Clinic booking ≠ gene therapy screening.

Evaluating advanced therapy review pathways in China requires a review-ready medical dossier—not just a standard clinic booking. Missing pathology records, incomplete treatment history, or poorly translated genetic reports can stop institutional review before it begins. MedBridgeNZ organizes medical records and molecular reports for administrative review-readiness.

#GeneTherapy #RareDisease #MedicalConcierge

💛 You are more than your PKU.

🌱 Maddison, 27, drifted from the PKU diet as a teen — the pressure of being "different" got too much. Now she's working her way back to it while juggling full-time work and college.

Her message: "Keep trying and keep advocating for yourself! You can do it and always ask for support when you need it."

Quick read — her full story here 👇
https://www.pigpen.page/you-are-more-than-your-pku/

My thanks to Maddison for Sharing her Story
#PKU #RareDisease #YouAreMoreThanYourPKU

Pipeline release! nf-core/raredisease v3.0.0 - 3.0.0 - Mario!
Call and score variants from WGS/WES of rare disease patients.
Please see the changelog: https://github.com/nf-core/raredisease/releases/tag/3.0.0

#diagnostics #raredisease #snv #structuralvariants #variantannotation #variantcalling #wes #wgs #nfcore #openscience #nextflow #bioinformatics

Liebe Mitmenschen.
Nur noch bis Ende 11.05.2026! #icd11jetzt - Schnellere & bessere Hilfe für Kranke. Bitte zeichnet!
JEDE Stimme hilft!
#Lyme #mecfs #LongCovid #lgbtq+ #ChronicPain #RareDisease und viele mehr!

Petitions-Link:
https://epetitionen.bundestag.de/content/petitionen/_2025/_09/_16/Petition_186702.html
.

new paper: "A dataset of rare copy number variants associated with neurodevelopmental and neuropsychiatric disorders" https://doi.org/10.1038/s41597-026-07345-6

"We present a curated machine readable dataset, CNVPathwayAtlas, that integrates 38 pathogenic CNVs with their genomic coordinates, affected genes, molecular pathways, associated syndromes, and phenotypes. Each CNV is linked to a curated molecular pathway providing mechanistic insight into affected biological functions."

#CNV #rareDisease

Krankenhaus (geplant aber trotzdem) macht demütig. Aus unserer Transplant Kohorte steht mindestens eine Retransplantation an. Ein Aufenthalt ( so kurz er auch immer ist), reißt viele Wunden auf.

#LebenMitTransplantKid #Fedieltern #RareDisease

Fatal Familial Insomnia is a rare inherited prion disease that progressively destroys the brain’s ability to regulate sleep and autonomic function. Research is now exploring gene-targeted therapies.

#FatalFamilialInsomnia #RareDisease #PrionDisease #Neurology #Telehealth