ERN Guidelines Programme: Methodological handbooks now available
ReadSummary of Edition of 12 April 2023
Editorial
Political news
International News
Canadian government announces first National Strategy for Drugs for Rare Diseases
ReadEuropean News
OD Expert Group launches policy proposals in European Parliament
ReadEURORDIS' priorities for the revision of the Orphan Medicinal Products Regulation
ReadRecap of the Rare Cancers Europe strategy meeting
ReadDARWIN EU: Completion of first studies and call for new partners
ReadEU4Health stakeholder consultation: Call for responses
ReadNominations for the 2024 EURORDIS Black Pearl Awards are open!
ReadHealth Economics
A new consortium promoting access to gene therapy for ultra-rare diseases
ReadOrphan Drugs
Current and future role of genetics in drug development
ReadQuality of Care
A new index for measuring vulnerability in paediatric cancer care for LMIC
ReadScreening and Prenatal Diagnosis
When is the best time to screen for treatable genetic disorders?
ReadQuality of Life
Q.RARE.LI.: Leveraging psychosocial support to improve quality of life
ReadStudy Design
Patient centricity in clinical trial design: Perspectives on paediatric rare diseases from the ISCTM 2020 Autumn
ReadRegistries and Biobanks
Implementation of a national registry for GLUT1-DS
ReadData Management
Public perspectives on big data collection in South Korea
ReadBioinformatics and Biotechnology
AI for paediatric cancer diagnosis: Current and future applications
ReadEpidemiology
Sources of uncertainty in estimations of rare disease prevalence
ReadScientific news
And also...
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)