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Summary of Edition of 25 February 2021

Rare Disease Day 2021 : EURORDIS Black Pearl Awards 2021

Spotlight: Rare 2030 Final Policy Conference

Orphanet Report Series : List of rare diseases and synonyms in alphabetical order

Orphanet Report Series : Prevalence, incidence or number of published cases

ERN : Recommendations on both priorities and contra-indications for vaccination

Endo-ERN : A new webinar about molecular diagnostic testing of imprinting disorders and related growth disturbances

ERNKet : Management of congenital nephrotic syndrome - Consensus recommendations of the ERKNet-ESPN Working Group

ERKNet : Diagnosis and management of Bartter syndrome - Consensus recommendations from the ERKNet Working Group for

ERKNet : Launch of Postgraduate Curriculum in rare kidney diseases

ERN EpiCARE : COVID-19 vaccines and people with epilepsy

ERN ITHACA : Call for collaboration on developmental disorders - Consortium for treating Kosaki syndrome

ENR-RND : Educational webinars on rare neurological and neuromuscular diseases

ERN TRANSPLANT-CHILD : The webinar from the CPG WG meeting about Recommendations on transition and transfer in

VASCERN statements concerning SARS-CoV-2 vaccination

VASCERN : New HTAD collaborative publication on pregnancy outcomes in thoracic aortic disease

VASCERN : A new page about Pregnancy and Family Planning Working Group available on the website

NORD partners with Frontline Medical Communications on publications in oncology and rheumatology

Western Australia Department of Health Stakeholder Consultation Focus Groups

European Commission : Joint Action Towards European Health Data Space

European Commision : Data Governance Act - Consultation on the European strategy for data

European Commission : Evaluation of the Cross-Border Healthcare Directive

Council of Europe initiative on children rights participation in biomedical field

RD-Code : Existing experiences and Guidelines about the coding of undiagnosed rare diseases patients available

RD-Code : Orphanet data Visualisation tool available

New report highlights socio-economic impacts of IMI projects

Medics 4 Rare Diseases : Launch of the new online interactive education module "Rare Disease 101"

IMI Scientific Committee issues opinions on drug repurposing and equitable access

An impact analysis of the implementation of health technology assessment for new treatment of orphan diseases in Japan

Opportunities and barriers for innovation and entrepreneurship in orphan drug development

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

New European marketing authorisation (MA) with orphan designation

New European marketing authorisation (AMM) without orphan designation

Using pre-existing social networks to determine the burden of disease and real-life needs in rare diseases: the example

The relationship between quality of life and coping strategies of children with epidermolysis bullosa and their parents

Machine learning, artificial intelligence, and data science breaking into drug design and neglected diseases

GestaltMatcher : Overcoming the limits of rare disease matching using facial phenotypic descriptors

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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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)