#huntingtonsdisease — Public Fediverse posts
Live and recent posts from across the Fediverse tagged #huntingtonsdisease, aggregated by home.social.
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New review article “Pathogenesis of polyglutamine diseases: Piecing together a complex molecular puzzle” by Esmeralda Villavicencio Gonzalez and Huda Zoghbi in the Journal of Experimental Medicine: doi.org/10.1084/jem.... #polyQ #huntingtonsdisease #ataxia
Pathogenesis of polyglutamine ... -
FuRST 2.0 tracks subtle HD changes; FOCUS-HD takes ~20 mins.
More here ⤵️
https://www.karmactive.com/huntingtons-furst-2-0-amt-130-validation-update-2025/Follow @karmactive
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✨🧠 "The Hunt for Huntington's" is a gripping tale of familial phone calls and birthday surprises! 🎉🚀 In a twist of fate, one daughter's epic battle against destiny allegedly sparked a "scientific revolution"—or so the legend goes! Because who knew flying home for Dad's birthday could lead to Nobel-worthy breakthroughs? 🏆✈️
https://nehalslearnings.substack.com/p/the-hunt-for-huntingtons #HuntingtonsDisease #FamilyStories #ScientificRevolution #NobelPrize #BirthdaySurprises #HackerNews #ngated -
UTHealth Houston has several patients included in a study showing promising results in delaying the debilitating symptoms of Huntington's disease.
#HealthScience #Local #News #HuntingtonSDisease #HuntingtonSDiseaseSocietyOfAmerica #UTHealthHouston
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Huntington's disease successfully treated for first time | BBC News
https://youtu.be/bhExSMZt1zs#Science #Medicine #Health #Neuroscience #HuntingtonsDisease #GeneTherapy
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Some good news for a change. I’ll hold off on celebrating until the studies are further peer-reviewed and reproduced, but for anyone with family or friends affected by this terrible hereditary disease, this is brilliant news.
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Huntington's disease treated for first time
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It means the decline you would normally expect in one year would take four years after treatment, [..].The first symptoms of Huntington's disease tend to appear in your 30s or 40s and is normally fatal within two decades.
"""Wow, one might then very well merely die "with" it, instead of "from" it.
https://www.bbc.com/news/articles/cevz13xkxpro
via @kottke
#medicine #healthcare #HuntingtonsDisease #Huntingtons #kottke
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Some actual #GoodNews… #HuntingtonsDisease successfully treated for the first time! https://www.bbc.co.uk/news/articles/cevz13xkxpro
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This is the biggest medical breakthrough in ages, and will dramatically impact a small portion of the population with inherited #HuntingtonsDisease - a truly horrible terminal condition that attacks the brain and CNS. A huge deal for families affected. Really GOOD news, this is… #Disease #PublicHealth #Science #Research
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Huntington's disease, a fatal genetic condition, has been successfully treated for the first time. @BBCNews reports on a type of gene therapy developed at University College London that slows the disease by 75% in patients. It offers the first signs of hope for sufferers of this brutal and terrible condition, which kills brain cells, leading to symptoms that resemble dementia, Parkinson's and motor neurone disease, and is usually fatal within two decades of diagnosis.
#Huntingtons #HuntingtonsDisease #Medicine #Health #Science #Genetics #GeneTherapy #GoodNews
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"One of the cruellest and most devastating diseases – Huntington's – has been successfully treated for the first time, say doctors.
The disease runs through families, relentlessly kills brain cells and resembles a combination of dementia, Parkinson's and motor neurone disease.
An emotional research team became tearful as they described how data shows the disease was slowed by 75% in patients.
It means the decline you would normally expect in one year would take four years after treatment, giving patients decades of good quality life', Prof Sarah Tabrizi told BBC News.
The new treatment is a type of gene therapy given during 12 to 18 hours of delicate brain surgery."
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What #science can do. This is a spectacular accomplishment. If only our #eugenicists-in-chief believed in the value of #research instead of #fascism and its relentless pursuit of suffering.
