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Summary of Edition of 28 February 2019

Rare Disease Day 2019: #ShowYourRare, show you care

NGO Committee for Rare Diseases: Call for UN resolution and integration of RD in Universal Health Coverage

New collaboration between Orphanet and Japan’s Translational Research Center for Medical Innovation

New ERN-RND diagnostic flowcharts available

Seven projects designated as GA4GH new driver projects for 2019

China: Further use of big data for rare diseases

South Korea: 7 new rare disease base centers

Second formal meeting of the Steering Group on Health Promotion, Disease Prevention and Management of Non-Communicable

NICE recommends the use of Tisagenlecleucel for relapsed or refractory diffuse large B-cell lymphoma

University of Rochester Medical Center certified as a Duchenne Care Center

European Commission’s recommendation on cross-border access to Electronic Health Records

Opinions on the proposal for a regulation on health technology assessment and amending directive 2011/24/EU

Rare Disease Models and Mechanisms-Europe registry open for registration

Michelle Muscat designated as EURORDIS’ Patron

Generics for expensive and rare medicines to be developed by Amsterdam university

Assessment of the US FDA’s paediatric voucher programme

Real-world evidence for the analysis of cost-effectiveness

Cost-effectiveness assessment of nusinersen for infantile-onset spinal muscular atrophy and later-onset spinal muscular

Demand for more resources to treat Latvian rare disease patients

Health economic modelling review for Cystic Fibrosis

European Medicines Agency’s COMP and Paediatric Committee’s conditions for drug development compared

Orphan drugs development challenges and solutions

Orphan drug development incentives: a review of the regulatory framework

Meeting highlights from the Committee for Medicinal Products for Human Use (CHMP) 15-18 October 2018

Meeting highlights from the Committee for Medicinal Products for Human Use (CHMP) 12-15 November 2018

Meeting highlights from the Committee for Medicinal Products for Human Use (CHMP) 10-13 December 2018

Committee for Orphan Medicinal Products (COMP) meeting report on the review of applications for orphan designation for

Committee for Orphan Medicinal Products (COMP) meeting report on the review of applications for orphan designation for

Committee for Orphan Medicinal Products (COMP) meeting report on the review of applications for orphan designation for

Committee for Orphan Medicinal Products (COMP) meeting report on the review of applications for orphan designation for

Committee for Orphan Medicinal Products (COMP) meeting report on the review of applications for orphan designation for

Committee for Orphan Medicinal Products (COMP) meeting report on the review of applications for orphan designation for

FDA September 2018 marketing approvals of orphan drugs

FDA October 2018 marketing approvals of orphan drugs

FDA November 2018 marketing approvals of orphan drugs

FDA December 2018 marketing approvals of orphan drugs

Novel algorithm to identify Becker and Duchenne patients in large administrative databases

New web-based registry for rare genetic lipid disorders

Phenotero: a tool for annotating as you write on HPO

New platform and patient-led registry for paroxysmal nocturnal hemoglobinuria

Patients’ view on rare disease trial

Stability of a novel measure of adaptive behaviour over time

New tool for genetic variant prioritisation

Introducing DeepGestalt, a deep learning tool for facial phenotypic evaluations

Facial recognition: Microsoft’s plea for rare disease applications and a need for a more stringent regulatory framework

The use and challenges of big data in healthcare

Genomic data: the use of the Cloud, advantages and regulatory considerations

Women’s positive experiences with NIPT in Australia

Examination of the impact of prenatal diagnosis for severe congenital heart diseases

Women’s attitude, considerations and views on NIPT

Incidental positive screening in low-resource setting

Cost-effectiveness of early cancer surveillance for patients with Li–Fraumeni syndrome

Benefits of forum discussions for genetic testing

Health-related quality of life in bladder exstrophy-epispadias complex patients

Management strategies for burning mouth syndrome

Patient-Reported Outcome Measurement Information System’s validity for osteogenesis imperfecta

Cost of Dravet syndrome and psychosocial impacts on caregivers

Rett Syndrome caregivers’ experiences

E-diaries for record keeping and therapy compliance

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: Florent Simon
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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