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Summary of Edition of 18 March 2024

Looking back on Rare Disease Day 2024

eUROGEN launches book for Rare Disease Day

ERN-EYE: Serious Game teaches best practices

Endo-ERN: New registry module on gender incongruence

ERN-ITHACA: Submit your abstract for EuroDysmorpho 2024!

ERN-EuroBloodNet: New Knowledge Pill videos

Rare Disease Platform welcomes French Minister of Health for Rare Disease Day 2024

RDI launches Mapping Rare website

Canada takes steps towards improving rare disease care

UK: Department of Health and Social Care releases England Rare Diseases Action Plan 2024

USA announces new AI-driven project to accelerate RD treatment development

EURORDIS launches #ActRare2024 campaign

New EJP RD Funded Projects Dashboard

Sweden to prepare national rare disease strategy

New European Commission fact sheet on rare diseases

Improving access to gene therapy in LMICs: The hub and spoke model

Towards collaborative approaches to medical device development

EMA: Two positive opinions on market authorisation with an orphan designation in February 2024

EMA: Fourteen new positive opinions for orphan designation accorded by the COMP in February 2024

FDA: Six new market authorisations granted in February 2024

FDA: 41 new orphan designations approved in February 2024

Children living with a rare disease and their caregivers: Experiences of the diagnostic odyssey

Factors affecting patient experience in the UK

Genetic diagnosis of rare intellectual disability and parental mental health

iSTORE: improving statistical methodologies for rare disease clinical trials

Mapping the European registry landscape for rare bone and mineral conditions

Current usage of AI in rare disease treatment

GPAD: a novel tool for extracting gene-disease association information from OMIM

Methods for estimating rare disease prevalence

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, 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.