"There was every chance that we would never see a result like this, so to be living in a world where we know this is not only possible, but the actual magnitude of the effect is breathtaking, it's very difficult to fully encapsulate the emotion."
https://www.bbc.com/news/articles/cevz13xkxpro?at_medium=RSS&at_campaign=rss
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Huntington’s disease treated successfully for first time in gene therapy trial
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🚨 BREAKING: Scientists finally find a way to treat Huntington's disease, just in time for the BBC to bury it under 37 tabs of geopolitical drama and penguin documentaries. 🌍🐧✨ Meanwhile, the rest of us are left wondering if they can treat our addiction to scrolling past #news about yet another war. 📰🔄
https://www.bbc.com/news/articles/cevz13xkxpro #HuntingtonsDisease #Breakthrough #Science #MediaCriticism #GeopoliticalDrama #HackerNews #ngated -
Huntington's disease treated for first time
https://www.bbc.com/news/articles/cevz13xkxpro
#HackerNews #HuntingtonsDisease #Treatment #Breakthrough #HealthNews #MedicalResearch
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@Thorn @actuallyautistic As someone who was for a decade a caregiver for a wife with #HuntingtonsDisease, I have learned to expect that those baby steps won't lead to my feeling seen any time in this life. Anger and grief.
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Huntington’s Disease – eine seltene, aber verheerende genetische Erkrankung. Auch einige prominente Persönlichkeiten waren betroffen oder haben das Thema öffentlich gemacht. 🧠💔 Ein kurzer Überblick: #HuntingtonsDisease #Neuroscience #Awareness
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Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s disease.
#HuntingtonsDisease #CAGrepeat #SomaticExpansion #SingleCell
https://www.cell.com/cell/fulltext/S0092-8674(24)01379-5 -
Secondary nucleation is increasing recognized as a dominant process in protein aggregation, and in particular also for pathogenic (disease causing) proteins. Still, many questions remain about how this process works, and what implications it has for pathogenic mechanisms. Here we show the unique power of HS-AFM to actually visualize this process directly. Check it out!
#amyloid #AFM #huntingtonsdisease (2/2)
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Looking forward to the European #huntingtonsdisease network ( #EHDN) meeting next week, in beautiful Strasbourg (https://ehdn.org/ehdn2024/ ). It looks like a great line-up of speakers and topics, and offers a chance to catch up with fellow HD researchers (and collaborators). Are you there too? #polyQ
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Our latest (review) article is now available online: https://doi.org/10.1042/BST20230731 in the journal Biochemical Transactions. In this invited article “Solid-state nuclear magnetic resonance in the structural study of polyglutamine aggregation”, I have reviewed the contributions that solid-state #NMR #SSNMR has made to our understanding of the mutant protein aggregates in #huntingtonsdisease and related #polyQ disorders. (1/2)
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Yay! It is now online: our latest paper on the use #NMR spectroscopy to look at #amyloid formation by #polyQ peptides outfitted with a backbone modification, which allows photochemical control over beta-hairpin formation. Together with the groups of Szymanski and Feringa in #Groningen. A great new tool for studies of #amyloid formation mechanisms.
https://pubs.acs.org/doi/10.1021/jacs.3c11155
#photochemistry #NMR #huntingtonsdisease #amyloid -
Sign up now! HDF Foundation webinar about the protein that is mutated in #huntingtonsdisease. Presented by J. Frydman and N. Barbosa from Stanford University - happening tomorrow!! https://www.hdfoundation.org/webinars #polyQ #amyloid #biophysics
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Interesting webinar about #HuntingtonsDisease is coming on Sept 28th 2023, via the #HDF foundation: https://www.hdfoundation.org/webinars
An online presentation by Judith Frydman and Natalia Barbosa (#Stanford) talking about “How expanding our knowledge of the Huntington's protein can unlock new therapies”. (A statement I fully agree with - to address a protein misfolding disease like HD, we need to understand what this #misfolding process really is!) #polyQ #huntingtondisease #biophysics -
The latest results of our #huntingtonsdisease research program is now on #bioRxiv https://www.biorxiv.org/content/10.1101/2023.07.21.549993v1. Title: Integrative determination of the atomic structure of mutant huntingtin exon 1 fibrils from Huntington's disease.
