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Summary of Edition of 31 May 2019

New report from the Second High Level Event of the NGO Committee for Rare Diseases published 

EURORDIS’ launch of a new position on holistic care 

New European funding call for the development of registries in ERNs

New abstracts translated in Japanese

Fundamental shifts and new trends driving rare disease policy

ELIXIR and Global Alliance for Genomics and Health Strategic Partnership

NHs provides the opportunity for rare disease patients to benefit from psychological therapies

The situation of rare diseases in the Czech Republic and Europe

The potential impact of drug shortages on patients

Impact of price negotiation for new drugs in Italy including orphan drugs

Special Commission on diagnostic established by the Lancet

Analysis of the cost and approval of gene and cellular therapies

Cost evaluation of Charcot-Marie-Tooth neuropathies patients’ needs

USA: NORD sets out a number of drug pricing principles

Orphan drugs reimbursement policies in Central and Eastern European Countries

Post-marketing evidence on orphan drugs data resources accessibility in Italy

Validation of a systemic lupus erythematosus continuous measure

Proposition of revisions of International Working Group hematological response criteria

New scale for rating autoimmune encephalitis’ severity

Strategies for drafting guidelines in rare diseases

Artificial intelligence and facial recognition for the discovery of new genetic disorders

Delivery and management of prenatal screening results disclosure

Parents’ perspective on having a child with Smith-Magenis syndrome

Psychosomatic care  for rare diseases patients 

Rare disease knowledge and awareness among physicians in Belgium

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

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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