HD Focus

Utbildningsdagen riktar sig framför allt till omvårdnadspersonal och anhöriga, men alla är välkomna. Vi diskuterar omvårdnad – lär känna igen svåra komplexa symtom, etiska dilemman, kommunikation, medicinering och anhörigperspektiv. Vi eftersträvar en samsyn för att säkerställa omvårdnadsbehovet för vår målgrupp oavsett var man bor i landet och var man får sin vård. Skriv ut programmet…

Inlägget Anmäl dig nu till utbildningsdag ” Palliativ omvårdnad” – 27 september (dagen efter Nationellt mötet). publicerades först på RHS Riksförbundet Huntingtons Sjukdom.

RHS har nöjet att bjuda in dig som är ung vuxen till en helg i Karlstad den 18-20 oktober! Läs mer och anmäl dig nedan! Hoppas vi ses!    

Inlägget Inbjudan till helg för unga vuxna i Karlstad 18-20 oktober publicerades först på RHS Riksförbundet Huntingtons Sjukdom.

Deň 1 : Prvá bola prednáška o CRISPR technológii a jej možnom použití pri HCH. Druhá prednáška doktora Eda Wilda bola o štúdiách v úvode spomenul Tominersen od Roche. Nasledoval PTC-518 od PTC therepeutics – je to malá molekula, podávaná formou tablety a znižujúca HTT podľa dávky lieku.  Liek sa posúva do 3 fázy testovania. Ďalším …

HDF konferencia 2024 Čítajte viac »

Di seguito il nostro periodico con interessanti aggiornamenti della ricerca uniQure, di cui vi aveva parlato la nostra cara Marina Frontali nel convegno del 18 maggio 2019. Oltre, alla interessante traduzione della dott.ssa Petrucci sulla ricerca uniQure, vi troverete informazioni sul prossimo congresso EHDN che si terrà a Strasburgo prossimamente. Il convegno AICH-Roma si terrà […]

L'articolo PERIODICO MAGGIO – AGOSTO sembra essere il primo su corea di huntington -AICH ROMA ONLUS -.

In Pakistan, Huntington’s disease is often misunderstood and a burden that many families bear alone without any support. Our portraits of resilience series aims to showcase the grit and resilience of the Pakistani HD community facing an incurable disorder in a country where services for rare disease are nearly nonexistent. Our first post is an […]

Como vimos en nuestro artículo anterior, la Enfermedad de Huntington (EH) es una condición genética hereditaria que plantea serios desafíos para las personas que desean formar una familia.  Dado que […]

La entrada Planificación Familiar en la Enfermedad de Huntington: Opciones Reproductivas y Consideraciones Importantes (Parte 1) se publicó primero en .

Stem cells grown in 3D in a research lab can mimic some features of Huntington’s disease (HD). They also hold promise for transplantation studies to potentially add back cells that are lost in HD. But what would happen to those new cells? Would they get along with the cells still in the brain that have the HD gene? And what can this system teach us about ongoing clinical trials aimed at lowering the HD-causing message in only parts of the brain? Read on to find out!

The power of stem cells

Stem cells hold a certain mystique. They can either retain their “stemness”, remaining a stem cell, or to turn into something else altogether. Contained within each one is the ability to become almost any cell type in the human body. Scientists can coax them into becoming a heart cell, or a muscle cell, or even a brain cell, providing scientists with a powerful research tool that can be used to answer questions about people’s brains in health and disease.

This year’s Family Gathering will take place on Saturday 9 November at Apex City Quay Hotel, Dundee. This year, in […]

No dia 15 de agosto, a ABH, em parceria com a BioDecision Analytics, apresentou o webinar Inteligência de Dados e Doença de Huntington: novas perspectivas terapêuticas. Nossos agradecimentos à Dra. Luciana Munhoz pela mediação do evento e ao Dr. Rodrigo Araldi pela exposição dos resultados da pesquisa para toda a comunidade de DH. ➡️ O […]

O post Em estudo inédito, pesquisadores brasileiros descobrem novos alvos terapêuticos para a doença de Huntington apareceu primeiro em ABH - Associação Brasil Huntington.

Česká SPHCH sa na nás obrátila s ponukou účasti na sledovacej štúdii pána docenta Klempířa. (špičkového odborníka na HCH.) Text e-mailu : Prosíme o pomoc se sledovací studií, která monitoruje kvalitu života pacientů s HCH a pečujících osob. Jedná se o několik dotazníků, které lze vyplnit elektronicky (v PDF) a zaslat zpět e-mailem, případně vytisknout, …

Sledovacia štúdia Čítajte viac »

A ABH convida você para a Roda de Conversa #HuntingtonEmPauta! Tema do encontro: Lidando com os sentimentos de culpa e frustração como cuidador da DH 🗓️ Sábado, 17 de agosto ⏰ 14:30 h às 16:00 h 💻 Evento on-line via Google Meet ✋ Convite exclusivo para pacientes, familiares e cuidadores da comunidade de Doença de Huntington. Anote […]

O post Roda de Conversa ABH – Agosto/24 apareceu primeiro em ABH - Associação Brasil Huntington.

