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Summary of Edition of 16 March 2022

EU support for Ukrainian rare disease patients

Rare Disease Day 2022 Round up

ERNs and EJP RD Workshop: Translational research on bone impairment in rare diseases

Campaign for authors for the APOGeE textbook

ERN Skin: First World Congress on Rare Skin Diseases

ERN ITHACA: Online registration open for EURODYSMORPHO

ERN ITHACA: Launch of a new website

ERN TransplantChild: New E-learning course available

ERN Eurobloodnet: Round up of SCD Patients’ Educational Session at ASCAT

EpiCARE: Case Discussions agenda 2022

ERN GENTURIS: Webinar on how to identify families with tumour risk syndromes

ERN GENTURIS: Recordings of the 5-year anniversary conference

ECRD 2022: Registration and call for poster abstracts submissions open

RD-CODE: ORPHA codes video available in several languages

A look back on "Rare Diseases: A Global Priority for Equity" from the International Rare Disease Day 2022

ModelMatcher: An online platform to facilitate research collaborations

Australia: Launch of a new Rare Care Centre

Launch of the Rare Barometer Diagnosis Survey

HAS-French UE Presidency symposium on HTA Regulation

EHDS2 Pilot: A European Consortium Pilot project, candidate for the future European Health Data Space

European Commission publishes new studies on cross-border health

Exploring US insurance claims data for myotonic dystrophy from 2012 to 2019

Committee for Orphan Medicinal Products: Positive opinions for orphan designation

CHMP grants market authorisation for 1 medicine

24 indications granted an orphan designation by the FDA

The ExPaParM study: A research protocol to evaluate cystic fibrosis care pathway in France

The TENALYS study: Transition from child to adult health care for lysosomal storage diseases

Launch of the Screen4Care project

Perspective of patients and families on congenital hyperinsulinism in infancy and childhood

The PICTURE study: Impact of progressive familial intrahepatic cholestasis on caregivers

The European Metachromatic Leukodystrophy initiative: The MLDi registry

RDCA-DAP: Best practices and recommendations for FAIR data

Launch of the FAIR-Checker

The DECIPHER platform: Sharing rare disease phenotype-linked variant data for research

Is it possible to implement a rare disease case-finding tool in primary care?

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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