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Summary of Edition of 15 September 2023

Engaging companies in rare disease research: New findings from the IRDiRC Chrysalis Task Force

EuroBloodNet: The role of collaboration in combating sickle cell disease in the EU

TransplantChild: Next steps for standardising vaccination protocols after transplantation

EuroBloodNet: New webinar program with GenoMed4All

MetabERN: Launch of the Diagnostic, Clinical and Therapeutic Education Programme

VASCERN: New e-learning course

VASCERN & TransplantChild: New informational videos

The START checklist for orphan drug development: Findings from IRDiRC's Orphan Drug Development Guidebook

Rare Voices Australia: Recommendations for a national approach to rare disease data

Brazil: Access to medicines before and after the Brazilian Policy on the Comprehensive Care of People with Rare Diseases

NORD: Call for applications to develop registries

Implementing ORPHAcodes in routine disease monitoring: Results from the RD-CODE project

Conclusion of the joint action Towards a European Health Data Space: Final recommendations delivered to European

Heterogeneity in requirements for linking health data in 14 European countries

ERICA & EJP RD Joint Conference: Registration open!

Take the EURORDIS Access Campaign Questionnaire

Incorporating non-health benefits into economic evaluations: Evidence from a study on genomic testing in Australia

Orphan drug policy in China from 2012-2022: Lessons learned and next steps

Primary health care and rare diseases: A review of the evidence

September is Newborn Screening Awareness Month

Weighing the pros and cons of genome sequencing for newborn screening

Raising a child with a rare disease: Parental quality of life and family functioning

Incorporating composite endpoints into rare disease clinical trials

A beginner's guide to registries for rare diseases

Towards a new classification system for inherited retinal diseases

PhenoScore: A new phenotypic framework for predicting rare diagnoses

Online search queries: A new way of monitoring rare diseases?

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)