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Summary of Edition of 26 June 2020

ECRD2020: Looking Back to the Future

Rare2030: Knowledge Base Factsheets and Policy Scenarios available

ERN ERKNet: Survey on children with kidney disease diagnosed with Covid-19

ERN RITA: Survey on the consequences of COVID-19 on individuals with primary immunodeficiencies

TransplantChild ERN: Survey on impact of COVID-19

Endo-ERN: Initiative to collect data on patients with rare endocrine conditions and COVID-19

ERN-LUNG: Citizen Science 2.0, an innovative research approach

ERN-ERNICA: Unique methodology describes challenges faced by esophageal atresia patients

ERN RARE-LIVER: Survey on quality of life and issues of patients with autoimmune liver diseases

ERN CRANIO: First guideline on craniofacial microsomia

ERN-RND: Survey on management of rare movement disorders

Orphanet Report : Expert Reviewers 2019

Springer nature, the first large publisher to sign DORA

Launch of the Gene Curation Coalition website

Rare cancers in India, a completely forgotten medical area

Rare Genetic Diseases in two Indian low-resource regions, Jammu and Kashmir

The use of real-world data in rare disease medicines through health technology in Canada and the UK

Western Australia’s rare disease policy framework and Undiagnosed Diseases Program

James Lind Alliance Priority Setting Partnerships on rare musculoskeletal diseases in adults

Multi-omic analyses of rare diseases research

Rare disease centres formally designated in Switzerland

Challenges and propositions to improve patient access to advanced therapeutic medicinal products in Austria

European Commission to invest 9.3€ billion in the new EU4Health programme

Italian actors involved in the ERNs hold first meeting for better coordination and integration of the networks in

Nominations for 2021 EURORDIS Black Pearl Awards are now open

Participate in an online stakeholder survey on the use and reuse of health data

European Brain Council’s two-year study on coordinated care for rare neurological diseases patients

Ithanet, EuroBloodNet’s portal for clinicians and researchers working on haemoglobinopathies

Rare diseases and coronavirus pandemic in Poland

Pediatric Orphan Drug Classification from 2010 to 2018

Public spending for orphan drugs in western countries and implementation of health technology assessment principles

Committee for Orphan Medicinal Products meeting report on the review of applications for orphan designation March 2020

Committee for Orphan Medicinal Products meeting report on the review of applications for orphan designation April 2020

Meeting highlights from the Committee for Medicinal Products for Human Use 23-26-03 March 2020

Meeting highlights from the Committee for Medicinal Products for Human Use CHMP) 28-30 April 2020

Successful German national newborn screening for Severe Combined Immunodeficiencies

Joint Call to Action for Newborn Screening for Rare Diseases

Clinical trial-on-chips impact on rare diseases

Rare diseases studies using simulations and matching methods

A United States Clinical Trial Readiness Program on Spinal muscular atrophy

Challenges for children with rare diseases in the education system

Parents' experience of caring for children with rare neurodevelopmental disorders

Lived experiences and well-being of adults with SMA

PRIORI-T: phenotype-driven gene prioritization for rare disease

Deep learning algorithm in rare diseases

LipoDDx mobile application for rare lipodystrophy syndromes diagnosis

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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