, such as…
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Promising research from CHDI’s 2016 Conference – subtiteled in many languages!

In this video 'Postcard from Palm Springs 2016', HD family advocate and former NBC reporter Charles Sabine presents highlights from CHDI's 11th Annual Disease Therapeautics Conference, a Forum for Drug Discovery and Development which ran from February 22nd to 25th this year in Palm Springs California. The message is overwhelmingly positive; a 'new age of…
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Electron beam snaps best images yet of Huntington’s disease protein

Electrons enable huntingtin protein, the cause of Huntington’s disease, to be visualised at highest resolution ever 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…
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Study Finds Prenatal Testing for Huntington’s Should Include Psychological Support

Magdalena Kegel reports on huntingtonsdiseasenews.com that new research from University Hospital Pitié-Salpêtrière at Sorbonne University, France indicates that couples at risk of transmitting Huntington’s disease to their children need more psychological support before pre-natal testing of the embryo’s genetic status, and additional counseling should they choose to reproduce again. In practice, about 5-25% of men and women at risk for…
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Enroll-HD Monthly News Bulletin – June 2016

June 2016 Monthly News Bulletin Latest Enroll-HD data release The second Enroll-HD periodic dataset that includes the clinical data from 4146 participants is now available on the Enroll-HD website to any researcher employed at a recognized research institution or company. You can learn more about the types of data and biosamples that are available and…
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10,000 now signed up to Enroll-HD!

On April 8 2016, Enroll-HD reached a milestone as the 10,000th person signed up to be part of the study. That person joined 9,999 others in the worldwide collaborative effort to understand more about HD and provide an infrastructure for more and better research and provide an infrastructure for more and better research, including clinical…
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Important drug targets yielded by new genetic study of HD

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…
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