HD Focus

Spoločnosť Desing Therapeutics sa snaží vyvinúť liek prostredníctvom testovania malých molekúl. Zatiaľ sú v predklinickej fáze testovania a hľadajú vhodnú malú molekulu. Niektoré malé molekuly boli schopné pri podaní do tela (ako tableta, alebo injekčne) znížiť v mozgu produkciu mutovaného HTT proteínu až o 50%. Dúfajme, že čoskoro vyberú vhodnú molekulu a budú pokračovať v …

Malé molekuly – Desing Therapeutics Čítajte viac »

Long repetitive sequences of C-A-G letters in the DNA code are associated with at least 12 genetic diseases, including Huntington’s disease (HD). A group of scientists in Massachusetts, USA, have recently developed a new genetic strategy to study how CAG repeats can lead to harmful proteins being made in cells, causing cells to become unhealthy. Their findings showed that expanded CAG repeats can interfere with a process called ‘splicing’, which chops up and organises genetic message molecules before they are turned into proteins.

CAG repetition

Our DNA is a genetic code that holds instructions for making thousands of different proteins, the molecular machines that run our cells. This code is made of four building blocks or ‘bases’: C, A, G, and T. DNA is arranged like a twisted ladder with two DNA strands bound together in a helix, each made of a string of bases. The bases on one DNA strand pair with bases on the opposite DNA strand to form the ‘rungs’ of the ladder.

Long repetitive sequences of C-A-G letters in the DNA code are associated with at least 12 genetic diseases, including Huntington’s disease (HD). A group of scientists in Massachusetts, USA, have recently developed a new genetic strategy to study how CAG repeats can lead to harmful proteins being made in cells, causing cells to become unhealthy. […]

7 апреля 2024 г. в г. Красноярске состоится Школа здоровья для людей с болезнью Гентингтона и их родственников. Помимо новой информации о заболевании, вы сможете получить бесплатные индивидуальные консультации от… More »

The post Школа здоровья в Красноярске appeared first on Центр помощи пациентам с орфанными заболеваниями.

Il 23 marzo 2023 ha segnato il 30 º anniversario della scoperta del gene HD.  Un anno fa quel giorno, la comunità  globale HD ha voluto celebrare  questa ricorrenza dimostrando la  sua gratitudine alle molte famiglie di tutto il mondo, la maggiorparte di esse provenienti dalla zona del lago di Maracaibo in Venezuela, per il  […]

L'articolo #huntingtongratidudeday sembra essere il primo su corea di huntington -AICH ROMA ONLUS -.

Anhörigdag 21 maj Funktionsrätt Västra Götaland, Nka, RHS m.fl. bjuder nu in till en dag som ska inspirera och ge kunskap och information om anhöriga till personer med funktionsnedsättningar. Den 21 maj anordnar en rad samverkansparter i Västra Götaland en dag som handlar om anhöriga till personer med funktionsnedsättningar eller sjukdomar. Programmet innehåller föreläsningar som ger…

Inlägget Anhörigdag 21 maj Dalheimers hus i Göteborg publicerades först på RHS Riksförbundet Huntingtons Sjukdom.

Пирогами, блинами и другими угощениями мы встретили подопечных нашего центра. Праздник по традиции прошел в библиотеке-читальне им. А.С. Пушкина. Мероприятие приурочили ко Дню Рождения организации «Редкие Люди». В этом году… More »

The post Проводили масленицу вместе appeared first on Центр помощи пациентам с орфанными заболеваниями.

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

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.

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.

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.

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