It describes the structure of #amyloid fibrils formed by the mutant protein behind Huntington’s disease. We teamed up with the group of Markus Miettinen at the University of Bergen (prev. MPI colloids at Potsdam @maxplanckgesellschaft. #structuralbiology #biophysics
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Well, just got back from the FASEB protein aggregation conference #PACSRC in Ireland. As usual, it was a great event with a never-ending stream of cool science. Quite a few #amyloid structures discusses, based on #ssNMR and #cryoEM . I briefly talked about our own integrative structural biology work on the fibrils made by mutant huntingtin fragments #huntingtonsdisease , as well as our work with aggregation inhibitors (and how they reveal features of the aggregation mechanism) #polyQ
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How Huntington's Disease Affects Different Neurons:
A new study identifies cells that are the most vulnerable within a brain structure involved in mood and movementhttps://www.nature.com/articles/s41467-022-35752-x
#neurology #neurobiomechanics #Neuroscience2023 #cellularBiology #cellbiology #huntingtonsdisease
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Some more focus on Huntington's disease and other CAG repeat expansion disorders ( #polyQ) at the GRC on this topic: in Vermont (USA) from June 11 - June 16th. https://www.grc.org/cag-triplet-repeat-disorders-conference/2023/ #HuntingtonsDisease
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Our department at the Zernike Institute for Advanced Materials of the University of #Groningen is highlighting Raffaella Parlato from my #SSNMR group in this year's advent calendar: Raffaella's research focuses on #HuntingtonsDisease, a rare and neurodegenerative disease caused by #polyQ #protein aggregation into #amyloid fibrils . Read more: https://www.rug.nl/research/zernike/news/newsitems/20221220-day20-parlato
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Challenge #160: What triggers the incurable #HuntingtonsDisease?
Scientists at the #mdcBerlin use the #FruitFly to investigate how #Huntington's disease develops in the #brain and how it could be stopped.
More: https://www.helmholtz.de/en/research/helmholtz-challenges/challenge/what-triggers-the-incurable-huntingtons-disease/ #InspiredByChallenges @helmholtz
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If you are in the #USA, please use this link, http://www.votervoice.net/Shares/BAAAAAQEBCq2UA8mZJb7FAA , to notify your elected representatives to sponsor the #HD Parity Act so remove the 2 year medicare waiting period for people afflicted with Huntinton's Disease. #HuntingtonsDisease #HDSA
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I wanted to take another stab at an #introduction.
"We are all different people, all through our lives and that's okay. That's good. You've got to keep moving—just so long as you remember all of the people that you used to be."
I have been a:
#manager for a number of years at a couple of business: #DevOps at Heroku and owner of #SRE for Trust at a little business called LinkedIn.
#PsychologicalSafety hipster, grappling with the concept before the phrase entered the zeitgeist
#CraftPerson, striving always to produce more maintainable and readable #software
#idealist inspired early in life by #startrek, forever hoping to move the world closer to that post-scarcity utopia whose margin fades forever and forever when I move.
#ThoughtLeader, self-conscious for wanting so much to make a difference and chock full of #ImpostorSyndrome, creating and running a yearly 3-night #OpenSpaceTechnology summer camp for Ruby developers for about 10 years
shin shin toitsu #aikido practitioner, how I first learned to #meditate 33 years ago.
#teacher of #meditation, #EmotionalIntelligence, and #leadership skills, decades later.
#CatParent to 4... er.... now 5 cats. This is getting out of hand.
#husband and #caregiver to a wife with #HuntingtonsDisease for 10 years until her passing.
#husband, again, 4 years after my first wife's passing—later finding true belonging and peace for the first time in my adult life.
#human who uncomfortably yet eagerly accepts the lessons the world present to him.
"To strive, to seek, to find, and not to yield."
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Stable human striatal #organoids derived from human pluripotent #StemCells mimic fetal striatal development & compartments, providing a novel tool to study striatal development and #striatum-related abnormalities like #HuntingtonsDisease #PLOSBiology https://plos.io/3AsUYnH
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Stable human striatal #organoids derived from human pluripotent #StemCells mimic fetal striatal development & compartments, providing a novel tool to study striatal development and #striatum-related abnormalities like #HuntingtonsDisease #PLOSBiology https://plos.io/3AsUYnH
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Stable human striatal #organoids derived from human pluripotent #StemCells mimic fetal striatal development & compartments, providing a novel tool to study striatal development and #striatum-related abnormalities like #HuntingtonsDisease #PLOSBiology https://plos.io/3AsUYnH