HD Focus

ONE of Scotland’s fittest footballers has opened up on knowing he will one day develop the rare incurable genetic brain condition Huntington’s disease – and his refusal to let it stop him living a full and healthy life for as long as possible.  Cowdenbeath captain Robbie McNab, 27, discovered he

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A recent paper from a group at UMass Chan Medical School, spearheaded by Dr. Daniel O'Reilly and led by Dr. Anastasia Khvorova, used genetic strategies to lower a protein other than huntingtin. This time the researchers went after a gene called MSH3. This is a gene that’s been getting a lot of attention in Huntington’s disease research as of late. So what’s all the hype about? And does this mean we’ve abandoned huntingtin lowering?

CAG stutter

One of the most interesting findings in HD research in the past several years has been something called “somatic instability,” which is also sometimes called “somatic expansion.” It refers to the perpetual expansion of the CAG repeat in “somatic” cells, or cells of the body. You can think of it like a molecular stutter of the CAGs in the huntingtin gene.

Contents of this month's newsletter include: A note from our Chief Executive, Sorcha McPhillips staff team updates Book release—Huntington’s Disease Heroes Social events HDANI Support Groups Youth ...

Si è tenuta sabato 23 settembre, l’Assemblea degli Associati che aveva tra i punti all’ordine del giorno, l’elezione del Consiglio Direttivo che come riporta lo … Scopri di più

L'articolo Il consiglio direttivo, un’impronta familiare sembra essere il primo su Huntington Onlus.

Nieuwe deelnemers gezocht voor wetenschappelijk onderzoek

In het LUMC in Leiden is in 2021 een onderzoek gestart waarbij de onderzoekers kijken naar ijzer- en ontstekingsreacties in de hersenen. Zo hopen zij meer te leren over het ziektemechanisme en hopen ze biomarkers te vinden die specifiek zijn voor de ziekte en het verloop ervan. Deze biomarkers zijn belangrijk om de werking van mogelijke medicijnen in het menselijk lichaam te kunnen volgen.

Voor dit onderzoek zijn de onderzoekers momenteel op zoek naar nieuwe deelnemers die géén gendrager zijn.

 Meer informatie over het onderzoek

This year’s Family Gathering and AGM will take place on Saturday 4 November at DoubleTree by Hilton Dunblane Hydro, Perth Road, Dunblane. It is open to everyone whose life is impacted by Huntington’s disease, including those who have the disease or are at risk of developing it, carers and loved

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Lanarkshire accountant John Moffat has taken on a whole new counting challenge that will see him do more than 1.5 million steps for families impacted by Huntington’s disease. The 55-year-old Chief Executive Officer and colleagues at Benson Wood + Co in Bellshill have been inspired to support Scottish Huntington’s Association

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The post John goes for 1.5million steps in 100-day walking challenge appeared first on Scottish Huntington's Association.

Genetic modifiers can influence when HD symptoms begin. Some of these genes encode for different types of molecular machines whose normal job is to repair our DNA when it is broken or damaged. A recently published study from scientists at Thomas Jefferson University uncovers details of how these molecular machines help repair damaged DNA structures that can occur in HD, revealing a complicated balancing act.

In this article, we explore what the scientists found, how this can help us understand how different modifiers work to alter the path of HD, and ways these new insights might guide development of new therapies.

Genetic modifiers of HD change the age at which symptoms appear

Every case of HD is caused by the same genetic change, the extension of a long stretch of the letters “CAG” in the Huntingtin gene. An intriguing mystery in HD research has been the fact that folks with the exact same CAG number can often start to get symptoms at very different ages.

È in programma per sabato 23 settembre l’Assemblea degli Associati di Huntington Onlus La rete italiana della malattia di Huntington. All’ordine del giorno, tra gli … Scopri di più

L'articolo Lista Impronta familiare – Assemblea dei Soci sembra essere il primo su Huntington Onlus.

The vast majority of people with Huntington’s disease experience movement symptoms known as chorea. Valbenazine, also known as INGREZZA, has recently been approved by the United States Food and Drug Administration (FDA), allowing doctors in the USA to prescribe this medicine for Huntington’s disease (HD) chorea. In this article we go through the key points of this announcement and what it means for HD family members.

Background on valbenazine

INGREZZA is the trade name of valbenazine, a drug developed by the company Neurocrine Biosciences. It works similarly to tetrabenazine and deutetrabenazine (Austedo), drugs commonly prescribed to help control the involuntary twitching or jerking movements that people with HD experience.

When civil servant Liam Anderson signed up for the London Marathon in support of the Huntington’s community, he had no idea how much it would inspire his own family. The 31-year-old tried unsuccessfully for 10 years to win a ballot place in the world-famous run – then Scottish Huntington’s Association

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The post Liam’s determination inspires whole family to get involved appeared first on Scottish Huntington's Association.