@erneurogen.bsky.social🇺🇦 Paediatric Urology Webinar Series for Ukraine: Rare Urological Stones
🗓 10 September
⏰ 18:00 CEST / 19:00 EEST
🎙 Dr. Anna Bujons Tur
🔗 tinyurl.com/eurogen10sep26
#EUfunded #EU4Health #HealthUnion #RareDisease #ERNs #PedUro #SoMe4PedSurg
@gene2phenotype.bsky.social'CDK20-related ciliopathy with midline brain and facial anomalies' added to DDG2P. Biallelic LoF variants in CDK20 cause a disorder characterised by severe ventriculomegaly or hydrocephalus, and midline brain and facial anomalies. See www.ebi.ac.uk/gene2phenoty... #RareDisease #morbidgene
@childrensmercy.orgWhere a child lives shouldn't determine how quickly they receive a diagnosis.
Discover how genetic research is helping identify and support rare disease patients in rural and underserved communities while expanding access to care.
@mgnews.bsky.socialConfidence & urgency in appointments: https://bit.ly/4tjvJ00
#MyastheniaGravis #ChronicIllness #RareDisease #MyastheniaGravisNews #Bionews
@mgnews.bsky.socialLeave a 🙅 in the comments if your body cooperates on some days but not today. #RareDisease
@franmartinezgr.bsky.socialPathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis #RareDisease #Genetics #morbidgene onlinelibrary.wiley.com/doi/10.1111/...
@erneurogen.bsky.social🔵 Preventing UTIs in neurogenic bladder: join our webinar with José Medina-Polo to explore the evidence on optimal UTI prevention, incl non-antibiotic approaches.
📅 16 Sept 🕕 18:00 CEST
🎓 EACCME accredited
🔗 tinyurl.com/eurogen16sep26
#EUfunded #EU4Health #HealthUnion #RareDisease #ERNs #Urology
@mgnews.bsky.socialExplore the details: https://bit.ly/4gFhvmU
Self-injectors used to deliver gefurulimab can be safely and effectively used by most people with generalized myasthenia gravis, per a study.
#MyastheniaGravis #RareDisease #MG #MyastheniaGravisNews #Bionews
@lumanity.bsky.socialIn the latest installment of our Voices of Rare Disease series, Krystyn LaBate, PhD speaks to the realities families face, where the system still falls short, and how industry, advocates, and caregivers can do better together.
Watch her story: buff.ly/1TONLmV
@genox-veille.frAn international collaboration assembled 21 affected individuals carrying 18 rare heterozygous protein-altering ZNF536 variants, 15 of 18 being predicted loss-of-function alleles.
@rarectadvocate.comChoroideremia is a rare inherited eye disease that slowly destroys the retina, mostly in males, causing childhood night blindness that progresses toward legal blindness over time.
Learn more: https://curechm.org/
You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness
@sal-ai.bsky.socialCheck out the latest article in my newsletter: The Standing Answer www.linkedin.com/pulse/standi... via @LinkedIn #AI #Genomics #AlphaGenome #HealthTech #RareDisease #Science #AIResearch #Health
@gamuts.netMicrophthalmia - ankyloblepharon - intellectual deficit: #Radiology findings https://gamuts.net/x/34899 #RareDisease #FOAMrad #Gamuts
@walesgenepark.bsky.socialWe’re delighted to be at the #FutureforRare Summit 2026.
Today’s event brings together the #RareDisease community to explore what a successor policy to the UK Rare Disease Framework should look like.
It’s set to be an exciting day, and we’re pleased to be here with @lifearc.bsky.social.
@ancan501c3.bsky.social#Sarcoidosis may be a #raredisease, but that doesn't mean you're alone. Join us TONIGHT - 2nd Wednesdays at 7pm ET.
Our peer moderators know what it's like because they or their loved one lives with it. Join the meeting directly here:
https://www.gotomeet.me/ancanschmier
@erneurogen.bsky.social🇺🇦 Paediatric Urology Webinar Series for Ukraine: Rare Urological Stones
🗓 10 September
⏰ 18:00 CEST / 19:00 EEST
🎙 Dr. Anna Bujons Tur
🔗 tinyurl.com/eurogen10sep26
#EUfunded #EU4Health #HealthUnion #RareDisease #ERNs #PedUro #SoMe4PedSurg
@erneurogen.bsky.social🇺🇦 Серія вебінарів з дитячої урології для України: Рідкісні урологічні камені
🗓 10 вересня
🕕 18:00 CEST / 19:00 EEST
🎙 Доктор Анна Буйонс Тур
🔗 tinyurl.com/eurogen10sep26
#EUfunded #EU4Health #RareDisease #ERNs #PedUro #SoMe4PedSurg
@mgnews.bsky.socialGet the scoop: https://bit.ly/4qYks5D
Satisfaction with treatment doesn't necessarily affect adherence in people with myasthenia gravis, according to a study in China.
#MyastheniaGravis #RareDisease #MG #MyastheniaGravisNews #Bionews
@jaxeducation.bsky.socialExplore interactive, free resources developed by #RareDisease experts at @jax.org! 👇
⏱️ 15 MINUTES | Learn about the complexity of rare disease & the unique challenge it presents. Explore the patient journey—from diagnosis to research to drug development: education.learning.jax.org/the-complexi...
@angioedemanews.bsky.social