HD Focus

Maj är den officiella månaden där människor över hela världen uppmärksammar Huntingtons sjukdom. I år har den europiska huntingtonföreningen (EHA) tillsammans med patientföreningar över hela världen gått samman för att uppmärksamma sjukdomen genom en gemensam social media kampanj där dansen är i centrum. Med en medryckande rytm från Katy Perrys låt Firework och ett positivt…

Inlägget Dansa med oss i maj- Huntington Awarness Month publicerades först på RHS Riksförbundet Huntingtons Sjukdom.

A Associação Europeia lançou-nos um desafio  #Huntington dance. A Ideia é cada associação fazer um mini video com a compilação de alguns momentos da coreografia ao som da música da Katie Perry. Vamos a isto? partilhamos com vocês a coreografia e o video explicativo. Basta filmarem um pequeno momento da coreografia da musica e podem enviar …

Maio Mês da Consciencialização para a Doença de Huntington Read More »

Lauren Boag from Insch, Aberdeenshire, has been shortlisted for this year’s Volunteer of the Year at the Scottish Charity Awards. The 37-year-old volunteer fundraiser has raised over £35,000 for Scottish Huntington’s Association so far – an achievement made even more remarkable given the demands of a busy home life and

Read More

The post Inspiring fundraiser is shortlisted for this year’s Scottish Charity Awards appeared first on Scottish Huntington's Association.

Со светлым, волнующим и незабываемым Днём Победы искреннее поздравляем от всей души! Пусть этот день навсегда останется в наших сердцах небывалой гордостью за мужество нашего народа, за его беспримерный героизм… More »

The post С Днем Победы! appeared first on Центр помощи пациентам с орфанными заболеваниями.

Deelnemers gezocht voor een groepsinterview over de betrokkenheid van bedrijven bij onderzoek met hersen-organoïden

 Wat zijn hersen-organoïden en wat kun je ermee?

Momenteel wordt veel onderzoek gedaan naar hersen-organoïden, ook wel mini-breintjes genoemd. Organoïden worden gemaakt in het lab, door donorcellen van een mens te laten groeien in 3D. Met hersen-organoïden kan onderzoek gedaan worden naar verschillende hersenziektes, zoals Huntington. Om onderzoek met organoïden te versnellen en te verbeteren, wordt er door de universiteit vaak samengewerkt met bedrijven. Deze bedrijven gebruiken organoïden bijvoorbeeld om nieuwe medicijnen te maken en te testen.

Wat willen wij onderzoeken?

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.