New EMA report on real-world evidence to support EU regulatory decision-making
ReadSummary of Edition of 07 July 2023
Editorial
Political news
International News
Strengthening support for rare diseases in India's national child healthcare programme
ReadPublic understanding of rare diseases in Japan
ReadUSA: Learnings from Mayo Clinic's PRaUD program for genomic medicine for rare disease
ReadUSA: Debt ceiling deal protects access to health care, leaves future of rare disease research uncertain
ReadOrphan Drugs
Four decades of orphan designations in the United States
ReadScreening and Prenatal Diagnosis
Mainstreaming genomics for rare disease into paediatrics to fulfil unmet needs: Parent perspectives
ReadQuality of Life
Burden and quality of life: Gender differences among family caregivers
ReadRegistries and Biobanks
TREAT-NMD: Over 15 years of registry-based academic productivity
ReadData Management
Frequency-based rare diagnoses: A new approach for identifying rare diseases in large datasets
ReadBioinformatics and Biotechnology
Presenting SUsPECT: A pipeline for predicting variant effects based on long-read transcripts
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)