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Summary of Edition of 18 June 2024

ECRD 2024: Towards a more equitable and accessible Europe for all

EURORDIS study sheds light on the diagnostic odyssey in Europe

VASCERN: Recommendations on genetic testing from the VASCA working group

Launch of the 3rd ERN ReCONNET exchange programme

Endo-ERN 2024 General Assembly

RDI calls for a WHA Resolution on Rare Diseases at side event to 77th World Health Assembly

Australia: Rare Care Centre 2023-24 impact report now available

Rare Disease Moonshot Australia: Accelerating therapy development through partnerships

Australia: Launch of the Lyfe Languages Universal Medical Translator

US: NORD appoints Pamela K. Gavin as new CEO

Canada: Nomination call to join CORD's Board of Directors

Canada: Petition for a rare disease strategy in Ontario & launch of the first MPS and PKU patient registries

TREAT-NMD 2022-2023 impact report

Apply to join the EURORDIS Digital & Data Advisory Group

New members appointed to EURORDIS Board of Directors

Third EJP RD MOOC on Health Data Ethics & Regulatory Frameworks

Screen4Care: Recap of the consortium's second in-person meeting

Enhancing rare disease care in Germany: Patient experiences of interprofessional collaboration

HTA criteria for orphan drugs: Differing approaches based on models of public healthcare

EMA: New positive opinions on market authorisation with an orphan designation in April and May 2024

EMA: New positive opinions for orphan designation accorded by the COMP in April and May 2024

FDA: New market authorisations granted in April and May 2024

FDA: New orphan designations approved in April and May 2024

Rethinking educational and therapeutic programs for allogenic transplantation in Poland

Genomic NBS for inherited metabolic disorders: An IRDiRC analysis

Quality of life and economic burden in Fabry disease

Best practices for quality rare disease registries

Project SATURN: Developing a core dataset to improve access to new therapies

New partnership to develop gene therapy technology for Ataxia Charlevoix-Saguenay

Mining electronic health record data to detect undiagnosed genetic disease: A proof-of-concept study

Credits

OrphaNews, The Newsletter for the Rare Diseases Community.
Editor-in-chief: Ana Rath
Associate Editor: Charlotte Rodwell
Editor: Madeline Cuillerier
Contact Us
Editorial Board: Victoria Hedley, Yann Le Cam, Charlotte Rodwell, Anna Bucsics, Ivana Cattaneo, Daria Julkowska, Alexis Arzimanoglou, Henri Jautrou, Holm Graessner, Julie Bruyere-Zrelli, Andrea Osvoll, Stanislav Ostapenko, Valentina Bottarelli, Dave Pearce, Samantha Parker, Alexandra Heumber Perry

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.