Latest News
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First Global and Fifth International Symposium Rare Disease Day 2025 – 8 March...
On behalf of the organizers, we are pleased to invite you to participate in the First Global and Fifth International Symposium Rare Diseases Day 2025 „ More than you can imagine – more than you can dream of!” organized on the occasion of the Rare Disease Day by Regional Specialized Children’s Hospital in Olsztyn and […]
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EC publication of a booklet on ERNs success stories
The European Commission has just published a special ERN booklet to promote European Reference Networks. This document provides an overview of the 24 networks and showcase their achievements into the rare diseases field. For its writing, each ERN was asked to share three success stories to show how our networks concretly and conclusively impact patient […]
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New clinical guidelines for the diagnosis and management of spinal dysraphism in children...
We are excited to announce the release of the new clinical guidelines for the diagnosis and management of spinal dysraphism in children and adolescents, with a strong focus on urological health! 🩺💧 These groundbreaking guidelines address key challenges in the care of children with spinal dysraphism, ensuring a holistic approach to: ✅ Early identification of […]
Open Calls
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March 5, 2025
Further clinical and genetic delineation of autosomal recessive FAR1-associated neurodevelopmental disorder
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March 5, 2025
Clinical, molecular and functional characterisation of the KLC4-related disorder
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February 25, 2025
2p16.1p15 microdeletion
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February 19, 2025
Deep phenotyping and natural history of less characterised dopamine synthesis disorders