Back

Summary of Edition of 28 March 2023

Orphanet and EURORDIS honoured with FEDER 2023 awards

ERN-EYE members report on current management of inherited retinal degenerations

MetabERN: Barriers and challenges to conducting individual treatment trials

Launch of new ERN CRANIO videos

VASCERN: New Pill of Knowledge video on genetic counselling

ERN-EYE new GREET meetings on paediatrics

Endo-ERN webinar on genetic diagnosis of azoospermia

ERN GENTURIS webinar on mainstreaming genetic testing

Undiagnosed Diseases Network International: New findings on needs and opportunities for undiagnosed rare diseases

Improving equitable access to rare disease care around the world

Australia: Outcomes of a collaborative partnership to improve integration of genomic services

England publishes second Rare Diseases Action Plan

EUCAPA: New patient capacity-building initiative for HTA participation

RE(ACT) Congress and IRDiRC Conference held in Berlin

Out-of-pocket healthcare spending by Turkish rare disease families

Cost-effectiveness of repositioning paediatric orphan drugs

Direct cost and cost-drivers of systemic lupus erythematosus in China

Neurological orphan drugs: An overview

Accelerating generic orphan drug development for accessible care

Managing waiting times in clinical research for undiagnosed patients

Factors affecting health-related quality of life for parents of children with congenital adrenal hyperplasia

The role of healthcare networks in improving quality of life: Evidence from the French RESRIP pilot

Improving collaboration between specialties to overcome challenges in genomics research

Comparing statistical methods for outcome analysis in rare disease trials

A new mapping tool linking HPO and ICD codes

Automated patient-level data extraction from EHR: Opportunities for health system research

EpiPipeline4RD: A new information extraction pipeline for rare disease epidemiology

Considerations for the use of artificial intelligence techniques in rare disease care and study

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)