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Summary of Edition of 30 November 2023

Rare Disease Day 2024: The countdown begins!

ERN eUROGEN and partners launch webinar series for Ukraine

ERN eUROGEN signs manifesto for policy reform on continence health in Europe

ERN GUARD-Heart accepting applications for 2023-24 exchange programme

MetabERN survey for primary mitochondrial disorder specialists

OrphaNews wants your opinion!

Submit your poster abstract for ECRD 2024

Undiagnosed Disease Programs around the world: towards equitable access to diagnosis

NORD: New resources on genetic testing

EURORDIS: New framework to support patient partnerships across ERNs

Submit your photo for the 2024 Black Pearl Awards Photo Contest

The European Joint Programme on Rare Diseases (EJP RD) needs your help to shape the Virtual Platform Portal

Report from the RDAF workshop on post-marketing registries

Beyond Beyond 1 Million Genomes: new Roadmap and Framework for genomics initiatives

Cost of illness in inclusion body myositis

Bringing patients into contact with the scientific community: Lessons from the Leigh Syndrome symposium

Evaluating current NBS practice in the UK: a comparison with EURORDIS principles

Current challenges in genomic newborn screening

Updates and activities of the Human Phenotype Ontology

Artificial intelligence: current and future applications to rare diseases

Characterising missense variants for diagnosis of genetic disorders

Estimating mortality in rare diseases using a population-based registry

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.