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

Friedreich Ataxia is a rare inherited disease from a GAA repeat expansion in the FXN gene, causing progressive loss of coordination, muscle weakness, and heart problems.

Learn more: https://www.curefa.org

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

Congenital ichthyosis - intellectual deficit - spastic quadriplegia https://gamuts.net/x/35282 #RareDisease #MedEd #FOAMrad

You define your own life. Don’t let others write your script. #RareDisease

Huge credit to Naama Harari Uzan (@naamaharari.bsky.social), who conceived, led, and coordinated this story in our lab.

Read the full Comment here: www.nature.com/articles/s41...

rdcu.be/yeVGkJF6oURa

#BasicScience, #PatientEngagement, #RareDisease, #Neuroscience, #TranslationalResearch

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features #RareDisease #Genetics #morbidgene www.cell.com/ajhg/abstrac...

Prader-Willi Syndrome is a rare genetic imprinting disorder causing infant hypotonia followed by insatiable hunger, developmental delay, and endocrine problems in children.

Learn more: https://www.pwsausa.org

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

Encephalocraniocutaneous lipomatosis: Imaging findings https://gamuts.net/x/27516 #radiology #RareDisease #FOAMed

Marfan Syndrome is a genetic connective tissue disorder from FBN1 mutations, affecting the skeleton, eyes, and heart, most seriously by weakening and enlarging the aorta over time.

Learn more: marfan.org

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

🇺🇦 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

🇺🇦 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

Kawasaki disease: #Radiology findings https://gamuts.net/x/13294 #RareDisease #FOAMrad #Gamuts

Glycogen storage disease type Ia is a rare, life-threatening inherited disorder of carbohydrate metabolism caused by biallelic pathogenic G6PC variants leading to glucose-6-phosphatase deficiency.

#genomics #ClinicalGenetics #RareDisease

AMT-130 Moves Forward in Regulatory Review uniqure.gcs-web.com/news-release...
#HDReach #ReachForHope #ReachingForHope #curehd #curejhd #raredisease #huntingtonsdisease #hd #jhd #huntingtons #letstalkabouthd

'MINPP1-related pontocerebellar hypoplasia' added to DDG2P. Biallelic LoF variants in MINPP1 cause a disorder characterised by severe global developmental delay with a distinct type of pontocerebellar hypoplasia, hypotonia, and early-onset epilepsy. See www.ebi.ac.uk/gene2phenoty... #RareDisease