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Summary of Edition of 12 April 2019

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New abstracts translated in Japanese

Report from ERN-EYE Third General Annual Meeting in Prague

Canada: Proposal for a new Canadian Drug Agency and rare disease funding by Finance Minister

Canada: New clinical centre for adults affected by genetic dyslipidemia

Australia:  Survey on access to services by people with rare diseases

Thailand: The advent of precision medicine and related issues

New global Rare Barometer Voices survey to understand rare disease patients’ experience of treatments now live

Meeting between European Union ministers and secretary of states on support for disability 

European advocacy actions for rare diseases in the light of the coming European elections

Early use of health services by children with medium-chain acyl-CoA dehydrogenase deficiency

Cost-effectiveness analysis of daratumumab versus pomalidomide for the treatment of relapsed or refractory multiple

Availability rates of orphan drugs in European countries

Rare dermatologic diseases neglected in drug development

New data on children in the Welsh Congenital Anomaly Register 

Conclusions from the analysis of a parent-reported Coffin–Siris syndrome registry

Patient and caregiver experience in clinical trial

Genomic and human genome sequencing

Image-driven approach for diagnosis of mixed connective tissue disease in children and adolescents

Development of an ethnic-sensitive bioinformatic pipeline

Extracting rare diseases symptoms from research papers

Probabilistic diagnostic decision support system Ada DX examined

EMIF: Biomedical data web platform to improve knowledge exchange 

USA: Newborn screening for spinal muscular atrophy

Cost-effectiveness analysis of non invasive prenatal testing as contingent testing and as first-line testing

Stress, depressive symptoms and quality of life evaluation for caregivers of OI patients 

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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
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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