HD Focus: News Across the Globe

Hello, everyone! I am truly honored to introduce myself as the newest columnist for the International Huntington Association’s online platform. Writing for this community is not only a privilege, but […]

Nu finns program för kvällen! Missa inte att anmäla er! Huntingtoncentrum i Lund bjuder in till en informationskväll den 7 april kl 18-20.30. Programmet innehåller intressanta ämnen, t.ex. uppdateringar om kliniska prövningar och forskningsläget i Sverige och internationellt. Det kommer även hållas olika föredrag om allt från socialt samspel till sväljsvårigheter. Även vi på RHS…

Inlägget Program för Huntingtoncentrums informationskväll 7e april ute nu! publicerades först på RHS Riksförbundet Huntingtons Sjukdom.

We’re back for the 3rd and final day of CHDI’s Huntington’s Disease Therapeutics Conference!

New Technologies and Breakthrough Science

This morning’s talks are kicking off with new technologies that have the potential of leading to breakthroughs in science for neurodegenerative diseases, like HD, and transform the field.

Ross Wilson: Molecular Scissors To Chop Out CAGs

Our first speaker is Ross Wilson, who is working on using CRISPR to selectively remove the disease-causing CAG repeats within the huntingtin gene. Whoa!

CRISPR is a molecular technique that began taking the scientific world by storm when it was broadly introduced in 2012. Just last year the first CRISPR-based drug was approved for blood diseases, like sickle cell anaemia.

You can think of CRISPR like molecular scissors. Researchers can use these molecular scissors to very precisely edit the genetic code to make all types of different changes. It’s a super powerful technique with many applications for diseases, including HD.

Vilans en de ergotherapeuten van Huntington KennisNet Nederland (HKNN) hebben de Hulpmiddelenwijzer geüpdatet. Mensen met de ziekte van Huntington, hun naasten en zorgprofessionals vinden hier nu actuele informatie over hulpmiddelen en praktische tips voor thuis.

De Vakgroep Ergotherapeuten van HKNN wilde haar expertise over hulpmiddelen en tips toegankelijk maken. Samen met Vilans bundelde ze deze kennis op één plek. Ergotherapeuten Louise Beerends en Lisette Kneepkens zijn enthousiast: “We bereiken nu meer mensen die ondersteuning zoeken bij dagelijkse activiteiten.”

Uitgebreide informatie
Annemieke Koning van Vilans benadrukt het belang van betrouwbare informatie. De Huntington-pagina biedt nu negen activiteiten met hulpmiddelen, tips en verdiepende links. Haar advies: “Kijk rond op de website en ontdek wat helpt.”

HDの患者・家族・医療従事者との交流から培ってきた経験を生かして、この病気に初めて接した方々のために、４つのテーマで情報提供の動画（各々５~６分の長さ）を製作しました。他の遺伝性神経難病の皆様のご参考にもなれば嬉しいです […]

We’re back for the 3rd and final day of CHDI’s Huntington’s Disease Therapeutics Conference! New Technologies and Breakthrough Science This morning’s talks are kicking off with new technologies that have the potential of leading to breakthroughs in science for neurodegenerative diseases, like HD, and transform the field. Ross Wilson: Molecular Scissors To Chop Out CAGs […]

Hello from Palm Springs! The HDBuzz team are here and ready to report on all of the exciting science that we are going to hear over the next 3 days from HD experts who have travelled from all over the world to be at CHDI's 20th Annual Huntington's Disease Therapeutics Conference. Get ready to follow along for some exciting Huntington’s disease research over the next 3 days!

Clinical Trial Updates

Our first set of talks are updates from pharma companies that have ongoing clinical trials.

PTC Therapeutics - PIVOT-HD Testing Votoplam

Up first is Amy-Lee Breadlau from PTC Therapeutics with an update on votoplam, formerly PTC-518. Votoplam is a HTT-lowering drug that’s taken as a pill. The idea is that by lowering the disease-causing protein, signs and symptoms of HD will be reduced.

Amy-Lee started by sharing the fantastic news that PTC has an exciting new collaboration with Novartis, a massive drug developer. PTC will complete the ongoing PIVOT-HD trial, but Novartis will be in charge of all future clinical trials, like their planned Phase 3.

We’re back for day 2 of the CHDI Huntington’s Disease Therapeutics Conference! We’re kicking things off with some exciting talks on genetic modifiers and learning how we can advance them toward therapeutics for HD.

