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Summary of Edition of 29 March 2019

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New Canadian rare disease research platform for precision medicine

USA: NORD launches a new patient assistance program for Lambert-Eaton Myasthenic Syndrome

Australia: $38.6m for clinical trials on rare cancers and diseases

Release of RD Action final report

UK: The Big Sunflower Project

Netherlands: European Medicines Agency officially in Amsterdam

Spain: Event for Rare Disease Day presided by Queen Letizia of Spain

Scotland: Spinraza therapy now available for all in Scotland 

Economic burden of the chronic thromboembolic pulmonary hypertension in Russia

Assessment of US health insurers retention rate of subscribers with pediatric rare disease

Cost-effectiveness evaluation for newborn screening alternatives: the case of biliary atresia

Treatment advances of rare corneal disease

FDA’s and EMA’s approval of non-randomised trials

Suggestions of modifications of the International Working Group response criteria for myelodysplastic syndromes

New disease activity measure for systemic lupus erythematosus

New scale for rating the severity of autoimmune encephalitis 

Machine learning for rare tumours: identifying differences between and within entities

Book chapter on data linkage technology within healthcare service deliveries

Noninvasive prenatal screening results dissemination and genetic counseling election for a large population

New age-based method to evaluate genome-scale sequencing results in newborn screening

Health technology assessment of NIPT

Quality of life assessment of adult patients operated for Hirschsprung disease

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
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

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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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