💛 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