#raredisease — Public Fediverse posts

https://www.europesays.com/ch/127437/ Novartis sees another setback, this time with neuromuscular drug #DrugDevelopment #Novartis #Pharmaceuticals #RareDisease #STAT+

I’ll attend the #EuroNDD Workshop in Warsaw in April. Anyone around the Fediverse going there as well? —> let’s connect!

I’m looking forward to present our work at https://www.findme2care.de AND hear about all the other projects.

Also: I’ll be co-hosting an educational session and roundtable discussion titled „Building Patient Registries under the GDPR – The Good, the Bad and the Ugly“ —> there are a few seats left for conference attendees!

#humangenetics #genetics #RareDiseases #RareDisease #ERN #ERNIthaca #patientregistry

Although the genetic cause of #PWS is known, therapeutic treatment primarly targets its symptoms. #PreclinicalResearch (often in mice) is essential to make progress on understanding the functioning of the involved genes and to develop new targeted therapies. In this research project we developed new PWS mouse models and analysed their phenotype (e.g., body features, behaviour and metabolism) using standardized experimental and analytical pipelines.

#PraderWilliSyndrome #RareDisease

#PWS is caused by a loss of function of genes on chromosome 15. These genes are peculiar, because they are in normal condition always expressed only from the paternal allele, the allele which is coming from the father, and not from both maternal and alleles – due to an epigenetic phenomenon called #GenomicImprinting. PWS patients either have parts of the paternal allele deleted or they have maternal uniparental disomy (#UPD) – a condition with effectively two maternal alleles instead of paternal and maternal alleles. This leads to a condition where some genes are not expressed at all, thus, their proteins and functions are missing for the proper development and functioning of the human body.

#PraderWilliSyndrome #RareDisease

Prader-Willi-Syndrome (PWS) is a rare genetic disorder, firstly described by Prader, Labhart and Willi in 1956 [1]. Individuals with PWS typically have feeding issues in early childhood, followed by obesity, but possible symptoms include social behavioural and intellectual problems:
https://en.wikipedia.org/wiki/Prader%E2%80%93Willi_syndrome

[1] Prader, A., Labhart, A. & Willi, H. Ein Syndrom von Adipositas, Kleinwuchs, Kryptorchismus
und Oligophrenie nach myatonieartigem Zustand im Neugeborenenalter. Schweiz. Med.
Wochenschr. 86, 1260–1261 (1956).

#PraderWilliSyndrome #PWS #RareDisease

Today, I am happy to share with you our recent manuscript, “The Preclinical Animal Network (PCAN): Integrative high-throughput phenotyping of standardized mouse models for Prader-Willi syndrome”, available on @biorxivpreprint
https://www.biorxiv.org/content/10.1101/2025.10.24.684371

#PraderWilliSyndrome #PWS #GenomicImprinting #RareDisease #DigitalTwin #MouseGenetics #FPWR