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Summary of Edition of 09 May 2021

Adoption of the EC’s Strategy for the rights of persons with disabilities 2021-2030

Rare Diseases International : WHO Collaborative Global Network for Rare Diseases (CGN4RD)

ERN EuroBloodNet : Newborn screening for sickle cell disease in Belgium

ERN EuroBloodNet : Thrombotic microangiopathies webinars received official CME accreditation

ERN eUROGEN : New article published about cinical overview of ERN eUROGEN

ERN-EYE : New position statement on genomic testing in rare eye diseases

ERN-EYE : Replay of the webinar on "Papilloedema & COVID vaccination" available

ERN GENTURIS : Supporting partner collaboration agreements with 5 UK clinical experts

ERN ITHACA : Call for Collaboration on the correlation between intellectual disability and cutaneous skin mosaicism

ERN ITHACA : Call for collaboration on TRIP12-associated neurodevelopmental disorder

ERN RARE-LIVER : New patient information leaflet on progressive familial intrahepatic cholestasis

ERN-RND : New webinar "Better Conversations - Communication partner training for language led dementias"

ERN-RND : Survey on educational needs in in Rare Neurological Diseases

ERN-RND : New publication on research priorities for rare neurological diseases: a representative view of patient

ERN-Skin : Key achievements in 2020 online

VASCERN : Recording of the webinar on Infections and lymphedema now available

European Health and Digital Executive Agency to operate as from 1st April

EJP-RD : Online course on diagnosing rare diseases from the clinic to research and back

European Medicine Agency : Call for expression of interest - Data Standards Strategy survey and workshop

RDCA-DAP webinar series on the value of integrated data and analytics in rare disease drug development

VISION-DMD White Paper on returning individual clinical trial results back to patients

Launch of a global collaborative social network, Share4Rare, to promote citizen science in rare disease research

Survey on patient organisations' knowledge and position paper on screening for inherited neuromuscular diseases in

Position statement from EuroSoftCalc.Net group on the role of patient associations in connective tissue calcifiying

IMI Scientific Committee experts: How Europe can get better at treating rare diseases

European Alliance for Newborn Screening for Spinal Muscular Atrophy : New whitepaper on "Spinal muscular atrophy, screen

Germany: Supportive care needs of patients with rare chronic diseases

United Kingdom: Experience of health care at a reference centre as reported by patients and parents of children with

United Kingdom: An exploratory qualitative interview study on the impact of care coordination on patients and carers

Canada : Stakeholder perspectives on clinical research related to therapies for rare diseases

United States : Clinical sites of the Undiagnosed Diseases Network contributions to genomic medicine and science

Value-based decision-making for orphan drugs with multiple criteria decision analysis

Systematic literature review of the economic burden of spinal muscular atrophy and economic evaluations of treatments

Medical database analysis of Japanese multiple myeloma patients with planned stem cell transplantation

Small cell lung cancer : A slightly less orphan disease after immunotherapy

Orphan drug designation and development in Japan : 25 years of experience and assessment

The market expansion of eculizumab

Analysis of patient access to orphan drugs in Turkey

First oral treatment for spinal muscular atrophy (SMA) recommended for approval

Precautionary marketing suspension of thalassaemia medicine Zynteglo

Results of a patient reported experience measure evaluating the rare disease patients and caregivers experience

Patient and family experience with transthyretin amyloid cardiomyopathy and polyneuropathy amyloidosis

Disease monitoring programs of rare genetic diseases

The Broad Institute of MIT and Harvard has launched a major initiative to support machine-learning-powered research into

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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