Back

Summary of Edition of 29 September 2023

Next steps for addressing unmet medical need: Leveraging policy to boost ERN-industry collaboration

Yann Le Cam to step down as EURORDIS CEO

ERN RITA: Curating HPO terminology to assist in systemic autoinflammatory disease diagnosis

eUROGEN & ERNICA: Joint study on transitional care for patients with congenital colorectal diseases

ERKNet: Article on childhood nephrotic syndrome published in The Lancet

EuroBloodNet: Complete the global survey for people living with sickle cell disease

ERN-EYE: New video on Usher syndrome

In the era of personalised medicine, what counts as "rare"? Reflections from IRDiRC

Addressing orphan drug loss in Japan to combat unmet medical need

EveryLife Foundation publishes study on the economics of delayed diagnosis in the United States

Career screening around the world: Balancing costs and benefits

EURORDIS responds to plans for the EU Disability Card

TEHDaS draws to a close: final report now available

EUnetHTA21 ceases operations: Towards a permanent collaboration framework

EMA: Open public consultations

The Rule of Prevention framework: using HTA to prevent transmissible rare diseases

Drug repurposing for rare diseases: common quandries for biotech startups

Delayed referrals, delayed diagnoses: the importance of expert centres in shortening the diagnostic odyssey

A collage of experiences: the benefits of arts-based methods in rare disease research

The new world of health informatics and real-world data

Understanding how genetic testing is applied to rare diseases in China

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)