Rare Disease Day 2024: The countdown begins!
ReadSummary of Edition of 30 November 2023
Editorial
Political news
European News
EURORDIS: New framework to support patient partnerships across ERNs
ReadSubmit your photo for the 2024 Black Pearl Awards Photo Contest
ReadThe European Joint Programme on Rare Diseases (EJP RD) needs your help to shape the Virtual Platform Portal
ReadReport from the RDAF workshop on post-marketing registries
ReadBeyond Beyond 1 Million Genomes: new Roadmap and Framework for genomics initiatives
ReadHealth Economics
Cost of illness in inclusion body myositis
ReadQuality of Care
Bringing patients into contact with the scientific community: Lessons from the Leigh Syndrome symposium
ReadData Management
Updates and activities of the Human Phenotype Ontology
ReadEpidemiology
Estimating mortality in rare diseases using a population-based registry
ReadScientific news
And also...
Credits
OrphaNews, The Newsletter for the Rare Diseases Community.
The production of OrphaNews is supported by the Fondation IPSEN – Fondation de France.
Editor-in-chief: Ana Rath
Associate Editor: Charlotte Rodwell
Editor: Madeline Cuillerier
Editor for Scientific Content: Henri Jautrou
Scientific monitoring: Hélène Jagline
Contact Us
Editorial Board: Victoria Hedley, Yann Le Cam, Charlotte Rodwell, Anna Bucsics, Ivana Cattaneo, Daria Julkowska, Alexis Arzimanoglou, Henri Jautrou, Holm Graessner, Julie Bruyere-Zrelli, Andrea Osvoll, Stanislav Ostapenko, Valentina Bottarelli, Dave Pearce, Samantha Parker, Alexandra Heumber Perry
ADVISORY EDITORIAL BOARD
Orphanet Partner Country Representatives: Romi Armando (Argentina), Tamara Sarkisan (Armenia), Till Voigtlander (Austria), Elfriede Swinnen (Belgium), Rumen Stefanov (Bulgaria), Ingeborg Barisic (Croatia), Marios Antoniades (Cyprus), Milan Macek (Czech Republic), Vallo Tillmann (Estonia), Helena Kääriäinen (Finland), Stefanie Weber (Germany), Eileen Treacy (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Atsuhiko Kawamoto (Japan), Madara Auzenbaha (Latvia), Birute Tumiene (Lithuania), Dijana Plaseska Karanfilska (North Macedonia), Neville Calleja (Malta) Abdelaziz Sefiani (Morocco), Wendy va Zelst-Stam (Netherlands), Stein Are Aksnes (Norway), Krystyna Chrzanowska (Poland), Cristina Rusu (Romania), Sergey Kutsev (Russia), Dragica Radojkovic (Serbia), Gabriela Hrčková (Slovakia), Luca Lovrecic (Slovenia), Francesc Palau (Spain), Rula Zain (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H’mida-Ben Brahim (Tunisia), Ugur Ozbek (Turkey), Sarah Stevens (UK)
Country Correspondants: Gareth Baynam (Australia)
Disclaimer: The content of newsletter represents the views of the Editorial Board only and is his/her sole responsibility; it cannot be considered to reflect the views of its financers.