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Summary of Edition of 21 December 2018

Warm wishes from Orphanet this season

Dr Lucia Monaco succeeds Dr Austin as IRDiRC Chair

New #EUProtects video featuring the ERNs

Endo-ERN: Quality of care standard for adrenal disorders

ERN-RND: Poster – Diagnostic flowcharts

A Rare Disease Action Plan launched by the Asia-Pacific Economic Cooperation

ESMO launches multi-stakeholder partnership: Rare Cancers Asia (RCA)

Workshop for EMA’s Priority Medicines Scheme and the FDA’s Breakthrough Therapy designation programme

USA: Results of FDA evaluation on orphan drug designations by the United States Government Accountability Office

USA: FDA releases guidance on targeted therapies

USA: Review of the initiatives from the National Center for Advancing Translational Sciences Office of Rare Diseases

Potential patient numbers benefiting from Japan's initiative on rare and undiagnosed diseases (IRUD)

USA: Launch of a new biopharmaceutical company to develop gene therapies for hematological conditions

Brazil: Quality of life with Duchenne muscular dystrophy discussed at Senate public hearing

South Africa: Ten years of Smile Foundation at Tygerberg Hospital in Cape Town

Malaysia: Rare diseases in the 2019 budget

India: Patient organisations are concerned by delays in National Policy for Treatment of Rare Diseases implementation

Official launch of the EJP-RD: The European Joint Programme for Rare Diseases will allocate 100 million euros for

EURORDIS recommendations for the integration of European Reference Networks into national health systems

An overview of the involvement of patients with rare diseases in research in Europe

Conceptualisation and implementation of the central information portal on rare diseases: Protocol for a qualitative

A collaborative network for refractory celiac disease

Launch of the European Open Science Cloud

Big data and stratified medicine: What does it mean for children?

A correspondence on plain-language medical vocabulary for precision diagnosis

A systematic review on national information system for rare diseases with an approach to data architecture

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

FAIR Bioinformatics computation and data management: FAIRDOM and the Norwegian Digital Life initiative

A retrospective analysis of the European Society for Immunodeficiency (ESID)

Data from the Serbian registry on myotonic dystrophy type 2

ClinGen’s GenomeConnect registry enables patient-centred data sharing

The effect of a pediatric rare disease on subscriber retention rates for commercial health insurers in the US

FDA guidance for next generation sequencing-based testing: balancing regulation and innovation in precision medicine

Attitudes toward prenatal screening for chromosomal abnormalities

A cross-sectional study on oral health-quality of life in children and adolescents with osteogenesis imperfecta

Social and economic impact of a case management approach for people with rare and complex conditions in Salaj, Romania

Suicide risk among cancer survivors: Head and neck versus other cancers

Recent advances in methodology for clinical trials in small populations: the InSPiRe project

Validation of the Nine Hole Peg Test as a measure of dexterity in myotonic dystrophy type 1

Meeting report of the third outcome measures in myotonic dystrophy type 1 (OMMYD-3) international workshop

A study commissioned by NORD analyses use and cost of orphan drugs in the US

Investigating the landscape of US orphan product approvals

The European challenges of regulating and funding orphan medicinal products

The Foundation Fighting Blindness’ perspective on progress in inherited retinal disease drug discovery

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
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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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