HD Focus

HDBuzz is back for Day 2 of the CHDI HD Therapeutics Conference: Wednesday February 28th in Palm Springs, California. This article summarizes our real-time updates of the conference in community-friendly language. It’s a brain disease This morning’s session is titled “It’s a brain disease” and will feature talks about BRAINSSSS! HD scientists are a bit […]

Risale al 2008 l’istituzione di questa ricorrenza proprio nella giornata del 29 febbraio che cede al 28 negli anni non bisestili. La scelta di questa data simbolica risponde alla volontà di sottolineare come raro non sia necessariamente sinonimo: di unico, tanto da ricapitare ciclicamente; di unità, data la significativa numerosità di malattie che si riconoscono […]

L'articolo Huntington Onlus a “Malattie rare e stili di vita” proviene da huntington-onlus.

HDBuzz is back for Day 2 of the CHDI HD Therapeutics Conference: Wednesday February 28th in Palm Springs, California. This article summarizes our real-time updates of the conference in community-friendly language.

It’s a brain disease

This morning’s session is titled “It’s a brain disease” and will feature talks about BRAINSSSS! HD scientists are a bit like zombies - they love brains! The session chairs posed big questions to the audience, such as: why does HD affect the brain? Why does it affect certain cells in the brain? And why does HD affect people at the time in their life that it does. This season’s talks tried to address these questions from a variety of different angles.

Christopher Walsh: DNA “signatures” of brain cells in aging and disease

The HDBuzz team recently convened in Palm Springs, California, along with hundreds of other scientists from all over the globe, for the 19th Annual HD Therapeutics Conference, hosted by the HD research foundation CHDI. From Tuesday February 27th through Thursday February 29th, we live-tweeted dozens of scientific talks by world experts in Huntington’s disease research, from bench scientists to clinicians. We’ve compiled our tweets into a summary of the entire conference, beginning with Day 1.

Huntingtin Homework: Teaching an Old Dogma New Tricks

The first session of the conference focused on huntingtin, the gene that expands to cause HD. The meeting kicked off with Gill Bates, who reviewed what we know about the genetics of HD, which is that the length of CAG repeats in the huntingtin gene dictates whether people will develop HD. More recently, lengthening of the CAG repeat in some brain cells, known as somatic expansion, has been implicated in driving the disease.

Dňa 28.2.2024 sme sa zúčastnili návštevy pani u pani prezidentky ktorú realizovala Slovenská aliancia zriedkavých chorôb. Pani prezidentke som dal knižku Slnko vo Vetre, ktoré opisujem život s Huntingotnovou chorobou. Bola to veľká česť môcť sa zúčastniť tohoto stretnutia s týmito skvelými ľuďmi. Na ďalší deň bola realizovaná diskusná relácia ktorej záznam prikladám : tu.

The HDBuzz team recently convened in Palm Springs, California, along with hundreds of other scientists from all over the globe, for the 19th Annual HD Therapeutics Conference, hosted by the HD research foundation CHDI. From Tuesday February 27th through Thursday February 29th, we live-tweeted dozens of scientific talks by world experts in Huntington’s disease research, […]

16 марта в Библиотеке- читальне им. А .С. Пушкина пройдет традиционная ежегодная встреча семей с болезнью Гентингтона.В программе мероприятия выступления и консультации лучших медицинских специалистов в области лечения болезни Гентингтона… More »

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Vad är Sällsynta dagen? Den sista februari uppmärksammas sällsynta hälsotillstånd runt om i hela världen, detta efter ett svenskt initiativ som startade 2008. Den 29 februari är den mest sällsynta av dagar eftersom den bara infaller vart fjärde år. Det finns idag mer än 8000 olika sällsynta diagnoser, dvs. diagnoser som berör högst 5 personer…

Inlägget Sällsynta dagen 29 februari 2024 publicerades först på RHS Riksförbundet Huntingtons Sjukdom.

Pri výskume metabolizmu mozgu ľudí v JHD prišli výskumníci na zistenie že by mohla byť prospešná Ketogénna diéta s vysokým obsahom tukov a nízkym obsahom sacharidov sa bežne používa na liečbu detí s nedostatkom GLUT-1 a určitými typmi epilepsie. Je to jeden z mála možných prínosov ktoré sa konečne objavujú pri “liečbe” JHD.

Choroba hranice nepozná   Už 17 rokov si ľudia na celom svete v posledný februárový deň pripomínajú Medzinárodný deň zriedkavých chorôb. Na svete žije viac ako 300 miliónov ľudí, ktorí dennodenne bojujú s jednou zo 6 000 – 8000 zriedkavých chorôb. Len na Slovensku sa ich odhaduje 300 000. Zriedkavé choroby sú závažné, život ohrozujúce a chronické choroby, ktoré …

Deň zriedkavých chorôb 29.2.2024 Čítajte viac »

Este ano temos a oportunidade de o celebrar no dia 29 de fevereiro, o dia mais raro do ano. Obrigado à Eurordis por produzir este vídeo emocionante onde convidaram pessoas de todo omundo a partilharem as suas histórias. -Video na Eurordis = https://www.youtube.com/watch?v=zEQ828Lkxac-RareDiseaseDay.ORG=https://www.rarediseaseday.org-RareDiseaseDay = DH Friends = https://www.rarediseaseday.org/?s=huntington&post_type=friends