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Summary of Edition of 28 April 2022

Draft proposal for a European Partnership on Rare Diseases under Horizon Europe

Orphanet and ERN ITHACA partnership: New OrphaID Platform

ERN EpiCARE: MoU signed with the EAN and the EPNS

ERN EpiCARE: Webinars on rare and complex epilepsies

ERN-EYE: Grand Rounds ERN-EYE Transnational Meeting (GREET)

ERN TransplantChild: New study published in the Children journal

ERN EurobloodNet: HÄMATOLOGIE HEUTE symposium

ERN GENTURIS: Schwannomatosis guideline published

ERN ReCONNET: Webinar on Sjögren’s syndrome

ECRD 2022: Registration open

Global Survey on Rare Disease Diagnosis

New European member joins the Bespoke Gene Therapy Consortium

United Kingdom: Increased COVID-19 mortality rate in rare disease patients

EURORDIS report on the High-level Ministerial Conference on Rare Diseases

New Multiple Framework Contract to perform evaluations of European Reference Networks and Healthcare Providers

Is cost-effectiveness analysis fit for the assessment of orphan drugs’ cost and reimbursement?

The use of dose-finding studies in drug development processes for rare genetic diseases in the US

Rare diseases knowledge and awareness among medical students and physicians in the Republic of Kazakhstan

Needs and challenges in children with rare diseases in the Netherlands

Global impact of COVID-19 on newborn screening programmes

The disease burden of Classic Galactosemia and challenges with daily living

The economic and social burden of haemophilia on children in Europe

Experience of women on the Irish National Gestational Trophoblastic Disease Registry

GenRisk: A tool for comprehensive genetic risk modelling

Epidemiological study of rare diseases in Japan

Credits

OrphaNews, The Newsletter for the Rare Diseases Community.
The production of OrphaNews is realised with the support of Fondation IPSEN, under the aegis of Fondation de France.
Editor-in-chief: Ana Rath
Associate Editor: Charlotte Rodwell
Editor: Nour Zargouni
Editor for Scientific Content: Henri Jautrou
Scientific monitoring: Hélène Jagline
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Editorial Board: Victoria Hedley, Yann Le Cam, Charlotte Rodwell, Anna Bucsics, Franz Schaefer, Ivana Cattaneo, Daria Julkowska, Irene Mathijssen, Hélène Dollfus, Alexis Arzimanoglou, Henri Jautrou

ADVISORY EDITORIAL BOARD
Orphanet Partner Country Representatives: Romi Armando (Argentina), Tamara Sarkisan (Armenia),  Till Voigtlander (Austria), Elfriede Swinnen (Belgium), Rumen Stefanov (Bulgaria), Micheil Innes (Canada), 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), Ieva Malniece (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), Gabriela Hrčková (Slovakia), Francesc Palau (Spain), Rula Zain (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H’mida-Ben Brahim (Tunisia), Ugur Ozbek (Turkey), Sarah Stevens (UK)
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Photo credit : Serimedis (unless otherwise stated)