Top Tweets for #ush2a
Already created the clinical chart for it…
Validates the potential curative gene mutation agnostic treatment capabilities.
Question is, how many other gene mutations have been treated under #FDAEAP #ExpandedAccess
#OCU400 #USH2A #RetinitisPigmentosa #GeneAgnostic
Really……..kinda wish it was……..
The only takeaway is that this patient suffers from #USH2A gene mutation 🧬
Under #FDA #ExpandedAccessProgram this is/will validate the scientific clinical gene-agnostic hypothesis for treating #RetinitisPigmentosa
#OCU400 $OCGN
Really……..kinda wish it was……..
The only takeaway is that this patient suffers from #USH2A gene mutation 🧬
Under #FDA #ExpandedAccessProgram this is/will validate the scientific clinical gene-agnostic hypothesis for treating #RetinitisPigmentosa
#OCU400 $OCGN
Iconic day for #RetinitisPigmentosa patients with USH2A. RNA therapy is back with the LUNA study. We @DukeReadingCenter are thrilled to be part of this milestone in the search for #RP cures. #GeneTherapy #USH2A @dukeeyecenter @ARVOinfo @ModernRetina @RetinaToday @eyetubenet
In collaboration with @MariyaMoosajee, we used BETR method to study ellipsoid zone width in #USH2A. We found EZ width declines exponentially, and the log-transformed rate required 48% fewer patients for a 1-year trial (38 vs 73). @bmj_latest #RP #MedTwitter
Thanks to our very clever statistical colleagues we have been able to #BETR understand disease progression of the ellipsoid zone in patients with #USH2A #RP #UsherSyndrome
👉🏼 https://t.co/H4g0VBQGZz…
@BMJ_Ophth @CUREUsher
Thanks to our very clever statistical colleagues we have been able to #BETR understand disease progression of the ellipsoid zone in patients with #USH2A #RP #UsherSyndrome
👉🏼 https://t.co/H4g0VBQGZz…
@BMJ_Ophth @CUREUsher
The RUSH2A NH Study session @ARVOinfo is an inspirational collaboration and represents a huge body of work. Very exciting times ahead....
#ARVO2024 #USH2A #UsherSyndrome
Very interesting watching how @bbceastenders #UsherSyndrome story is being played out through a 12yr old girl, @MollyWattTalks was diagnosed at 12yrs and has #Ush2a - takes me right back to diagnosis, the emotion, the sadness, followed by a determination to do right by my girl 💞
Big day today for @Lyes_Toualbi who passed his #PhD viva and is now “Dr Toualbi” 👏🏼 Bravo!
He has worked incredibly hard to develop a non-viral #GeneTherapy for #USH2A & #choroideremia @UCLeye
#Congratulations, you have hugely advanced our field @CUREUsher @curechm Well done!
Today ProQR has announced the transaction for Thea to acquire Sepofarsen and Ultevursen Ophthalmic Assets has been completed. Press release here: https://t.co/Qrj1I3Ivq3
$PRQR #RNA #biotech #IRDcommunity #LCA10 #USH2A
🧐#OpenAccess A novel #USH2A #gene mutation in a family with retinitis #pigmentosa: A case report
👥By Yalong Dang et al.
🔗Full text: https://t.co/lTdItwQlYk
#Retinitispigmentosa #Gene #Protein #Disease
We are very excited to share our latest article published in @HGGAdvances !
We report for the first time invaluable data on differential disease phenotypes associated with #USH2A variants in fibroblasts, iPSCs and mature human #retinal #organoids
👉 https://t.co/dqnz7as70n
Superb talks by Sam Malka on #GeneticCounselling issues relating to whole genome sequencing in @NHSEngland, Dr Daniel Jackson on natural history of #RP1 dominant RP & Dr Serene Lin reporting the 2 most common genes found in ~4000 patients are #ABCA4 & #USH2A @Moorfields 👏🏼
#Researchers at Radboudumc sought to study the significance of sleep problems and fatigue experienced by #UsherSyndrome type 2a (#USH2a) patients. @ushersyndroom https://t.co/Jce9Cp0LfE
A new Doctor in town! 👩🎓Congratulations to Janine Reurink from @SusanneRoosing @hannie_kremer Frans Cremer & Erwin van Wijk groups for her excellent PhD defense today. Lot of work & well-deserved title. 👏🏻👏🏻👏🏻@GeneticNijmegen @radboudumc_weet #USH2A #ushersyndrome
DOES THIS MUTATION CAUSE BLINDNESS? IT DOES, DOESN’T, DOES!
JANINE REURINK ENDS LONG LASTED CONTROVERSY WITH MAJOR IMPLICATIONS FOR HEALTHCARE
#Ushersyndrome #USH2A #RP
https://t.co/FYizQFpktr
And we have winners!!!! The jury decided… Best pitch for Sarah de Jong! most impactful paper for Janine Reurink!Congrats to both of them,co-authors and supervisors!!! #AMD #USH2A
@radboudumc_weet @anneke_denh @Jandritu @SusanneRoosing @hannie_kremer @GeneticNijmegen @collinrwj
Our paper is out in @HGGAdvances! We did WGS for 100 unexplained USH2A-associated Ush and RP cases and developed AON correction for 4 variants. Congrats for this last chapter of your thesis, Janine Reurink! Project funded by @VeluxStiftung. #USH2A @usher_syndroom @GeneticNijmegen
Researchers conducted whole genome sequencing for USH2A-associated disease and uncovered thirteen variants that were shown to affect USH2A pre-mRNA splicing.
Read more in @HGGAdvances: https://t.co/fo7GzuddLG
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