https://angiodysplasie.ch/reisen-mit-sbb-umgang-mit-unsichtbaren-behinderungen-im-oev-und-mehr-verstaendnis-durch-kleine-zeichen/
#sbb #HiddenDisabilities #rareDiseases #Schweiz
New POSTnote briefing on 'Diagnosis and treatment of
rare genetic diseases' (POSTnote 763, doi.org/10.58248/PN763 ) has been published, with contributions from the UOI's Dominic Wilkinson.
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
How Rare Disease Patients Are Rewriting The Rules Of Medicine

PNH & aHUS Market Growth Report 2026–2035 📊
The Paroxysmal Nocturnal Hemoglobinuria (PNH) and Atypical Hemolytic Uremic Syndrome (aHUS) market is projected to grow from $5.97B in 2025 to $6.41B in 2026, driven by rising rare disease diagnosis, advanced testing, and next-generation complement inhibitors.
Get the free sample report:
https://www.thebusinessresearchcompany.com/sample.aspx?id=24357&type=smp
💡 A genuine surprise: The active ingredient in #Viagra, sildenafil, helps treat a rare genetic disorder! This unexpected finding has now been uncovered by researchers at #CharitéBerlin. The drug showed positive effects on the course of the disease in six patients with #Leigh syndrome. More on the promising results:

There are around 36 million patients suffering from rare diseases in the EU. This in-depth analysis gives an overview of European actions for rare diseases to date and identifies opportunities and gaps for further EU level actions to improve diagnosis, care, and treatment for rare diseases. This document was provided by the Policy Department for Economic, Scientific and Quality of Life Policies at the request of the Committee on Public Health (SANT).
what it's like to have erythropoietic protoporphyria:

Kris Kinar lived 30 years with EPP, spending most of his time indoors. After a tough diagnosis in his mid-30s, he thought he would live with it for the rest of his life. In early 2025, he began a clinical trial after meeting a doctor who understood the science.