explore | Grilled Cheese

🔵 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

Caroli Disease is a rare congenital disorder where bile ducts inside the liver become abnormally widened, leading to recurrent infections and stone formation.

Learn more: https://www.malacards.org/card/caroli_disease

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

🚀 Working on a #RareDisease innovation?
Learn what investors look for and how to pitch your project effectively at ERDERA's upcoming webinar. 📅 16 Sept 2026 ⏰ 11:00 CEST 💻 Online
Researchers, venture builders & VCs share practical insights.
🔗 Register: https://loom.ly/zp3wAJM
#ERDERA

" #VitaminK is important to know all about as a patient with #AntiphospholipidSyndrome, as it interacts with #warfarin and is a key contributor to the #BloodClotting process.": buff.ly/rScJ3hC

#MondayBlogs #ChronicIllness #RareDisease #bleeding #AutoimmuneDisease #Blood

DYK: September is Pain Awareness Month
If you live with #ChronicPain, what do you wish people without chronic pain understood?

linktr.ee/thezebraalliance #chronicillness #raredisease #invisibleillness #disability #dynamicdisability #mentalhealth #healthcare

Busy schedules make mental wellness challenging. How do you carve out time for yourself? #RareDisease

It really grinds my gears that mom doesn’t think my disability is a disability.
#XLH
#crysvita
#raredisease
xlhnetwork.org

Acrodermatitis Enteropathica is a rare inherited disorder that blocks zinc absorption, causing a distinctive skin rash, chronic diarrhea, and hair loss in infants.

Learn more: https://dub.sh/acr-ent

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

Bronchopulmonary dysplasia: Imaging findings https://gamuts.net/x/14904 #radiology #RareDisease #FOAMed

A reproducible transcriptomic signature supports interpretation of metatranscript-only TTN variants in recessive titinopathy #RareDisease #Genetics link.springer.com/article/10.1...

DIPNECH is a rare lung condition where hormone-releasing cells overgrow in the small airways, causing chronic cough and wheezing often mistaken for asthma.

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

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

Intellectual deficit - hypotonia - skin hyperpigmentation: #Radiology findings https://gamuts.net/x/34670 #RareDisease #FOAMrad #Gamuts

A new case study highlights a rare form of EpidermolysisBullosa simplex (EBS). Unlike typical EBS, affected newborns may present with distinctive scarring and skin absence, making diagnosis challenging. Read why early diagnosis is so important. #RareDisease

🧬 Could genome editing transform treatment for glycogen storage diseases?

A new #JIMD review from Troy von Beck, Raymond Wang & Dwight Koeberl looks at progress from preclinical editing towards clinical translation and the challenges still ahead.
doi.org/10.1002/jimd...

#GSD #CRISPR #RareDisease

Over the last three days, our PhD student Silvia represented the Niessing Labs at the 2026 GSCN Conference in Berlin! 🧬 She shared our research on PURA syndrome, connected with fellow stem cell researchers, and brought home new ideas and inspiration. 🔬

#stemcell #purasyndrome #raredisease #phdlife

Sharing your story helps break stigma and educate others. What part of your journey do you want to share? #RareDisease

Out of 31 known cases of spinal muscular atrophy with progressive myoclonic epilepsy, 3 are in the Vehling household.

The NORD #RareDisease Center of Excellence at #CedarsSinai is working with the Vehlings to lead research into a potential stem cell treatment: www.cedars-sinai.org/newsroom/thr...