Advancing Genetic Modifiers Toward Medicines

Today's session is all about genetic modifiers - genes that contribute to the age of disease onset - which were discovered through massive genetic studies that looked at levels of every gene in someone with the gene for HD. This let researchers identify genes that correlated with earlier or later HD onset. Genes related to somatic instability were identified as modifiers in large genetic studies, called GWAS, or genome wide association studies. Researchers are advancing GWAS data towards therapeutics. This wouldn’t be possible without the collaboration between scientists and the HD community. Super exciting!

Seung Kwak: It’s Not All About Somatic Instability

In a recent forum, three medical professionals came together to address pressing questions submitted by the Huntington's Disease...

Även i år är RHS medarrangör till Anhörigdagen i Göteborg tillsammans med Funktionsrätt, ABF, FUB, NKA, Sudieförbundet vuxenskolan och Västra götalandsregionen. Bland föreläsarna finns bland annat Andreas Forsén Johnsson med sin föreläsning ”Vi har prioriterat bort tjafs”. Att ta vara på livet och vad som blir viktigt när tiden är utmätt. Andreas lever med Henrik…

Inlägget Anhörigdag i Göteborg 8 maj publicerades först på RHS Riksförbundet Huntingtons Sjukdom.

We’re back for day 2 of the CHDI Huntington’s Disease Therapeutics Conference! We’re kicking things off with some exciting talks on genetic modifiers and learning how we can advance them toward therapeutics for HD. Advancing Genetic Modifiers Toward Medicines Today’s session is all about genetic modifiers – genes that contribute to the age of disease […]

Estudo busca mapear a realidade da DH no país e fortalecer políticas públicas para a comunidade Huntington A ABH – Associação Brasil Huntington prorrogou o prazo para participação na pesquisa nacional sobre a Doença de Huntington (DH). A iniciativa pioneira, que visa mapear a realidade da DH no Brasil, agora aceitará respostas da comunidade Huntington […]

O post Prorrogado prazo para participação de pesquisa inédita da doença de Huntington no Brasil apareceu primeiro em ABH - Associação Brasil Huntington.

Voor het tweede jaar loopt het campagneteam Huntington sport & sportevents mee met de 4 Daagse van de Nijmegen. De teamleden lopen verschillende afstanden maar allemaal met hetzelfde doel: zich laten zich sponsoren door familie, vrienden, collega's, bekenden en wellicht andere lopers onderweg.

In 2024 is een mooi bedrag opgehaald om het onderzoek naar een medicijn te bekostigen. In 2025 hoopt het team naast het bedrag te evenaren ook de ziekte bekendheid te geven, zij lopen in de bekende shirt van het campagneteam Huntington sport & sportevents. Dit shirt wordt bij talloze andere sportevents gebruikt zoals te zien is op de website van het campagneteam (https://www.cthsport.nl/). Dit jaar zijn ook rustposten te vinden langs de route zodat mensen even kunnen bijkomen maar waar de ziekte bekendheid wordt gegeven.

Hello from Palm Springs! The HDBuzz team are here and ready to report on all of the exciting science that we are going to hear over the next 3 days from HD experts who have travelled from all over the world to be at CHDI’s 20th Annual Huntington’s Disease Therapeutics Conference. Get ready to follow […]

It is with great sadness that we received the news that IHA Vice President Cao Xi has passed away, after a short illness.  Xi was also the Founder and President […]

Aktualizácia 26.2.2025 Zistilo sa ktoré gény majú na svedomí somatickú nestabilitu a ich vypnutie v myšom modeli zastavilo progres ochorenia. Originál článku tu. Aktualizácia 1.12.2023 Pridávam článok o tom ako a prečo dochádza k somatickej nestabilite. Podarilo sa im identifikovať proteíny, ktoré sú zodpovedné za predĺženie alebo skrátenie reťazca CAG. Začínajú sa objavovať pripravované štúdie zametané …

Somatická nestabilita Čítajte viac »

Ako iste vieme cvičenie je prospešné pri boji s HCH. Netreba ale zabúdať aj na mozog a jeho používanie, čítanie, učenie sa nových zručností pomáhajú pri spomalení progresu ochorenia. Niekoľko typov ako cvičiť svoj mozog a bojovať tak aspoň nejakým spôsobom proti HCH. Hádanky a hry: Krížovky, sudoku a pamäťové hry dokážu udržať váš mozog …

Kognitívny tréning Čítajte viac »

Three members of staff have been recognised for their long service to Scottish Huntington’s Association and the families we support. […]

URGENT: Demand No Cuts To Medicaid Congress is discussing MASSIVE cuts to Medicaid, which could drastically impact thousands of HD...

The post Demand NO CUTS to Medicaid! first appeared on Huntington's Disease Society of America.