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Summary of Edition of 28 February 2023

Today is Rare Disease Day 2023!

Black Pearl Awards 2023: Recognising the community

Rare Disease Week 2023: Advocates call for a patient-driven approach in the evolution of the Orphan Medicinal Products

ERN GUARD-Heart: New podcast series

ERN ReCONNET First International Congress on rare and low-prevalence connective tissue and musculoskeletal diseases

ERNICA research collaboration webinar on Quality of Life

TransplantChild webinar: "Vaccination after pediatric kidney transplantation"

ERN-RND and EURO-NMD webniar: Towards precision medicine in NBIA

ERN-RITA webinar: How do I treat ANCA-Associated Vasculitis?

EURO-NMD: 5th Neuromuscular Translational Summer School

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Training on Orphanet nomenclature held in Istanbul

Launch of a new cross-border Irish rare disease research network

NORD's annual State Report Card reveals progress and challenges for US rare disease community

United States: IVI and EveryLife Foundation announce new initiative on patient-centred outcomes for rare diseases

EMA Big Data Steering Group 2022 report now available

burden-eu: Assessing the social and economic burden of rare diseases

Publication of the closing report of the EMA-EC action plan on paediatrics

Economic aspects of rare diseases and their impact on equitable access to care

New OMP reimbursement pathway in Czechia based on ORPH-VAL recommendations

Recent trends in FDA orphan drug approvals

The future of medical genetics: Opportunities presented by therapeutics for rare diseases

Management of rare movement disorders around the world: Results from an exploratory survey

Understanding diagnositc delay in idiopathic inflammatory myopathies

Using driving time to identify gaps in rare disease care coverage

Experiences at a Brazilian referral centre for systemic amyloidosis

Gene-targeted therapies for rare diseases: How to achieve equitable access

Utility of clinically-focused exome sequencing for diagnosis of monogenic disorders

The ethics of prenatal diagnosis

Prenatal genetics: Current practice and future directions

New machine learning model improves detection of rare disease patients

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: 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, Holm Graessner, Henri Jautrou,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)


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Photo credit : Serimedis (unless otherwise stated)