HD News

Mini mozgy 30.8.2024  Vedcom sa podarilo v laboratórnych podmienkach za pomoci kmeňových buniek vytvoriť mozgové štruktúry. Tento objav by mohol pomôcť pri nových terapiách založených na kmeňových bunkách ako aj pri testovaní liekov. Originál článku tu Starší článok o transplantácii Glia buniekPodľa štúdie na myšiach je možné transplantovať do poškodeného mozgu mladé glia bunky, ktoré nahradili …

Kmeňové Bunky – transplantácia Glia buniek Čítajte viac »

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 »

Aktualizácia 29.8.2024 Podľa predbežných výsledkov došlo k spomaleniu progresu ochorenia pri pacientoch s vysokou dávkou AMT-130 až o 80% Originál článku tu. Aktualizácia 24.6.2024 Americký úrad pre kontrolu liečív udelil AMT-130 status RMAT (čo je status regeneratívnej medicíny). Toto označenie by malo urýchliť schválenie terapie pre bežné použitie. Originál článku tu. Aktualizácia 15.5.2024 V nasledujúcich mesiacoch chce …

AMT 130 – aktualizované Čítajte viac »

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 .

This year’s Family Gathering will take place on Saturday 9 November at Apex City Quay Hotel, Dundee. This year, in recognition of our 35th anniversary, we’re also holding a celebratory dinner. This is your invitation to these events! We have lined up a superb programme of speakers and activities, and

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The post Family Gathering and 35th Anniversary Dinner appeared first on Scottish Huntington's Association.

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

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 »

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 »

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

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?

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 […]

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.

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.

La enfermedad de Huntington (EH) está causada por una alteración genética, es decir, una anomalía en uno de los genes que componen el ADN. Este tipo de alteración genética también […]

La entrada La Enfermedad de Huntington es hereditaria… ¿Qué significa esto? se publicó primero en .

Ayer, la empresa de biotecnología Prilenia ha anunciado que, según tenían previsto, han presentado la solicitud de autorización de comercialización (MAA, por sus siglas en inglés) ante la Agencia Europea […]

La entrada Novedades | Prilenia ha presentado ante la EMA la solicitud de autorización de comercialización para la Pridopidina.  se publicó primero en .

Welcome to Day 2 of the Hereditary Disease Foundation (HDF) conference! The morning was spent listening to an interview between a neurologist and their patient living with HD. All HDF meetings begin this way, to better connect scientists with the people who matter most, those living with HD.

Different flavors of HTT

Up first is Tony Reiner, who studies the structure of the brain and how it changes in HD. Interestingly, HD doesn’t affect the whole brain equally. There are certain parts that are more vulnerable - specifically, a region called the striatum, which is found almost exactly in the center of the brain.

Era noviembre de 2018 y yo estaba en Colombia cuando comenzó mi historia con la enfermedad de Huntington.La noche anterior me habían comunicado desde Italia que en aquella mañana mi […]

La entrada El Viaje de Gabriele: descubre su historia de aceptación y concienciación frente a la Enfermedad de Huntington se publicó primero en .