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Summary of Edition of 27 November 2020

State of rare diseases patients’ access to safe and affordable medicines

Remembering Prof. Dr. Gertjan van Ommen (1947 - 2020)

Coronavirus and rare diseases: update

ERKNet: Patient Satisfaction (H-CARE) Survey Results

ERN RITA and Screen4Rare: Call to action for a newborn screening for rare diseases

ERN-EuroBloodNet: European Network of Sickle Cell Disease Patient Organisations

ERN-EURO-NMD: European survey study on genetic testing offer for inherited neuromuscular diseases

ERN VASCERN: 5 new training videos on the use of CPMS

Canada: The diagnostic odyssey of children with rare genetic disorders

Hong Kong, China: Impact of COVID-19 pandemic on patients with rare disease

Switzerland: Asylum-Seeking Children with Medical Complexity and Rare Diseases in a Tertiary Hospital

The Executive Summary of the 10th European Conference on Rare Diseases and Orphan Products published

EURaDMoG: A study on the potential creation of a European Reference Network for rare communicable diseases and other

A French survey on COVID-19 infection in NMO/SD patients

The Italian Undiagnosed Rare Diseases network: Review of 3 years of activity

One orphan drug to treat many diseases to unlock the rare diseases economic trap

The European Orphan Drug Experts Group established

Central and Eastern Europe and health technology assessment and reimbursement policy for oncology orphan drugs

US and Europe: Pivotal trial endpoints of drugs for rare and non-rare cancers

Orphan drug development: Opportunities and barriers for innovation and entrepreneurship

Neonatal and carrier screening for rare diseases and the way innovation challenges screening criteria worldwide

Diagnosis of Rare Diseases and clinical decision support systems

Phenotype-genotype comorbidity analysis of patients with rare disorders and insight on pathological and molecular bases

A preliminary study on phenotypically similar rare disease identification from an integrative knowledge graph for data

Data Analysis and Rare Disease Diagnostics

RaDiOS ontology, an automated generation of decision-tree models for the economic assessment of interventions for rare

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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Photo credit: Serimedis (unless otherwise stated)