HD Focus

For people at risk of Huntington’s disease, having a baby who might inherit HD can make decisions around planning a family extremely difficult. This article explains the options available, and how modern reproductive science can make a difference right now to families touched by HD.

Content warning This article describes issues of fertility, tough choices, and medical procedures including termination of pregnancy.

Not all techniques described here are available everywhere, and in some countries, they can involve major expense. So, if you’re thinking about any of them, we recommend you contact a specialist genetic counsellor for individual advice. The earlier you do, the more options you’ll have.

Introduction

Many people with Huntington’s disease, or at risk of it, would like to know if there are ways to have children without passing the disease on to the next generation. The short answer is yes!

Kam smeruje liečba Huntingtonovej choroby   Vedci z Weizmannovho inštitútu objavili dve malé molekuly, ktoré môžu umyší preniknúť cez hematoencefalickú bariéru, čím spomalia a dokonca zvrátiaúčinky Huntingtonovej choroby, ktorá je nevyliečiteľná. Ľudský mozog je dobre stráženým riadiacim centrom. Jeho systém krvnýchciev je obklopený hustou bunkovou bariérou, ktorá bráni väčšine látok dostať sadovnútra alebo von. Táto opevnená bariéra …

Malé molekuly – Weizmannov inštitút Čítajte viac »

23 März Wo: Hotel Arte, Riggenbachstrasse 10, 4600 Olten;  Wann: 23.3.2025 ab 11:30 Uhr/12:00 Essen, Beginn der GV ca. 14:00 Uhr

In two recent studies, researchers looked at how different parts of the brain are affected by CAG expansions in Huntington's disease (HD) at the level of individual brain cells. The scientists looked at post-mortem brains from people with and without HD to track molecular changes in different brain regions called the cortex and striatum. These studies have provided new insights into what contributes to HD. Let’s get into it!

Specific brain areas are prone to damage in HD

For a long time now, we have known that some areas of the brain are affected more than others in people with HD. Specific types of brain cells in these vulnerable parts of the brain tend to die off more quickly than others, in a process known as degeneration.

However, the underlying reasons for why some cells are affected more than others are not very clear. Lots of researchers from around the world have been trying to figure this out, as it might shine a light on exactly how HD progresses and give us clues as to how we might treat it.

Dear Huntington’s Disease Community, We recently have had meetings with regulatory authorities in the European Union about next steps for our HD program. We are pleased to let you know that after positive and constructive feedback, we plan to submit a Marketing Authorization Application (MAA) for pridopidine for the treatment

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The post Application for marketing authority for Pridopidine to treat Huntington’s disease – community letter from Prilenia appeared first on Scottish Huntington's Association.

15 Juni SAVE THE DATE – Details folgen

Drug company Prilenia has announced today, Tuesday 12 March, that it is applying for market authorisation from the European Medicines Agency (EMA) for the drug Pridopidine for the treatment of Huntington’s disease.Marketing authorisation is the process of reviewing and assessing the evidence to support a medicinal product in relation to

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The post "We welcome news from Prilenia while staying mindful of the hurdles that lie ahead" appeared first on Scottish Huntington's Association.

7 Sept. SAVE THE DATE – Details folgen

Danssjukan är en roman om att leva med Huntingtons sjukdom i familjen skriven av Thelma Kimsjö.. Det är en berättelse om väntan på besked, men också om familjerelationer, kärlek och ett liv värt att leva trots sjukdom. Du kan köpa boken här: Danssjukan – Thelma Kimsjö – inbunden (9789189559486) | Adlibris Bokhandel Välkommen till bokträffar…

Inlägget Bokträffar om Danssjukan i vår publicerades först på RHS Riksförbundet Huntingtons Sjukdom.

HDBuzz is back for the last day of the CHDI HD Therapeutics Conference: Thursday February 29th in Palm Springs, California. This article summarizes our real-time updates of the conference in community-friendly language. From genes to medicines The morning session will focus on how human genetics is driving the development of therapeutics. “Genetic modifiers” are genes […]

Terapeutická konferencia v Palm Springs : Deň 1,  : Začalo to prednáškami o CAG opakovaniach a ich význame pri prepuknutí choroby. V ďalšej z prednášok predstavili výsledky znižovania Huntingtínu u dospelých myší a preukázali, že nie je ideálne veľmi znížiť hladinu Huntingtínu prípadne ho úplne odstrániť. Zameranie sa na len mutovaný proteín by mohlo mať …

Terapeutická konferencia 2024 Čítajte viac »

SKY-0515 je  I fáze testovania. Testovanie prebieha v Austrálii Jedná sa o perorálne podávanú malú molekulu, ktorej úloha je degradovanie produkcie proteínu v RNA fáze. Viac v článku tu.

HDBuzz is back for the last day of the CHDI HD Therapeutics Conference: Thursday February 29th in Palm Springs, California. This article summarizes our real-time updates of the conference in community-friendly language.

From genes to medicines

The morning session will focus on how human genetics is driving the development of therapeutics. “Genetic modifiers” are genes that influence when HD symptoms onset, and human data is extremely valuable to discover new drug targets.

Scientists can only find these modifiers when they have access to huge amounts of genetic data, so every single person from an HD family who contributed samples and signed those consent forms played an important role in all of these discoveries.

Vanessa Wheeler: expansion of CAGs and HD modifiers

The first speaker of the morning is Vanessa Wheeler, from Massachusetts General Hospital & Harvard Medical School. Vanessa’s team are experts on somatic instability (expansion of CAGs) and have been busy researching modifiers.