With the holidays approaching, welcome news arrived on December 19th in a press release from uniQure. The latest data from the HD-GeneTRX studies of AMT-130, an experimental huntingtin-lowering gene therapy, shows that the drug still appears to be safe over the course of a few years. Since the number of participants is very small, we cannot yet draw conclusions about the effectiveness of AMT-130 to treat HD, but there are early, promising signs that AMT-130 holds potential to stabilize some symptoms. This means that the trial can safely continue and will hopefully expand in future.

A refresher on the HD-GeneTRX trials

First, let’s talk about the history of the first gene therapy for HD. Developed by uniQure, AMT-130 involves a harmless virus packaged with genetic material that is designed to lower the amount of huntingtin protein in the brain. We’ve covered a bit more on the science of this in a 2019 article. It was first thoroughly tested in many different animal models of HD before the current human safety studies, known as HD-GeneTRX-1 and HD-GeneTRX-2, began in 2020.

Ahojte.  Chcem sa s vami všetkými podeliť o náš príbeh . Zobrali sme sa pred 20 rokmi s vedomím že moja manželka je v ohrození a môže zdediť tuto chorobu po otcovi. Keď sa prejavy stupňovali tak Majka išla na test a bol pozitívny. Nasledovalo hľadanie lekárov, nastavenie liekov. Toto obdobie bolo pre nás veľmi …

Náš príbeh Čítajte viac »

New data from uniQure, who developed a one-and-done gene therapy for Huntington’s disease (HD) called AMT-130, indicates that the drug is relatively safe and might be able to slow down signs and symptoms of HD. AMT-130 is currently under investigation in Phase I/II clinical trials in Europe and the US which are mainly focused on drug safety. These hot new data are very encouraging, so let’s dive into what it all means!

What is AMT-130?

Developed by uniQure, AMT-130 is the first gene therapy for HD. Like many of the other therapies being tested in the clinic right now, it aims to reduce the levels of the HD protein, huntingtin, in the brain. What makes it a bit different, however, is that AMT-130 is a one-and-done gene therapy; you are only given one dose of the drug ever in the course of your life.

AMT-130 is made up of a harmless virus packaged with genetic material that contains the instructions to reduce the amount of huntingtin in each cell that the virus infects in the brain. The drug is given to people with HD by a very specialised type of brain surgery.

With the holidays approaching, welcome news arrived on December 19th in a press release from uniQure. The latest data from the HD-GeneTRX studies of AMT-130, an experimental huntingtin-lowering gene therapy, shows that the drug still appears to be safe over the course of a few years. Since the number of participants is very small, we […]

A Associação Brasil Huntington (ABH), em parceria com a BioDecision Analytics, convida você para um webinar a respeito de um estudo, realizado por brasileiros, que utilizou inteligência artificial para revolucionar a pesquisa e o futuro de novos tratamentos para a doença de Huntington. O estudo foi apoiado pela ABH, pela International Huntington Association (IHA), pela Federação […]

O post Webinar: Inteligência de Dados e Doença de Huntington – Novas Perspectivas Terapêuticas apareceu primeiro em ABH - Associação Brasil Huntington.

We’re back for the last day of the Hereditary Disease Foundation conference!

Serendipitous finding?

Up first is HDBuzz co-founder and editor emeritus, Jeff Carroll. Jeff’s lab studies HD in mice and cells in a dish and investigates different potential treatments.

The first story Jeff is telling us about is developing tools that lower HTT. He’s using something called an ASO, or antisense oligonucleotide. You may have heard of these if you followed Roche’s trials since tominersen is a HTT-lowering ASO.

Jeff’s team saw that when they lowered HTT with ASOs, the degree of somatic instability seemed to go down. But it turns out this is not because of the reduced amount of HTT protein, but a strange quirk of how ASOs work to target genetic message molecules. This doesn’t mean that HTT-lowering ASOs will reduce somatic instability in the key cells HD researchers are targeting. The doses would have to be crazy high to achieve this and then there might be unwanted off target effects. Still, an interesting observation - science is weird!

We’re back for Day 3 of the Hereditary Disease Foundation (HDF) conference! First up is a session on RNA dynamics - what’s that?! Read on to find out!

Different HTT forms have different effects

Up first is Gill Bates, who will tell us about her work in understanding how somatic expansion causes disease and investigating ideas targeting different forms of HTT, to help develop therapies for HD.

The HTT gene is very long! And sometimes only parts of it get turned into protein, particularly the beginning part. This happens more frequently in HD. It turns out that first little bit - called HTT1a - is quite toxic to cells. Gill’s team research HTT1a in mouse models of HD and they have studied a series of mice with different CAG repeat lengths, spanning mice with a low CAG repeat number to HD mice with very large CAG numbers. Then they measure which forms of the HTT protein are made in these mice.