Warm wishes from Orphanet this season
ReadSummary of Edition of 21 December 2018
Editorial
Political news
International News
A Rare Disease Action Plan launched by the Asia-Pacific Economic Cooperation
ReadESMO launches multi-stakeholder partnership: Rare Cancers Asia (RCA)
ReadWorkshop for EMA’s Priority Medicines Scheme and the FDA’s Breakthrough Therapy designation programme
ReadUSA: Results of FDA evaluation on orphan drug designations by the United States Government Accountability Office
ReadUSA: FDA releases guidance on targeted therapies
ReadUSA: Review of the initiatives from the National Center for Advancing Translational Sciences Office of Rare Diseases
ReadPotential patient numbers benefiting from Japan's initiative on rare and undiagnosed diseases (IRUD)
ReadUSA: Launch of a new biopharmaceutical company to develop gene therapies for hematological conditions
ReadBrazil: Quality of life with Duchenne muscular dystrophy discussed at Senate public hearing
ReadSouth Africa: Ten years of Smile Foundation at Tygerberg Hospital in Cape Town
ReadMalaysia: Rare diseases in the 2019 budget
ReadIndia: Patient organisations are concerned by delays in National Policy for Treatment of Rare Diseases implementation
ReadEuropean News
Official launch of the EJP-RD: The European Joint Programme for Rare Diseases will allocate 100 million euros for
ReadEURORDIS recommendations for the integration of European Reference Networks into national health systems
ReadAn overview of the involvement of patients with rare diseases in research in Europe
ReadConceptualisation and implementation of the central information portal on rare diseases: Protocol for a qualitative
ReadA collaborative network for refractory celiac disease
ReadLaunch of the European Open Science Cloud
ReadData management
A systematic review on national information system for rare diseases with an approach to data architecture
ReadExpansion of the Human Phenotype Ontology (HPO) knowledge base and resources
ReadFAIR Bioinformatics computation and data management: FAIRDOM and the Norwegian Digital Life initiative
ReadHealth Economics
The effect of a pediatric rare disease on subscriber retention rates for commercial health insurers in the US
ReadQuality of Life
A cross-sectional study on oral health-quality of life in children and adolescents with osteogenesis imperfecta
ReadSocial and economic impact of a case management approach for people with rare and complex conditions in Salaj, Romania
ReadSuicide risk among cancer survivors: Head and neck versus other cancers
ReadStudy Design
Recent advances in methodology for clinical trials in small populations: the InSPiRe project
ReadValidation of the Nine Hole Peg Test as a measure of dexterity in myotonic dystrophy type 1
ReadMeeting report of the third outcome measures in myotonic dystrophy type 1 (OMMYD-3) international workshop
ReadOrphan drugs
A study commissioned by NORD analyses use and cost of orphan drugs in the US
ReadInvestigating the landscape of US orphan product approvals
ReadThe European challenges of regulating and funding orphan medicinal products
ReadThe Foundation Fighting Blindness’ perspective on progress in inherited retinal disease drug discovery
ReadScientific news
And also...
Credits
OrphaNews, The Newsletter for the Rare Diseases Community.
OrphaNews is supported by the French Muscular Dystrophy Association (AFM).
Editor-in-chief: Ana Rath
Associate Editor: Charlotte Rodwell
Editor: Agathe Franck
Editor for Scientific Content: Agathe Franck
Scientific monitoring: Hélène Jagline
Contact Us
Editorial Board: Victoria Hedley, Yann Le Cam, Charlotte Rodwell, Anna Bucsics, Franz Schaefer, Ivana Cattaneo
ADVISORY EDITORIAL BOARD
Orphanet Partner Country Representatives: Romi Armando (Argentina), Kristine Hovhannesyan (Armenia), Hugh Dawkins (Australia), Till Voigtlander (Austria), Rumen Stefanov (Bulgaria), Micheil Innes (Canada), Ingeborg Barisic (Croatia), Marios Antoniades (Chyprus), Milan Macek (Czech Republic), Vallo Tillmann (Estonia), Helena Kääriäinen (Finland), Susanne Morlot (Germany), Eileen Treacy (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Atsuhiko Kawamoto (Japan), Ieva Malniece (Latvia), Birute Tumiene (Lithuania), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Krystyna Chrzanowska (Poland), Mario Carreira (Portugal), Cristina Rusu (Romania), Dragica Radojkovic (Serbia), Laszlo Kovacs (Slovakia), Luca Lovrecic (Slovenia), Francesc Palau (Spain), Désirée Gavhed (Sweden), Loredana D'Amato Sizonenko (Switzerland), Dorra H’mida-Ben Brahim (Tunisia), Sarah Stevens (UK)
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