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Summary of Edition of 04 December 2018

ERNs in action ! Back from the 4th ERN conference

Rare Disease Day 2019 theme announced

Kick-off meeting of the OrphaNetwork Direct Grant

Update of the Orphanet mobile app

Orphanet has released Spanish translations of its Emergency Guidelines

Orphanet has released Spanish translations of its Disability factsheets

ERN-EYE: An interactive map for clinical trials

ERN-EYE: New brochure

MetabERN: PKU Policy Roundtable final report

ERN ReCONNET: Clinical practice guidelines

ERN-EuroBloodNet: New disease search tool

VASCERN: Do’s and Don’ts factsheets

UN Special Rapporteur calls for support for Rare Disease community in report to UN General Assembly

Australia’s first National Rare Disease Framework

West Australia: Telethon 2018 sets a new record

Australia: Galafold (migalastat) added to the federal government’s Life Saving Drugs Program

China Alliance for Rare Disease holds inaugural meeting

New family guide for Duchenne muscular dystrophy

Public consultation on legislation of medicines for children and rare diseases launched

European Commission launches tender to support development of Clinical Practice Guidelines for ERNs

First formal meeting of the Steering Group on Health Promotion, Disease Prevention and Management of Noncommunicable

Patients call for participation in European cooperation on Health Technology Assessment

The executive summary of the European Conference on Rare Diseases is available

Board of Member States on European Reference Networks (ERNs)

Guidance from the European Medicines Agency (EMA) on medicines used in children

Report on the application of the European Reference Networks model outside of the rare disease field

Mapping health care in rare diseases: The example of epidermolysis bullosa in Germany

Update on conect4children progress

Roundtable with health technology industry to discuss EU digital health agenda

European Commission publishes 10 patient errors in cross-border care

Impact of Brexit on European medicines regulation and access to healthcare

Harmonising phenomics information for a better interoperability in the rare disease field

GA4GH new interoperability standards

AnacletoLab paper among the five best of the year in Medical Informatics

The Italian neuromuscular registry

Five years of NORD’s patient registry success

Genome-wide association studies of brain imaging phenotypes in UK Biobank

The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders

Cost-effectiveness analysis of combination treatment for cystic fibrosis patients in the US

Australia: Newborns to be tested for spinal muscular atrophy (SMA)

Effect of genetic diagnosis on patient with previously undiagnosed disease

New "ultra-orphan" approach for medicines in Scotland

Drug development in pediatric oncology: Challenges and opportunities: reflections from European regulators

Credits

OrphaNews, The Newsletter for the Rare Diseases Community.
OrphaNews is supported by the French Muscular Dystrophy Association (AFM).
Editor-in-chief: Ana Rath
Associate Editor: Charlotte Rodwell
Editor: Agathe Franck
Editor for Scientific Content: Agathe Franck
Scientific monitoring: Hélène Jagline
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Editorial Board: Victoria Hedley, Yann Le Cam, Charlotte Rodwell, Anna Bucsics, Franz Schaefer, Ivana Cattaneo

ADVISORY EDITORIAL BOARD
Orphanet Partner Country Representatives: Romi Armando (Argentina), Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Micheil Innes (Canada), Ingeborg Barisic (Croatia), Marios Antoniades (Chyprus), Milan Macek (Czech Republic), Vallo Tillmann (Estonia), Helena Kääriäinen (Finland), Susanne Morlot (Germany), Eileen Treacy (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Atsuhiko Kawamoto (Japan), Ieva Malniece (Latvia), Birute Tumiene (Lithuania), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Krystyna Chrzanowska (Poland), Mario Carreira (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Luca Lovrecic (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H’mida-Ben Brahim (Tunisia), Sarah Stevens (UK)
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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 the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.

Photo credit : Serimedis (unless otherwise stated)