HD Focus

Every May, communities around the world come together to shine a light on Huntington’s Disease (HD). From families and caregivers to clinicians, researchers, and advocates, we are united by one […]

You’re invited to take part in a powerful and creative project that gives voice to the lived experience...

May is Huntington’s Disease Awareness Month a time to uplift the voices of those impacted, challenge stigma, and spotlight the strength that lives within our community. For me, this month […]

Bella, an Advanced Breathwork Facilitator and Reiki Practitioner based in Sydney, knows the heavy silence that often surrounds...

La Dott.ssa Caterina MARIOTTI, neurologa presso l’Istituto Neurologico Carlo Besta di Milano, ha accettato l’invito dell’Associazione a partecipare all’annuale assemblea degli Associati, tenutasi il 12 aprile scorso. “Il mio intervento oggi vuol portarvi un aggiornamento sugli studi clinici e sulle sperimentazioni farmacologiche che sono attualmente in corso presso il nostro Istituto. Partirei dagli studi clinici […]

L'articolo Huntington | Ricerca e sperimentazioni: un impegno costante proviene da huntington-onlus.

April was blooming with fresh updates from the world of Huntington’s disease (HD) research, and we’ve got your highlights right here! At HDBuzz, we’re always on the lookout for promising science, innovative ideas, and stories that bring hope. This month, we covered exciting breakthroughs in basic research, important clinical trial updates, and fresh perspectives on […]

A new study led by researchers at University College London explored a promising new way to potentially slow down Huntington disease (HD) by reducing the levels of a key DNA repair protein, called MSH3. Using antisense oligonucleotides (ASOs)—a type of genetic therapy that targets RNA—the researchers successfully stopped C-A-G repeat expansions in lab-grown brain cells derived from people with HD. Their findings highlight a potential treatment approach that could help delay onset of symptoms and progression of HD.

How Expanding C-A-G Repeats May Drive HD

HD is a genetic brain disorder caused by an expansion of C-A-G repeats in the huntingtin (HTT) gene. Everyone inherits two copies of the HTT gene, one copy from each of their parents. While everyone has some C-A-G repeats in their two HTT genes copies, people with HD inherit a copy HTT with too many C-A-Gs.

Research has shown that in certain brain cells, particularly medium spiny neurons - the cells most affected in HD - these C-A-G repeats can continue to grow over time in a process called somatic expansion.

Aktualizácia 24.4.2025 Vyradením MSH3 proteínu pomocou ASO sa v darovaných mozgových bunkách podarilo zastaviť somatickú nestabilitu. Prekvapivým zistením, je že pri vyradení MSH3 sa výrazne spomalil nárast počtu opakovaní CAG. Testy prebiehali na geneticky upravených myšiach. Je niekoľko spoločností ktoré sa zameriavajú na znižovanie MSH3. Snáď sa dočkáme v relatívne krátkej dobe aj testoch na …

Somatická nestabilita Čítajte viac »

Two recent studies offer fresh insights into how antidepressants, often prescribed to help manage mood and anxiety, are prescribed in Huntington’s disease (HD) and might also influence cognitive decline. One study zooms in on medication use in HD, while the other takes a broader look at dementia and antidepressants. Together, they reveal a complex and […]

Farmaceut Roche kondigt aanpassingen aan in het GENERATION HD2-onderzoek op basis van een tussentijdse analyse. De studie gaat door, maar in de resterende duur zal alleen de dosis van 100 mg worden gebruikt. De dosis van 60 mg komt te vervallen.

De internationale farmaceut Roche heeft een update gegeven over de lopende klinische studie naar tominersen, een experimentele therapie die het huntingtine-eiwit verlaagt bij mensen met de ziekte van Huntington. Een onafhankelijke datamonitoringscommissie (iDMC), die toezicht houdt op de veiligheid en voortgang van het onderzoek, heeft geadviseerd om het onderzoek voort te zetten, met één belangrijke wijziging: voortaan wordt alleen de hogere dosis (100 mg) van het middel verder getest.

Two recent studies offer fresh insights into how antidepressants, often prescribed to help manage mood and anxiety, are prescribed in Huntington’s disease (HD) and might also influence cognitive decline. One study zooms in on medication use in HD, while the other takes a broader look at dementia and antidepressants. Together, they reveal a complex and evolving map of treatment decisions. But this doesn’t mean people living with HD should stop taking antidepressants. Let’s dig into why that is.

Evolving HD Medication Landscape

The first study examined medication use among people with HD, using data from thousands of people in Enroll-HD, the largest observational study of the disease. Among other things, Enroll-HD collects data on what medications are most commonly used during HD care. One striking finding? A staggering 84% of people with HD use at least one medication, with this number climbing as the disease progresses.

In the early stages, people with HD take an average of 2.5 medications. But as the disease advances, that number more than doubles to 5.2. This really highlights just how much a person’s medical needs change as HD progresses.

Farmaceut Roche kondigt aanpassingen aan in het GENERATION HD2-onderzoek op basis van een tussentijdse analyse. De studie gaat door, maar in de resterende duur zal alleen de dosis van 100 mg worden gebruikt. De dosis van 60 mg komt te vervallen.

De internationale farmaceut Roche heeft een update gegeven over de lopende klinische studie naar tominersen, een experimentele therapie die het huntingtine-eiwit verlaagt bij mensen met de ziekte van Huntington. Een onafhankelijke datamonitoringscommissie (iDMC), die toezicht houdt op de veiligheid en voortgang van het onderzoek, heeft geadviseerd om het onderzoek voort te zetten, met één belangrijke wijziging: voortaan wordt alleen de hogere dosis (100 mg) van het middel verder getest.

A Journey of Connection, Courage, and Hope Why attending conferences can truly change your life – Written by Claudia Villa on 16th April 2025 Huntington’s disease…

Scottish Huntington’s Association is co-hosting a unique webinar presented by Woody’s grand-daughter Anna Canoni, President of Woody Guthrie Publications. As […]

Real progress is being made on the road to Huntington’s disease (HD) treatments, but in today’s fast-moving digital world, it can be harder than ever to separate genuine breakthroughs from overhyped headlines or flat-out misinformation. That’s why HDBuzz has updated our Ten Golden Rules to help you decide whether a piece of news about HD […]

Recently, during a HIPE discussion the conversation shed light on the complexities of managing chorea, a involuntary movement frequently...

Aktualizácia 11.12.2024 UniQure požiadalo FDA o zrýchlený postup pri schvaľovaní AMT-130 a vyzerá to tak, že nebude potrebné vykonávať ďalšie skúšky, čo by znamenalo že bude možné požiadať o schválenie lieku. Rovnako ako v Amerike (FDA) tak aj v Európe (EMA) chce UniQure začať rokovania s EMA za účelom posúdenia a schválenia ich terapie. Originál …

AMT 130 – aktualizované Čítajte viac »