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Summary of Edition of 29 March 2021

Rare Digital Disease Day 2021 : Key Highlights

The Rare 2030 Recommendations – Steering the Rare Disease community towards a brighter future

Orphanet Report Series : Expert reviewers for Orphanet in 2020

ERN : European Reference Networks: challenges and opportunities

ERN : Rare communicable diseases and the EURaDMoG feasibility study

ERN : Continuing rare cancers collaboration with European Reference Networks after Brexit

ERN-Eurobloodnet : A new publication on advances in prenatal diagnosis of monogenic diseases with coelocentesis

ERN eUROGEN : Clinical Exchange Programme 2021-2022 launched

ERN eUROGEN : A new publication providing clinical overview of ERN eUROGEN

ERN Transplantchild : Exchange Programme 2021-2022 launched

ERN RARE-LIVER : Upcoming educational webinars 

ERN RARE-LIVER : A new publication on COVID-19 in patients with autoimmune liver diseases 

ERN RARE-LIVER : SARS-CoV2 vaccines and other vaccinations for patients with rare liver diseases available in 12

ERN RARE-LIVER : A new publication on hepatobiliary phenotypes of adults with alpha-1 antitrypsin deficiency 

ERN-RND : Rare Disease Day 2021 webinar available

ERN-RND : Statement on COVID-19 vaccination 

ERN-RND : New leaflet for patients on Muscle tightness & stiffness – “spasticity” in ataxia

VASCERN : Rare Disease Day Videos

VASCERN : VASCA WG CPMS case discussions continue

Joint Action Towards the European Health Data Space : TEHDAS

EU4Health Programme : More than €5 billion earmarked for 2021-2027

RDI : Rare Diseases International Call for a UN Resolution on Rare Diseases

The European Rare disease research Coordination and support Action Consortium (ERICA) is starting its work in March 2021

EJP-RD : Policy Meeting key highlights

Results of the H-Care survey pilot published in 22 languages

Northern Ireland : Improvements needed to support people living and working with a rare disease

Asia Pacific : A thematic study: impact of COVID-19 pandemic on rare disease organisations and patients across ten

United States : NORD and MedicAlert Foundation team up to protect and empower the rare disease community

Cost-effectiveness of first-line vs third-line ibrutinib in patients with untreated chronic lymphocytic leukemia

A decade of marketing authorisation applications of anticancer drugs in the European Union : An analysis of procedural

Current state of developing advanced therapies for rare diseases in the European Union

Orphan drugs in the United States : Rare diseases innovation and cost trends through 2019

Committee for Orphan Medicinal Products meeting report on the review of applications for orphan designation January 2021

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

Meeting highlights from the Committee for Medicinal Products for Human Use - January 2021

Meeting highlights from the Committee for Medicinal Products for Human Use - February 2021

New European marketing authorisation (MA) with orphan designation

New European marketing authorisation (MA) without orphan designation

Patient preferences in rare diseases: A qualitative study in neuromuscular disorders to inform a quantitative preference

Parenting a child with Marfan syndrome: Distress and everyday problems

Parenting stress in families of children with Prader-Willi syndrome

Coping with Wolf-Hirschhorn syndrome : quality of life and psychosocial features of family carers

Diagnosis of Rare Diseases : a scoping review of clinical decision support systems

The interoperability between the Spanish version of the International Classification of Diseases and ORPHAcodes: towards

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: Claire Bernard
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, Daria Julkowska

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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