🇺🇦 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

🇺🇦 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

Get 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

Explore 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...

Take a closer look: https://bit.ly/46ehJLL

When summer became something she could only watch from behind a window, columnist Shawna Barnes learned to love being a fall person.

#MyastheniaGravis #RareDisease #MG #MyastheniaGravisNews #Bionews

Join us on Wed 7 Oct for a packed programme of talks, panels and interactive workshops at #RAREsummit26 - exploring policy, care, health data, partnerships and innovation.
📍 Cambridge or online
🎟️ Programme & tickets: camraredisease.org/raresummit26...
#RareDisease #RareConditions

Left Ventricular Noncompaction Cardiomyopathy (LVNC) is a rare heart disorder causing a spongy, grooved heart wall that raises the risk of heart failure and dangerous arrhythmias.

Learn more: https://dub.sh/LVNC

You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness

🧬 Newborn Screening + diagnosis with 🦓 rare condition #PKU did not stop these 4 remarkable advocates who went on to successful, rewarding arts careers. Celebrate success stories in #raredisease this #NewbornScreeningAwareness month by sharing their free panel: www.youtube.com/watch?v=miuz...

Adams-Oliver syndrome: Imaging findings https://gamuts.net/x/19230 #radiology #RareDisease #FOAMed

TRACE: A Framework for Integrating Transcript Relevance Into ACMG/AMP Variant Interpretation #RareDisease #Genetics onlinelibrary.wiley.com/doi/10.1155/...

7 September. DMD Day. Awareness matters because DMD is so much more than muscle weakness, and greater understanding can help families find earlier support, better care, and access to treatments that can make a real difference. 💙 #DuchenneMuscularDystrophy #raredisease

Cyclin C nuclear release and mitochondrial dysfunction define molecular signatures of MED13L Syndrome #RareDisease #Genetics www.cell.com/hgg-advances...

Simplifying your routine can prevent overwhelm. What’s one thing you’ve simplified recently? #RareDisease

Development of RS1-specific ACMG/AMP variant classification criteria with pilot variant curation #RareDisease #Genetics #ClinGen #ACMG link.springer.com/article/10.1...

Join CamRARE on Wednesday 7 October for a packed programme of talks, panels and interactive workshops at #RAREsummit26 - exploring policy, care, health data, partnerships and innovation.
📍 In person or online
🎟️ www.camraredisease.org/raresummit26...
#RAREsummit26 #RareDisease #RareCondition

Sjögren's Syndrome is a rare autoimmune disease attacking moisture-producing glands, causing chronic dry mouth and dry eyes, with possible joint, skin, and organ involvement.

Learn more: https://sjogrens.org/

You may be rare, but you're not alone!
#rareDisease #rareDiseaseAwareness

#RareDisease: Cataract - intellectual deficit - anal atresia - urinary defects https://gamuts.net/x/34169 #radiology #FOAMed #FOAMrad

One rare diagnosis doesn’t necessarily explain everything.

A new #JIMDReports case describes MPS I diagnosed in a patient with Wolf–Hirschhorn syndrome, a striking example of diagnostic overshadowing in rare disease.

doi.org/10.1002/jmd2...

#MPSI #RareDisease

Ohne diese wäre ich heute nicht hier.
Vermutlich nicht am Leben.
Und auf keinen Fall hier.
Am Strand. Mit meinem #Punktehund. 💜
#Nutznießer #Gesundheit #Gesundheitspolitik #EhlersDanlosSyndrom #Heds #SelteneErkrankung #smallFiberNeuropathie #sfn #Kptbs #dis #NotJustSad #rareDisease #NieWieder

Your effort counts, even when the outcome looks different than before.

#RareDisease