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Summary of Edition of 07 July 2023

New EMA report on real-world evidence to support EU regulatory decision-making

EuroBloodNet: World Sickle Cell Day poster

EuroBloodNet: ENROL recommendations for registry interoperability

RARE-LIVER establishes first youth panel

Recap: VASCERN ePAG Spring Meeting

RDK: The new app to support rare disease diagnosis

Submit your nomination for the 2024 Black Pearl Awards!

Strengthening support for rare diseases in India's national child healthcare programme

Public understanding of rare diseases in Japan

USA: Learnings from Mayo Clinic's PRaUD program for genomic medicine for rare disease

USA: Debt ceiling deal protects access to health care, leaves future of rare disease research uncertain

Health priorities of the Spanish Presidency of the EU Council: EURORDIS responds

Now open: 2023 EU4Health calls for action grants

DEADLINE EXTENDED: EURORDIS Rare Barometer survey on Newborn Screening

Calculating the economic burden of Duchenne Muscular Dystrophy in Brazil

National vs regional social protection schemes for people living with rare diseases in China

Four decades of orphan designations in the United States

Pharmacists as initiatiors of palliative care

Understanding clinical practice guideline implementation in rare diseases

Towards an equitable model of rare disease advocacy

Mainstreaming genomics for rare disease into paediatrics to fulfil unmet needs: Parent perspectives

Burden and quality of life: Gender differences among family caregivers

TREAT-NMD: Over 15 years of registry-based academic productivity

Frequency-based rare diagnoses: A new approach for identifying rare diseases in large datasets

Presenting SUsPECT: A pipeline for predicting variant effects based on long-read transcripts

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)