@hdreach.bsky.socialBrandi is in Houston for the HSG conference! Always great to connect with others in the HD community, learn what's happening in research and care, and bring new ideas back. 💙
#HDReach #ReachForHope #ReachingForHope #curehd #curejhd #raredisease #huntingtonsdisease #hd #jhd #huntingtons
@franmartinezgr.bsky.socialLRP12 CGG Repeat Expansions in Patients With Adult-Onset Non-5q Spinal Muscular Atrophy #RareDisease #Genetics www.neurology.org/doi/10.1212/...
@angioedemanews.bsky.socialTake a closer look: https://bit.ly/4hlD5fe
Whether you're dealing with gremlins or angioedema, writing down clear instructions is crucial, says columnist Danita LaShelle Jones.
@zebrabande.bsky.socialGeht der andere unter...
Ich bin einfach sooo müde davon.
#Ehlers-DanlosSyndrom #hEDS #selteneErkrankung #Motilitätsstörung #SFN #rareDisease #NotJustSad #Kptbs #dis #dissoziativeIdentitätsstörung #gastroparese #parenteral #Palliativ #trauma #smallFiberNeuropathie
@angioedemanews.bsky.socialDiscover more: https://bit.ly/4ylpkVk
A long-acting therapy for hereditary angioedema substantially reduced HAE swelling attacks for about six months, updated trial data show.
@eurordis.bsky.social🎬 Our latest #10MinutesWith is now on YouTube!
Taylor Kane joined Rhiannon Walls to talk about young people’s role in #RareDisease advocacy and turning lived experience into action.
Her advice to young advocates? “Just start.”
▶️ Watch: https://go.eurordis.org/latestEp10MW
@mgnews.bsky.socialVisualization techniques support goal achievement. What future do you visualize for yourself? #RareDisease
@rarectadvocate.comRetinoblastoma: a rare childhood eye cancer that starts in the retina, the light-sensing tissue at the back of the eye. Caused by changes in the RB1 gene and is highly curable when found early
Learn more https://dub.sh/eyec
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
@gamuts.netPendred syndrome: #Radiology findings https://gamuts.net/x/23333 #RareDisease #FOAMrad #Gamuts
@angioedemanews.bsky.socialDiscover how to navigate intimacy and angioedema: https://bit.ly/43DYuLc
Your condition doesn’t define your worth—take charge of your sexual and emotional well-being, one step at a time.
#Angioedema #SexualHealth #ChronicIllness #PatientSupport #RareDisease #AngioedemaNews #Bionews
@mgnews.bsky.socialFinding an MG-friendly stay: https://bit.ly/4s5SwMV
#RareDisease #Disability #Accommodation #MyastheniaGravisNews #Bionews
@cilib.bsky.socialBig thanks to everyone who came to Cologne! Really enjoyed the time together, the great conversations, and all the fruitful discussions. Hope you had a good time here too - already looking forward to the next one!
@erneurogen.bsky.social#EUfunded #RareDisease #ERNs #PedUro #SoMe4PedSurg @ec.europa.eu @jardinjointaction.bsky.social @espu.bsky.social
@angioedemanews.bsky.socialTake a moment today to recognize your progress: https://bit.ly/4kUuC33
It’s easy to get caught up in “what ifs” about the future, but don’t forget to celebrate how far you’ve come.
#Angioedema #HAE #ChronicIllness #CaregiverLife #ProgressNotPerfection #RareDisease #AngioedemaNews #Bionews
@franmartinezgr.bsky.socialVariants in TREX complex subunits (THOC2, ALYREF, THOC6, THOC7) define a neurodevelopmental disability spectrum #RareDisease #Genetics #morbidgene www.sciencedirect.com/science/arti...
@mgnews.bsky.socialExplore the details: https://bit.ly/4AvfSjl
A study linked a type of minimally invasive thymus removal surgery to reductions in disease severity and medication use in MG patients.
#MyastheniaGravis #RareDisease #MG #MyastheniaGravisNews #Bionews
@rarectadvocate.comDuane Retraction Syndrome: a rare congenital eye movement disorder from abnormal nerve wiring. The eye can pull back into its socket when looking inward. Glasses, prisms, or surgery help.
Learn more: https://dub.sh/aapos
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
@gamuts.netJohanson-Blizzard syndrome: Imaging findings https://gamuts.net/x/8723 #radiology #RareDisease #FOAMed
@umasschan.bsky.socialThe FDA has approved a clinical trial for the ultra-rare disease Mucolipidosis Type IV that will take place at UMass Chan Medical School: https://direc.to/p3N5
Mass General Brigham researchers are co-leading the MLIV trial.
#ClinicalTrial #GeneTherapy #RareDisease @mgbresearch.bsky.social
@gene2phenotype.bsky.social'ZRSR2-related oral-facial-digital syndrome' added to DDG2P. Monoallelic X hemizygous LoF variants in ZRSR2 cause a disorder characterised by mild global developmental delay, and oral, facial, digital, and brain anomalies. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene
