HD Focus

A new paper led by researchers at the Massachusetts General Hospital and Harvard Medical School used CRISPR to work out which genes can influence how the genetic C-A-G repeat that causes Huntington’s disease (HD) can change over time. This exciting study helps us to better understand how HD works and uncovers some potential targets for therapies that could slow or halt the disease.

Genetic Stumbles Can Increase C-A-G Repeats

HD is a genetic brain disorder and everyone who has HD has an expansion of the C-A-G DNA letters in their HD gene, also called huntingtin or HTT. Over time, these C-A-G repeats can become even longer in some types of brain cells. This process is called somatic instability or more specifically somatic expansion. But somatic expansion doesn’t occur in all cells. This phenomenon appears to occur more so in medium spiny neurons, the type of cells that are most affected in HD.

A new paper led by researchers at the Massachusetts General Hospital and Harvard Medical School used CRISPR to work out which genes can influence how the genetic C-A-G repeat that causes Huntington’s disease (HD) can change over time. This exciting study helps us to better understand how HD works and uncovers some potential targets for […]

Reflections for the Final Days of Life: As you think about this important time, here are some gentle questions that might help you...

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SOM Biotech presents the Phase 2b study results with SOM3355 demonstrating a unique profile with robust improvements of chorea in Huntington’s Disease Patients and a safe profile with no somnolence, […]

Atlanta Therepeutics a och látka ATL-101 na báze RNAi. Získala finančné prostriedky na spustenie klinických skúšok. Liek pomáha redukovať produkciu génov pomocou RNAi – teda rovnakým spôsobom ako sa to aj reálne deje v našich telách. Látka sa podáva lumbálnou punkciou a v predklinických testoch dokázala zníženie HTT proteínu až 6 mesiacov po podaní. Originál článku …

Atlanta Therepeutics – ATL-101 Čítajte viac »

Er is veel geld nodig om onderzoek naar de ziekte van Huntington te financieren. Zo krijgen we hopelijk de ziekte snel de wereld uit. Het geld daarvoor komt af en toe uit een bijzondere hoek; particulieren of kinderen met het hart op de juiste plaats zetten zich ook in om Huntington te bestrijden. Basisschool CB De Rank uit Sprang-Capelle haalde onlangs maar liefst bijna 3.000 euro op!

De Vereniging van Huntington kon onlangs 2695 euro bijgeschreven zien worden op haar rekening. Met dat bedrag heeft CB De Rank uit Sprang-Capelle in de Kerstweek de kas van de Vereniging weten te spekken. Veel dank daarvoor!

Leerkracht Janneke Kruijff vertelt kort over de speciale collecte. “De school heeft de mooie traditie om tijdens de Kerstviering een collecte te houden voor een doel wat de school aanspreekt. Begin vorig jaar overleed mijn oud-collega Joletta op 47-jarige leeftijd. Zij had Huntington. Daarom wilden we als school de collecte eind december doneren aan de Vereniging.”

2 февраля 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 2 февраля 2025 г. appeared first on Центр помощи пациентам с орфанными заболеваниями.

When thinking about Huntington’s disease (HD) research participation, many of us picture white-coated physicians, forms and waiting rooms, tests and needles. In reality, that experience represents one of the many ways that scientists gather information about how best to care for people with HD. Impactful studies can take many forms, from cautiously investigating the safety […]

Handlingar inför årsmötet hittar ni under fliken: Om RHS och föreningsdokument eller genom att klicka här! VÄLKOMMEN!

Inlägget RHS årsmöte 19 februari kl 18.30 publicerades först på RHS Riksförbundet Huntingtons Sjukdom.

For Immediate Release Amy Gray Appointed as New President & CEO of HDSA (Huntington’s Disease Society of America) New York,...

The post Amy Gray Appointed as New President & CEO of HDSA (Huntington’s Disease Society of America) first appeared on Huntington's Disease Society of America.

What do you envision the last phase of your life to be like? (We will explore this in more detail shortly.) How would you like to handle...

Článok má formu rozhovoru a preto vyberám len základné fakty ktoré spomenuli. Prvá bola zmienka o AMT-130, prvej génovej terapii testovanej na pacientoch s HCH. Výsledky po dvoch rokov hovoria o spomalení progresu ochorenia. Ďalšie výsledky by mali byť dostupné v Júni.  Ďalšou firmou ktorú spomenuli je PTC Therapeutic s liekom Votoplam. Liek sa podáva ako …

Profesor Ed Wild a jeho očakávania na rok 2025 Čítajte viac »

Vi har summerat året som gått med allt som vi som riksförbund arrangerat under 2024.  

Inlägget Året som gått – titta på filmen! publicerades först på RHS Riksförbundet Huntingtons Sjukdom.

Iniciativa visa coletar dados para apoiar políticas públicas focadas em melhorar a qualidade de vida aos pacientes, seus cuidadores e familiares A Doença de Huntington (DH) é uma condição genética neurodegenerativa rara ao redor do mundo, mas com alta prevalência em algumas partes do Brasil com cidades em que a incidência chega a ser 80 […]

O post Pesquisa sobre Doença de Huntington é lançada no país apareceu primeiro em ABH - Associação Brasil Huntington.

Huntington Disease Society of India (HDSI) is a non-profit organization working towards the welfare of Huntington Disease affected families and bringing awareness about HD in society.

The International Huntington Association, in collaboration with the European Huntington Association, is organizing a campaign for Rare Disease Day 2025, on the 28th February. The slogan for this year’s RDD […]