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Summary of Edition of 13 August 2019

Advocacy: rare diseases mentioned within the framework of Universal Health Coverage at UN

ERN RARE-LIVER position statement publication

USA: New FDA paper on the Office of Orphan Products Development 

Exscientia and Rallybio’s joint venture to accelerate drug development for rare diseases

Educational initiatives: EURORDIS’ winter school for patient empowerment and platform

EU Commission reminder of the steps to follow by marketing authorisation holders regarding UK withdrawal from the EU

Serbia: Challenges, needs of patients in Serbia and the necessity of the adoption of a national strategy for rare

Economic and clinical burden of cardiac amyloid light-chain amyloidosis in the United States 

The role of small molecule development and links made with common disease as a means to maintain the sustainability of

Catalonia: reflective multicriteria decision analysis methodology as a tool to support the decision-making process for

Drug repurposing

TGstools: a new device for facilitating routine tasks

RD-RAP: For an analytics-centric approach applied to registries

Data and information collection through large-scale analysis of the Castleman Disease Collaborative Network
 

Facilitating  and spreading the use of registries

Slovenia: developing and improving a rare disease ecosystem including a rare disease registry

UK: Trends in prenatal diagnosis and preimplantation diagnosis for Huntington disease

Ethical and practical considerations, challenges and guidance for sponsoring patient relocation to clinical trial

Patient prioritisation regarding participation in early-phase gene therapy trials for Duchenne muscular dystrophy

Analysis of social characteristics, education, and work-related activities of Wilson disease Polish patients

New strategies for quality of life measurement

Caregiver burden associated with Sanfilippo syndrome type B
 

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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