Back

Summary of Edition of 19 December 2024

EESC calls for a European Action Plan on Rare Diseases

Results of the 5-year evaluation of the European Reference Networks

Recap of the cross-ERN workshop on spina bifida & other dysraphisms

ERKNet surveys on intraperitoneal pressure measurements and green dialysis practices

ERKNet/ESPN consensus statement on congenital nephrogenic diabetes insipidus

ERN-EYE: Challenges and solutions for delivering new therapies to people with inherited retinal dystrophies

ERN GENTURIS guidelines on CMMRD

New ERN eUROGEN brochure for patients and families with ARM

ERN RARE-LIVER survey on social determinants of health

New ERN RARE-LIVER publications

Looking back on the 2024 ERN RITA General Assembly

New clinical pathway recommendations for Pompe disease by MetabERN

Available now: Abstracts from the 2024 European Conference on Rare Diseases

"Creation of Orphanet Abstracts" course wins UNIGE's 2024 prize for educational innovation

Results of the 2023 Orphanet User Satisfaction Survey

Orphanet (INSERM) and SNOMED International renew collaboration agreement

Rare Disease Day 2025: The countdown begins!

The IRDiRC roadmap for N-of-1 therapy development

Sign the Global Biodata Coalition's open letter

Updates from the Global Alliance for Genomics and Health: 2025 Plenary, call for Board members, and more

NORD call for patient registries to join IAMRARE

The first ERDERA Joint Transnational Call is open!

Make your submission to the 2025 EURORDIS Photo Award!

Launch of the EURORDIS Patient Partnership Hub

EMA: New market authorisations with an orphan designation in October and November 2024

EMA: New orphan designations accorded by the COMP in October and November 2024

FDA: New market authorisations with orphan designation granted in October and November 2024

FDA: New orphan designations approved in October and November 2024

Assessing interventions to address information needs among rare cancer survivors

Factors influencing the decision to accept or decline prenatal screening

Methodological approaches to overcome uncertainty in evaluating quality of life in rare diseases

Looking back on the first Undiagnosed Hackathon

Epidemiology of rare diseases in Brazil: Findings from the RARAS study

Credits

OrphaNews, The Newsletter for the Rare Diseases Community.
Editor-in-chief: Ana Rath
Associate Editor: Charlotte Rodwell
Editor: Madeline Cuillerier
Scientific editor: Perrine Renard
Contact Us
Editorial Board: Victoria Hedley, Yann Le Cam, Charlotte Rodwell, Anna Bucsics, Ivana Cattaneo, Daria Julkowska, Alexis Arzimanoglou, Holm Graessner, Julie Bruyere-Zrelli, Andrea Osvoll, Stanislav Ostapenko, Valentina Bottarelli, Dave Pearce, Samantha Parker, Alexandra Heumber Perry, Perrine Renard

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.