HD Focus

If you’re a frequent reader of HDBuzz, you may have noticed that our articles increasingly thank Huntington’s disease (HD) families for their generous and selfless brain donations. That’s because more and more research is making use of human brains, leading to a better understanding of HD in people. All of that is only possible because of the fantastic HD community that supports HD researchers. So today, May 7th, on Brain Donation Awareness Day, we tip our hats to each and every HD family member who has very generously donated a brain to HD research. Serendipitously, this falls during HD awareness month!

Why is brain donation so important?

Humans are the only species that naturally get HD. We have lots of animals that model HD, but those have all been created in a lab. While they’re important for answering some types of questions about the disease, they can’t ever truly replicate every disease feature we see in people. To understand exactly what HD is doing, we need samples from people.

We wrote in August of 2023 about the US approval of a new drug to treat chorea, the movement symptoms of HD. That drug, valbenazine, commercially known as INGREZZA, has just been approved in a new format, one that can be added to soft foods. This news deserves a brief HDBuzz mention.

Chorea control

Valbenazine is one of a few drugs known as VMAT2 inhibitors. These treatments act on a chemical messenger called dopamine in the brain to reduce the involuntary movements of HD (chorea). VMAT2 inhibitors used for HD include tetrabenazine, deutetrabenazine (AUSTEDO), and valbenazine (INGREZZA), but there are a variety of other treatments prescribed to people with HD who experience chorea. A doctor might prescribe one over another based on a number of factors, including availability, cost, side effects, and control of other mood and behavioral symptoms.

Solutions for swallowing

Roma, 25 maggio 2024 Sala Mediateca, Via Nomentana 52   Il 25 maggio prossimo avrà luogo il nostro primo convegno annuale presso la Sala Mediateca, in Via Nomentana 52, sede della nostra associazione.   La dott.ssa Simona Petrucci, genetista medico, presenterà: “Approcci innovativi al trattamento della MH”.  Se finora i farmaci sperimentali hanno sempre mirato […]

L'articolo Convegno: Nuovi approcci al trattamento della Malattia di Huntington e nuovi farmaci sembra essere il primo su corea di huntington -AICH ROMA ONLUS -.

HDBuzz strives to be an honest and neutral source of information that Huntington’s disease (HD) families can turn to for trusted, unbiased reporting on research and clinical trial news. We’re honored to have become a global resource for the HD community over the years (14!) and we look forward to building upon the original mission of HDBuzz as we head into a new era. Read on to learn more about the new editors-in-chief and our plans for the transition.

The need for information

While we know it’s hard to fathom at this point, there once was a world before Google. In those dark ages, information was harder to come by. This was especially true for HD.

Often, the most people heard about HD was restricted to short blurb in a textbook, distilling HD down to a disease passed from generation to generation that one had a 50% chance of inheriting if their parent was affected. This limited picture was particularly disheartening for HD families seeking information. Seeking answers. Wondering what research was being done to find a treatment for this devastating disease.

Fisioterapia, logopedia e stimolazione cognitiva “… certi segni iniziali avevano ingenerato il sospetto della presenza di una patologia; le parole di un medico o il risultato del test genetico le avevano dato un nome e con esso la dolorosa certezza di trovarsi all’inizio di un percorso di graduale ma inevitabile cambiamento della vita così come […]

L'articolo 8 giugno | HUNTINGTON: CORPO E MENTE proviene da huntington-onlus.

Di che si tratta? Prof. Anna Rita Bentivoglio Responsabile UOS Disturbi del Movimento, Fondazione Policlinico Gemelli IRCCS, Roma I movimenti involontari, coreici e distonici (più lenti, cambiano la postura del busto e degli arti), sono i disturbi motori che più infastidiscono le persone con MH e anche persone con altri disturbi del movimento come per […]

L'articolo VALBENAZINA: UN NUOVO FARMACO CON INDICAZIONE PER LA MALATTIA DI HUNTINGTON sembra essere il primo su corea di huntington -AICH ROMA ONLUS -.

Drug hunters have been particularly interested in the repeating C-A-G letters of genetic code that lead to Huntington’s disease (HD). The number of CAG repeats gets bigger in vulnerable brain cells over time and may hold the key for slowing or stopping HD. Many scientists have been asking what happens to HD symptoms if we stop this expansion. Recent work from a group in London led by Dr. Gill Bates examined exactly this, seeking to define the threshold of CAG repeats needed to cause disease. Let’s discuss what her team found!

We’re all just alphabet soup

The genetic code of every living organism is made up of only 4 letters – C, A, G, and T. They’re combined in different ways to make every gene in our body. That’s a lot of diversity for just 4 letters!

Within the huntingtin gene that leads to HD is a stretch of repeating C-A-G letters. People with HD are born with 36 or more CAG repeats in the huntingtin gene. As a person grows older, we know the number of CAG repeats can shift and wobble in some cells, getting bigger over time.

 28 апреля в 12.00 часов состоится Информационный (поликлинический) день для семей с болезнью Гентингтона .На инфо дне вы получите бесплатные консультации у лучших специалистов в области изучения и лечения болезни… More »

The post Информационный ( поликлинический) день 28.04.2024 г. appeared first on Центр помощи пациентам с орфанными заболеваниями.

come vi avevamo anticipato, nel comunicato di marzo, il nostro periodico è sul sito e sarà inviato a tutti voi per mail. Lo troverete anche sui social. Inserire il periodico di AICH-Roma sui social è importante affinché le informazioni sulla ricerca, e sulla MH, siano divulgate a tanti anche a chi non è seguito dalla […]

L'articolo PERIODICO GENNAIO – APRILE sembra essere il primo su corea di huntington -AICH ROMA ONLUS -.

Prilenia Therapeutics B.V. vraagt toestemming voor het op de markt brengen van pridopidine

Een cruciale stap in het beschikbaar maken van pridopidine voor mensen met de ziekte van Huntington 

We are hugely grateful to Peter Yardley who is raising money in support of Huntington’s families with his new book through the sales of his book ‘An Anthology of Short Stories, Poems and Other Things.’ Peter’s late sister Myra had Huntington’s disease and his niece Gillian McNab – a Scottish

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The post Peter’s family experiences inspire new fundraising chapter in his life appeared first on Scottish Huntington's Association.

A mum of three from Lanark is ready to rock and raise funds in support of families – including her own – that are impacted by Huntington’s disease. Gillian McNab (54) has inspired four top local bands to join forces for SHA Rocks, a night of live music in aid

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The post Mum facing onset of Huntington’s disease organises rock night in support of families appeared first on Scottish Huntington's Association.

Enroll-HD RNA collection initative launched April 12, 2024 The Enroll-HD RNA collection initiative is now active! This initiative aims to create a high-quality, longitudinal RNA collection from at least 3,000 people with HD. Individuals across all stages of the disease life-course will be included, with a primary focus on premanifest and early manifest participants. Each […]

Scottish Huntington’s Association has been shortlisted for a prestigious award in recognition of our work with young people growing up in Huntington’s families. The National Youth Work Awards, hosted by YouthLink Scotland, celebrate the dedication and impact of youth workers and organisations across Scotland, highlighting their invaluable contribution to the

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The post We’re up for top award for vital work to empower young people appeared first on Scottish Huntington's Association.