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Summary of Edition of 31 January 2019

Orphadata selected as ELIXIR Core Data Resource

OrphaNews introduces its new editor

Launch of the annual Orphanet satisfaction survey

ORDO now available in five languages

New edition of Orphanet Report: Prevalence of rare diseases

New edition of Orphanet Report : List of rare diseases

New Emergency Guidelines document for Nephrogenic Diabetes Insipidus in Spanish

Updated ESMO-EURACAN guidelines

Report of 2nd ERN-EYE workshop on genetic testing released

Affirmation of the Ataxia-UK guideline by the ERN-RND

Introduction to ERN Genturis

Second annual meeting of the NeuroMuscular Disease European Reference Network

Report from the 4th Conference on ERNs

Australia: New pilot program to help patients with rare diseases navigate the healthcare system

Australia : ‘Fair for Rare’ Summit report

India: Removal of price cap on patented orphan drugs results in exorbitant cost for patients

India: The government is forced to reframe its policy to treat rare diseases

Nigeria: Free surgery opportunity for people living with congenital abnormalities

USA: FDA announces a new approach to advance clinical testing for the development of novel therapies

USA: Resolution introduced in Congress for continued support of the Orphan Drug Act

USA: Study confirms geographic discrimination in lung transplant allocation prior to 2017

USA: New factsheet on the Orphan Drug Act available

USA: New campaign to support people living with with Familial Chylomicronemia Syndrome

Meeting between the International Society for Cell Therapy and DG SANTE

Extraordinary meeting of the Steering group on Health Promotion, Disease Prevention and Management of Non-communicable

1 million Genomes project: first meetings and agreement

Court ruling from the General Court upholds the need to prove a significant benefit over all authorised medicinal

Approval of Compass project

Final report on enhancing information provision to patients regarding cross-border healthcare NCPs

New document on applying the ERN model published by the Expert Panel on Effective Ways of Investing in Health (EXPH)

UK: Further guidance note on the regulation of medicines, medical devices and clinical trials in the event of a no-deal

UK: Discussion on the progress of the UK Strategy for Rare Diseases at the UK Rare Disease Forum Conference

UK: 100 000 Genomes Project reaches its target and objectives

UK: New Life Sciences Sector Deal includes significant investment in R&D and innovative project for early disease

Ontologies and precision medicine

Biomarker analysis : new database brings prospect of precision medicine approach for alkaptonuria and potentially other

Integrative Database of traditional Chinese medicine with symptom mapping for phenotypic drug discovery

Release of the Spanish language version of von Hippel-Lindau patient registry

Identification of challenges faced by companies in Advanced Therapy Medicinal Products development

Pharmacoeconomic analysis of the Highly Innovative Drug Programme in the Czech Republic

Study analyses the cost-effectiveness of the DMT alemtuzumab in the treatment of relapsing form of multiple sclerosis

New screening technology for fragile X syndrome to be tested

Whole-exome sequencing for unexplained recurrent spontaneous abortion and fetal malformations

Newborn screening for Severe Combined Immunodeficiency in now all 50 US states

USA: New Jersey bill to improve newborn screening approved by Senate

USA: Lantern Project provides free diagnostic genetic testing for lysosomal storage rare diseases

Genetic tests: FDA recognises the public database ClinGen Expert Curated Human Genetic Data

Development of a shorter amyotrophic lateral sclerosis-specific quality of life form

Literature review on anxiety and mood disorders in systemic lupus erythematosus population

Impact on parents and children living with a genetic muscle disorder

A review of psychosocial impact of 22q11 deletion syndrome on patients and relatives

Oral Health-related quality of life study for people affected by Marfan Syndrome

Well-being comparison between mothers of children affected by rare diseases and autism

Drug Discovery Development and Deployment Map

Multi-criteria decision analysis within Health Technology Assessment for rare diseases and orphan drugs

New study demonstrates that orphan drug exclusivity is fulfilling its objectives

Funding refusal from NICE for two hereditary transthyretin-related amyloidosis therapies (Onpattro and Tegsedi)

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
Scientific Content Editor: 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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