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Summary of Edition of 07 October 2020

European Commission evaluation of the medicines for rare diseases and children legislation

EC videos demonstrate the added-value of ERNs

ERN GUARD Heart: Core Registries for patients with rare cardiac conditions

ERN RARE LIVER: Response to the treatment of Autoimmune Hepatitis

VASCERN-HHT: Position statement on cerebral screening in adults and children with hereditary haemorrhagic telangiectasia

VASCERN:Three new patient pathways on capillary, venous and lymphatic patient malformation

ERN-EuroBloodNet: Collaborative Platform on Red Blood Cell and COVID-19 patients to collect data from 13 European

Orphanet encyclopedia translated in Hebrew

Pakistan: Knowledge and management of rare diseases

South India: Comprehensive Rare Disease Care model for screening and diagnosis of rare genetic diseases

Rare Disease International and EURORDIS: Time for more advocacy for the inclusive implementation of the universal health

Russia: New horizons for rare diseases

Slovenia : Pilot rare disease registry

French National Assembly adopts an amendment allowing the use of a genetic test for newborn screening

IMI Scientific Committee: New recommendations on rare diseases

Rare diseases policy and strategy in the Netherlands

Challenges in funding high cost rare diseases drugs in England

New profit model for rare diseases drugs for companies, from blockbuster to “nichebuster”

Which egalitarian arguments for a higher cost for orphan drugs?

Orphan Drug Development in Cardiovascular Medicine is still challenging

LMC France: Patient organisations' crucial role in contribution to rare diseases and its involvement in drug information

Alignment of health technology assessments and price negotiations for new drugs for rare disorders in Canada and New

CRESim program methodological framework for drug development in rare diseases

Committee for Orphan Medicinal Products meeting report on the review of applications for orphan designation June 2020

Committee for Orphan Medicinal Products meeting report on the review of applications for orphan designation July 2020

Committee for Orphan Medicinal Products meeting report on the review of applications for orphan designation September

Meeting highlights from the Committee for Medicinal Products for Human - May 2020

Meeting highlights from the Committee for Medicinal Products for Human - June 2020

Meeting highlights from the Committee for Medicinal Products for Human Use - July 2020

Meeting highlights from the Committee for Medicinal Products for Human Use - September 2020

PKU day-to-day impact on lives of patients in Brazil

Propensity Score Methods in Rare Disease using Observational Data, a Systemic Lupus Erythematosus case

Raising rare disease awareness using red flags, role play simulation and patient educators: a novel educational method

Publication of collected data of sickle cell disease registry implementation consortium (SCDIC)

The European Alpha-1 antitrypsin Deficiency Research Collaboration (EARCO) international registry, and the Importance of

Clinician-centric diagnosis of rare genetic diseases:gene pertinence metric performance in in support of clinicians

Treatabolome: a guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets

Patient participation in support forums, a risk of re-identification of rare disease patient data

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: Josiane Kijigo
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, Irene Mathijssen, Daria Julkowska, Franz Schaefer, Ivana Cattaneo

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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Photo credit: Serimedis (unless otherwise stated)