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Summary of Edition of 03 August 2020

Rare2030: Young citizens shaping the future of policy

ERKNet: Consensus recommendation on congenital nephrotic syndrome

ERN-BOND: Launch of the EuRR-Bone project

EuroBloodNet : 1st meeting on Cutaneous Lympoma using the Clinical Patient Management System

Endo-ERN: Genetic testing in inherited endocrine disorders

ERN-Lung : Experts find first evidence-based treatment for Primary Ciliary Dyskinesia

ERK-Skin : Expert’ recommendations to manage epidermolysis bullosa

ERN-Skin : Recommendations on Covid-19 and rare skin diseases updated

A better vision of appraisal processes of treatments for rare diseases across countries: emerging findings from

Russia joins the Orphanet consortium

The need for a comprehensive regulatory framework for rare diseases in India

A parliamentary petition for rare diseases in New Zealand

Australian rare diseases patients’ struggle in the coronavirus health crisis

EJP-RD : Tool for the FAIRification of patient registries

FDA register to collect information from rare disease community

North American healthcare organisations’s Medical Genome Initiative

Rare diseases in mediaeval Europe

Chan Zuckerberg Initiative grant awarded to EURORDIS and NORD

EUnetHTA launched its Covid-19 repository

New Share4Rare registry for rare disease patients with Covid-19 or SARS

Orphan drugs, cost-effectiveness modelling and value assessments

Orphan drugs confidential discounts in Italy from 2016 to 2019

Patient-centricity in clinical research for rare diseases

Challenges in orphan drug access in India and developing countries

A Discrete Choice Experiment on rare diseases applied to social value for decision-making in Europe

EMA scientific advice free for orphan medicines

TRUST4RD : A tool to reduce uncertainties in developing orphan drugs

Heter-LP drug repositioning method applied to Adrenocortical carcinoma

Access and use of different sources of information by rare diseases patients and relatives

A Drug Database for Inborn Errors of Metabolism

A scoping review for machine learning in rare diseases

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: Josiane Kijigo
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, Irene Mathijssen, Daria Julkowska, Franz Schaefer, Ivana Cattaneo

ADVISORY EDITORIAL BOARD
Orphanet Partner Country Representatives: Romi Armando (Argentina), Kristine Hovhannesyan (Armenia), Till Voigtlander (Austria), Elfriede Swinnen (Belgium), Rumen Stefanov (Bulgaria), Micheil Innes (Canada), Ingeborg Barisic (Croatia), Marios Antoniades (Cyprus), Milan Macek (Czech Republic), John Oestergaard (Denmark), Vallo Tillmann (Estonia), Helena Kääriäinen (Finland), Susanne Morlot (Germany), Helen Michelakakis (Greece), Eileen Treacy (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Atsuhiko Kawamoto (Japan), Ieva Malniece (Latvia), André Mégarbane (Lebanon), Birute Tumiene (Lithuania), Dijana PlaseskaKaranfilska (North Macedonia), Neville Calleja (Malta) Abdelaziz Sefiani (Morocco), Wendy va Zelst-Stam (Netherlands), Stein Are Aksnes (Norway), Krystyna Chrzanowska (Poland), Cristina Rusu (Romania), Sergey Kutsev (Russia), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Luca Lovrecic (Slovenia), Gabriela Hrčková (Slovakia), Francesc Palau (Spain), Rula Zain (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H’mida-Ben Brahim (Tunisia), Ugur Ozbek (Turkey), 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.

Photo credit: Serimedis (unless otherwise stated)