EURORDIS, European Disability Forum, and others call for a more inclusive future for Europeans with disabilties
ReadSummary of Edition of 23 June 2023
Editorial
Political news
International News
RDI statement to WHO 24th Expert Committee on Selection and Use of Essential Medicines
ReadTime-limited recommendations in health technology assessment: Current processes and future directions
ReadHorizontal inequity among rare disease patients in South Korea: The need for stronger financial assistance
ReadUpcoming changes to clinical trial regulation in the UK: What implications for rare diseases?
ReadAlexandra Heumber Perry appointed as CEO of Rare Diseases International
ReadUSA: FNIH announces diseases selected for BGTC clinical trial portfolio
ReadEuropean News
EUnetHTA 21 Consortium to cease operations
ReadLaunch of the European Commission's mental health strategy: EURORDIS responds
ReadMoCA: Reflecting on a decade of multi-stakeholder dialogue towards orphan drug accessibility
ReadAction statement from the Wilson's Disease Policy Network
ReadDecoupling orphan drug status from superiority labels at the EU level to improve patient outcomes
ReadNorway: National Advisory Unit on Rare Disorders unveils website expansion
ReadEURORDIS Rare Barometer survey on newborn screening
ReadHealth Economics
Recommendations for overcoming challenges in cell and gene therapy HTA
ReadOrphan Drugs
Rare, ultra-rare, and common cancer drugs approved by the FDA: A cross-sectional analysis
ReadEMA: One positive opinion on market authorisation with an orphan designation in May 2023
ReadEMA: Twelve new positive opinions for orphan designation accorded by the COMP in May 2023
ReadFDA: Four new market authorisations granted in May 2023
ReadFDA: 32 new orphan designations approved in May 2023
ReadQuality of Care
Rethinking genetic counselling for rare diseases: Evidence from the NHS Ehlers Danlos syndrome service
ReadScreening and Prenatal Diagnosis
Using economic evaluations to make decisions about the content of newborn screening programs in LMIC
ReadStudy Design
Current opportunities and barriers to facilitating patient engagement in research
ReadBioinformatics and Biotechnology
An ontology-rich approach to rare disease identification from clinical notes using ORDO
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)