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Summary of Edition of 27 June 2019

The European Court of Auditors releases a report on the implementation of the Cross-Border Healthcare Directive

Rare 2030: Panels of experts start to imagine future trends in rare diseases

India: Contributions of rare disease patient groups

USA: Your DNA and Cure for Rare Disease partnership for spreading information on genomic technological advances for rare

Chan Zuckerberg Foundation’s announcement of a new rare disease specific programme

State-of-the-art of rare immune disorders disease registries in Europe 

Genetic Alliance launches a petition calling for the United Kingdom continued support and involvement in ERNs

Features of legitimacy of healthcare coverage decision-making processes

RADIOS: an automated economic assessment of newborn screening for rare diseases

Patient reported outcome data and orphan drug labels

Comparison of European and United States orphan drug policies and regulations

Special report on paediatric oncology drugs

PEDIA: image analysis by deep-learning algorithms

Genome sequencing: An appraisal

Mobile application for Huntington’s disease diagnosis

Artificial intelligence to identify rare disease aetiology and improve diagnosis

Artificial intelligence for drug discovery

Automated phenotyping and interpretation of rapid whole-genome sequencing

Ontology mapping 

Next generation sequencing: promising innovations

Trends in prenatal screening

Revision of Airlie House amyotrophic lateral sclerosis Clinical Trials Consensus Guidelines

Investigating the factors leading to a decrease in oral health-related quality of life 

Credits

OrphaNews, The Newsletter for the Rare Diseases Community.
OrphaNews is supported by the European Commission through the pilot projet 'Rare 2030 - a participatory foresight study policy-making rare diseases' (PP-1-2-2018-Rare 2030).
Editor-in-chief: Ana Rath
Associate Editor: Charlotte Rodwell
Editor: Florent Simon
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)