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Summary of Edition of 30 January 2024

Rare Disease Day 2024: Make your voice heard!

ERN ReCONNET: Surveys for HCPs and SLE patients

ERN ReCONNET: webinar on characterization of pain

ERN-LUNG: new working group on undiagnosed patients

Submit your poster abstract for ECRD 2024

New IRDiRC publication: Progress and opportunities in drug repurposing

Results of the 2023 GBCR selection process

Chile: Preliminary results of the DECIPHERD program for undiagnosed diseases

NORD report on Latinos and rare diseases

Involve Australia launches guidelines for community involvement in genomic research

Conclusions of the Conference on Rare Diseases and European Reference Networks

EURORDIS announces strategic pathways and collaborative endeavours for 2024

EURORDIS launches Social Policy Action Group

EMA human medicines highlights 2023

First version of the Union list of critical medicines published

Towards universal health coverage for rare diseases in Europe

Looking back on the IV Regional conference on rare diseases

EMA: 2 positive opinions on market authorisation with an orphan designation in December 2023

EMA: 14 new positive opinions for orphan designation accorded by the COMP in December 2023

FDA: 14 new market authorisations granted in December 2023

FDA: 53 new orphan designations approved in December 2023

Advantages of first-tier WES for shortening the diagnostic odyssey

Design of the German Porphyria Registry (PoReGer)

Recommending statistical methods for cross-over trials in rare disease

Using large language models to phenotype rare diseases

Epidemiology of rare haematologic diseases in Albania

Rare disease mortality in Veneto Region, Italy

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.