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Summary of Edition of 25 May 2023

International collaboration and drug repurposing: New recommendations from IRDiRC Task Forces

ERN-RND: Slides and recording from Winter School now available

EuroBloodNet: ENROL webinar recordings now available

TransplantChild: PETER app now available

The Orphanet Newborn Screening Library is live!

Australia: RVA releases 2023 status report on National Action Plan implementation

Egypt: Current status and opportunities in rare diseases

New Zealand: RDNZ report finds a lack of data on rare diseases

IRDiRC nomination call: Diagnostics scientific committee

European mental health week: What significance for rare diseases?

EMA publishes draft guidance on evidence from single-arm clinical trials

Cyprus: Lessons learned from the RARE-e-CONNECT project for collective intelligence tools in rare diseases

Challenges and opportunities for generic orphan drugs

A new structured pathway for transitioning from paediatric to adult care

Protocol for evaluating the effectiveness of patient-centric care models in low and middle-income countries

Using artificial intelligence to identify rare disease patients: An approach using retrospective EHR

PheLR: A new approach to phenotype-driven diagnostic support tools

Visualising biomarker interactions to support inherited metabolic disorder diagnostics

Estimating rare disease incidence using internet search data

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, Hélène Dollfus, Alexis Arzimanoglou, Henri Jautrou, Holm Graessner, 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)
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.

Photo credit : Serimedis (unless otherwise stated)