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Summary of Edition of 20 March 2019

The European Joint Program on Rare Diseases (EJP-RD) up and running

New collaboration between International Clinical Trials Registry Platform and Orphanet

Student Organisation’s first awareness month

New National Centre for Rare Disease in Qatar with Heidelberg University Hospital

New European Platform to collect rare disease patient data launched

Report from the first Workshop on Ancient Rare Diseases

A new local framework for Huntington disease was launched in the Lothian region

UK strategy for Rare diseases implementation plan for England update

New Oxford-Harrington Rare Disease Centre for therapy development

Bupa Malta awards

Launch of PARTNER project for Paediatric Rare Tumour patients

Novel European Registry Society Clinical Research Collaboration for alpha-1 antitrypsin deficiency

Medical costs of patients with alpha-1 antitrypsin deficiency in the United States

Cost-effectiveness analysis of population genomic screening

Evaluation of the number of admissions and the economic burden of phenylketonuria in Spain

Orphan designation and positive Health Technology Assessment outcomes

Social media data for pharmacovigilance

Collaborating to overcome regulatory obstacles

Orphan drug patient access in France: still incomplete

Development of effective drugs for Mucopolysaccharidosis, Gaucher, Fabry and Pompe disease in Spain.

Uveogene: a database for the detection of genetic factors associated with uveitis

Recommendations for recontacting patients

Clinical trial design for systemic lupus erythematosus

Data fusion and collaborative filtering approaches to assist rare disease diagnosis

New classification of rare arrhythmogenic and conduction disorders, and rare arrhythmias

HPO and Orphanet data enrichment

Call for the adoption of an open notebook approach

Shedding light on the decision “not to know” and not seek for pre-symptomatic testing

Spouses’ experience of living with a partner with a rare disease

Depression and anxiety in patients with rare diseases

Challenges of living with a rare disease

Link found between Health Related Quality of Life surveys and rates of subsequent emergency room department visits and

Zellweger spectrum disorders and the emotional experience of family caregivers

Do repeated surgeries in the case of recurrent respiratory papillomatosis impact patients’ voice outcomes?

Burden of severe mucopolysaccharidosis type I on caregivers

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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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.

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