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Summary of Edition of 21 January 2021

Rare Digital Disease Day 2021 : Online but together !

ERNs and Brexit

ERN: Launch of an exchange Programme for healthcare professionals in European Reference Networks

ERN ReCONNET : RarERN Path, a methodology towards the optimisation of patients’ care pathways

EuroBloodNet : Webinar available on Cutaneous Lymphoma

ERN CRANIO : Guideline on craniofacial microsomia

ERN EpiCARE : Clinical practice for selected rare epilepsies survey results

ERN-EYE: Launch of the "Rare Eye' Com" app

ERN-EYE : A new website dedicated to the REDgistry is available

ERN-LUNG : COVID-19 in pulmonary hypertension patients survey results

ERKNet : COVID-19 in children treated with immunosuppressive medication for kidney diseases

ERN-RND : "How to Improve Access to Care for Huntington Families" meeting recording is available

ERN-RND : The webinar "Improving care for rare disease patients in Europe – Rare Disease Day" will take place on Tuesday

ERN Rare Liver : Survey on Covid-19 in patients with autoimmune liver diseases (AIH, PBC, and PSC) launched

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

ERN RARE-LIVER : The lay summary of the ERN RARE-LIVER Position Paper : Second-line and Third-line Therapy for

ERN-SKIN : 4 patients journeys are available

ERNICA : "CAN EAT—Care and Nutrition in Esophageal Atresia" video available

VASCERN : New Pills of Knowledge (PoK) videos are available

IRDiRC has published a new article about barriers and considerations for diagnosing rare diseases in Indigenous

United States : NORD applauds bipartisan progress to protect millions of rare disease patients from unexcepted and

United States : NORD publishes COVID-19 community follow-up survey report

United States : NORD highlights new era of innovation and public health awareness in virtual 2020 Rare Diseases and

United States : NORD drives rare disease progress through patient-powered data with IAMRARE™ registry members

Canada : The Patented Medicine Prices Review Board (PMPRB)’s new guidelines will take effect in 2021

EURORDIS Recommendations to achieve a mature ERN system by 2030

EURORDIS Newborn Screening Position Paper

EJP-RD information/networking event for the Internal call for innovation projects in clinical trials methodologies in

EJP-RD : Information Webinar for the Joint Transnational Call 2021

United Kingdom : Publication of the new UK Rare Diseases Framework

Republic of Ireland and Northern Ireland : Evaluating the impact of COVID-19 on rare disease support groups

Germany : German-language websites containing information about rare diseases lack quality indicators

ISPOR Conference : A number of abstracts highlight health economics studies on rare diseases

ISPOR Conference : A number of abstracts highlight studies on orphan drugs

Uncertainty tolerance among experts involved in drug reimbursement recommendations : Qualitative evidence from HTA

ISPOR Conference : vignettes for a rare disease to evaluate the impact on health-related quality of life

Machine learning, artificial intelligence, and data science breaking into drug design and neglected 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: 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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Photo credit : Serimedis (unless otherwise stated)