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Summary of Edition of 02 November 2023

Conference of the Spanish Presidency calls for a European Action Plan for Rare Diseases

OrphaNews wants your opinion!

Rare disease community calls on EU institutions to strengthen support for ERNs

Cross-ERN survey on the management of primary mitochondrial disorders

BlueBerry Blueprint: Towards a sustainable EURACAN registry

Apply for the first edition of the VASCERN Summer School!

VASCERN Days 2023: Recap

ERN GENTURIS outlines implementation of new nomenclature

RARE-LIVER COVID Update Autumn 2023

eUROGEN new educational videos

2023 SNOMED CT to Orphanet nomenclature map now available

Screen4Care and partners announce the launch of the International Consortium on Newborn Screening

Unmet needs in undiagnosed rare diseases: Findings from the Undiagnosed Diseases Network International

NORD: New report on health equity and the diagnostic odyssey

India introduces new schemes to boost R&D for rare diseases

NORD launches new educational series on drug development

Orphan designation applications for gene therapies in rare diseases: a COMP analysis

Revolutionising newborn screening for early diagnosis of rare diseases: the Screen4Care approach

Public consultation on revision of the EU general pharmaceuticals legislation

Next-generation sequencing for newborn screening: an IRDiRC survey of European initiatives

Call to participate in an Enpr-EMA study on discrimination in paediatric clinical trials

Managing uncertainty for highly specialised technologies: the Living HTA framework

Boosting orphan drug development in China: an overview of current and future incentives

Psychological impacts of COVID-19 on the rare disease community

Evidence-based decision-making for newborn screening: lessons from Spain

Using generalised pairwise comparisons to boost clinical trial power

Rare disease registries for the development of AI-based tools: current challenges

Simulating undiagnosed patients to evaluate tools for genetic diagnosis

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.