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Summary of Edition of 01 October 2019

First EJP RD General Assembly 

Improving the quality of European Reference Networks for rare diseases

Establishing the technology, policy, and procedures for a scalable genomic research network

China: Evaluation of healthcare service and health security of rare diseases patients

South Korea: Algorithms for the diagnosis of inflammatory bowel disease

Japan: Arguing against the depiction of Japan as an “HTA-underdeveloped country”

Stella Kiriakides nominated European Commissioner for Health 

New genetic description of Scottish populations with potential implications for rare diseases

Burden of illness in patients affected by phenylketonuria

Cost of illness of Wolfram syndrome evaluation

Estimating the cost of Haemophilia A in Portugal

Major expenditures burden on families with rare diseases in Brazil

Key role of institutions for standardisation of product development

Importance of pharmaceutical compounding for patients' access to treatment for rare diseases

Challenges and factors influencing the expansion of newborn screening programmes

Evaluation of the quality of life of children and parents of children with achondroplasia

Health-related quality of life of Chinese patients with hereditary angioedema

Psychological quality of life of patients with aneurysms-osteoarthritis syndrome

Factors associated with the quality of life in people with systemic sclerosis

Engagement in leisure activities of people affected by pemphigus

Impact of autonomic dysfunction on quality of life of patients with hereditary transthyretin amyloidosis

Importance of children reports for health-related quality of life

Disease activity patient reported measure via mobile phone app

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: Claire Bernard
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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