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Summary of Edition of 16 October 2023

RDI and partners call on UN Member States to realise UHC for the global rare disease community

OrphaNews wants your opinion!

ERN-CRANIO study yields new guidance for registry development

Former executive member of GENTURIS calls for UK to rejoin ERNs

Apply for the ERN-LUNG Academy 2024

2022 Activity Report & Expert Reviewers ORS available now!

Accessibility of services for neuromuscular disorders in Zambia

Current state of the UK rare disease research landscape

FDA to launch pilot program to accelerate drug development

Rare Disorders New Zealand: Voices of Rare Disorder survey

GBC public consultations on biodata infrastructure and open data strategies

Balancing the need for timely access to medicines with clinical uncertainty at the European level

TEHDaS: Proposals on data quality and utility

France: Towards a fourth National Plan for Rare Diseases

Presenting EURAS: a new project to battle RASopathies

How do HTA processes affect regulatory delay for rare disease medicines in England? Evidence from NICE

Rethinking HTA processes for high-cost technologies

Orphan drug pricing before and after market exclusivity expiry: Evidence from four European countries

Using an integrative profile network to identify candidates for drug repurposing: a case study of glioblastoma

Visualising the pharmacovigilance landscape for rare diseases

The French Reference Centre for Fibrous Dysplasia: Demonstrating the importance of rare disease reference centres

Overcoming challenges of sample size in orphan drug development: An innovative approach to study design

Fighting diagnostic delay in Gaucher disease: Development of an electronic health records-based algorithm

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
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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.