Research articles

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HDBuzz is a collaboration of scientists who write Huntington’s disease research news in plain language for the global HD community. They have allowed us to retrieve their articles for the NSW ACT Huntington’s community.

Westmead HD Service

In addition to providing multi-disciplinary care to the NSW Huntington’s community, the service has been involved in local and major international research studies since its establishment at Westmead Hospital in 1995. Hundreds of volunteers have generously participated in research to better understand the disease and in the search for effective treatments.

Westmead Hospital is a HSG Credential Research Site. Professor Clement Loy is the Principal Investigator for this site.

Global research collaboration

The Huntington Study Group (HSG), is the world’s first HD cooperative therapeutic research organization. Today, HSG is a world leader in facilitating high quality clinical research trials and studies that bring us closer to finding more effective treatments for HD and reducing the burden of HD for families affected by the disease.

HSG is an organization of compassionate professionals dedicated to finding treatments that make a difference, providing rigorous care initiatives, and improving the quality of life and outcomes for HD families. How? By bringing together families, medical professionals, clinical researchers, HD advocacy groups, and sponsors to raise awareness of HD, share knowledge and best practices, and develop innovative treatments.

Words from HSG website.

How NSW contributes to research

Treatment for neurological disorder could be repurposed for Huntington’s disease patients

Published date: 22 October, 2020

While developing a drug called branaplam for patients with SMA, the pharmaceutical company Novartis discovered that it could hold promise for people with HD. The FDA has granted a special status called Orphan Drug Designation to branaplam. An existing drug…for huntingtin lowering? The pharmaceutical company Novartis has announced that the U.S. Food and Drug Administration ... Read more

Sad news from the SIGNAL study: pepinemab does not influence HD symptoms

Published date: 23 September, 2020

The SIGNAL clinical trial was designed to test a drug called pepinemab in people with early Huntington’s disease. The key results of that trial were recently announced, and unfortunately, pepinemab did not slow or improve HD symptoms as hoped. What was the SIGNAL trial, and who participated? The SIGNAL trial was launched in 2015 by ... Read more

When genes are unstable: targeting somatic instability in HD

Published date: 8 September, 2020

What is somatic instability? We tend to think of DNA as a fixed blueprint, an overarching plan for the biological bricks and bridges that constitute our cells, organs, and bodies. But like any good plan, DNA is actually dynamic and adaptable. It gets frequent use as a template for creating the RNA messages that pave ... Read more

Working as a team: Changes in brain development mean some brain regions may be slacking off

Published date: 17 August, 2020

The effect of the HD genetic expansion on brain development has been a hot topic in HD research. A team of researchers led by Dr. Sandrine Humbert at the Grenoble Institut Neurosciences, examined human fetal tissue to show that the mutant HD gene causes very early changes in the patterns of early brain development. But ... Read more

Caution urged for the use of gene-editing technology CRISPR

Published date: 12 August, 2020

A gene-editing tool known as CRISPR has been heralded as a breakthrough technology for scientists in the lab but also as a potential strategy to treat numerous genetic diseases, including Huntington’s. But a series of recent studies has suggested that CRISPR is less precise than previously thought, leading to unintended changes in the genome. Three ... Read more

HD and Histamines: Targeting Hybrid Receptors to Quiet Stressful Brain Talk

Published date: 15 July, 2020

Dopamine is an important chemical messenger in the brain that becomes imbalanced in Huntington’s disease. Researchers recently described a creative way to restore the balance and treat symptoms in HD mice, using an antihistamine drug that acts on hybrid dopamine receptors. It’s an innovative approach to HD therapeutics, but don’t start reaching for allergy meds ... Read more

Changing jobs: converting other cell types into neurons

Published date: 23 June, 2020

Researchers have known for quite some time that HD causes a progressive loss of neurons. But what if we could find a way to fill their place? In a new report, researchers used an intriguing strategy in living mice to do just that – they converted a different type of brain cell into neurons, with ... Read more

HD Young Adult Study defines the sweet spot: symptom-free with measurable changes

Published date: 27 May, 2020

A new study headed up by Dr. Sarah Tabrizi, a pioneer in HD research, assessed pre-manifest HD young adults many years from predicted symptom onset with a battery of clinical tests. The goal of this study was to identify a sweet spot – a time when HD participants weren’t experiencing any observable symptoms, but when ... Read more

Fountain of youth: HTT protein repairs neurons by maintaining youthful state

Published date: 13 May, 2020

A team of scientists has recently published their findings on how our bodies are able to repair brain and spinal cord injuries. They found that the huntingtin protein plays an important role in repairing damaged nerve cells. Repairing nervous system damage – the holy grail of medical science It has long been the ambition of ... Read more

Light and Sleep

Published date: 7 April, 2020

Light & sleep Neurofilament Light Protein and Lifestyle Factors Commentary Words Dr Travis Cruickshank and Dr Danielle Bartlett

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Research articles

Westmead HD Service

Global research collaboration

How NSW contributes to research

Treatment for neurological disorder could be repurposed for Huntington’s disease patients

Sad news from the SIGNAL study: pepinemab does not influence HD symptoms

When genes are unstable: targeting somatic instability in HD

Working as a team: Changes in brain development mean some brain regions may be slacking off

Caution urged for the use of gene-editing technology CRISPR

HD and Histamines: Targeting Hybrid Receptors to Quiet Stressful Brain Talk

Changing jobs: converting other cell types into neurons

HD Young Adult Study defines the sweet spot: symptom-free with measurable changes

Fountain of youth: HTT protein repairs neurons by maintaining youthful state

Light and Sleep

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