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Summary of Edition of 31 January 2023

Rare Disease Day is coming!

Launch of the evaluation of the European Reference Networks

FAIRification of data in ERN patient registries: a data steward team approach

RITA-ERN survey results: current transition practice for IEI in Europe

Endo-ERN: 5-year evaluation Q&A sessions

ERN-RND's 4th Winter School on neuroimaging

ERN eUROGEN launches new exchange programme

ERN ReCONNET: bursaries available for EULAR 2023

Launch of ERKNet's third postgraduate curriculum class

ERN-RND joint webinars 2023

TransplantChild: Upcoming webinars

GUARD-Heart webinar recording available

ERN-RITA: Tuesday lunch with RITA webinar

ERNICA holds first research collaboration webinar

ERN-ITHACA: calls for collaboration

New video from RDI: What is a rare disease?

Xcelerate RARE: RARE-X's new open data challenge

Scotland publishes first Rare Disease Action Plan

IORD introduces pilot program to count rare disease patients in India

IRDiRC launches the Call for Members for the four new Task Forces of the 2023 Roadmap

New guidance on orphan applications

New EMA fees adopted

Creating a cross-border hub to develop Artificial Intelligence techniques in rare haematological diseases

Together4RD policy asks launch: event report now available

Ireland adds Severe Combined Immunodeficiency to National Newborn Bloodspot Screening programme

A Belgian case study for the use of early access and alternative financing to improve access to orphan drugs

Preferences for funding orphan drugs among the Chinese general public

Regulatory variables affecting pricing and reimbursement decisions for orphan drugs in Spain

CHMP: Three new positive opinions on Market Authorisation granted in December 2022

COMP: Twelve new positive opinions for orphan designation accorded in December 2022

Five new Market Authorisations granted in December 2022 by FDA

Thirty-six new orphan designations approved in December 2022 by the FDA

Access to clinical genetic health services among Indigenous people in Australia

Changes to in-person and remote care activities for rare disease patients in France during COVID-19

A systematic scoping review of efforts to improve orphan drug accessibility

What the ciliopathies reveal about the challenges for next generation sequencing-based carrier screening

Lessons learned from a clinical trial in alkaptonuria

Creation of an international database for MECP2 duplication syndrome

The power of federated learning for multi-site collaboration

Credits

OrphaNews, The Newsletter for the Rare Diseases Community.
The production of OrphaNews is realised with the support of Fondation IPSEN, under the aegis of 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, Hélène Dollfus, Alexis Arzimanoglou, Holm Graessner, Henri Jautrou,Julie Bruyere-Zrelli

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)


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