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Summary of Edition of 31 August 2018

Fostering research on rare diseases in Europe: The European Joint co-fund Programme for Rare Diseases (EJP-RD) approved

New page: "Clinical Signs and Symptoms"

Orphanet Journal of Rare Disease: call for papers

Statement from a representative of the NGO Committee for Rare Diseases at the United Nations Conference on Disability

US Congress passes Right to Try Act

Statement from FDA Commissioner on new agency effort to advance patient voice in medical product development and

Australians urged to get tested for syphilis after congenital syphilis re-emergence

Indian National Health Mission signs MoU with private hospitals under RBSK

Ultrarunner Dave Proctor speaks for rare disease awareness at Parliament Hill meeting

All Party Parliamentary Group meeting on European Reference Networks

Launch of the RD-Connect Community

Implementing ORPHA codes in European countries: the RDCODE project approved

European study on cross-border healthcare

Suspension of EMA activities in preparation for Brexit

EMA: Guideline on quality, non-clinical and clinical aspects of medicinal products containing genetically modified cells

Outrageous prices of orphan drugs: a call for collaboration

Making sure orphan drugs are not left behind

Methodological issues in assessing the economic value of next-generation sequencing tests

Specialty drug coverage varies across commercial health plan in the US

The burden of congenital hyperinsulinism in the United Kingdom

Budget impact on the Italian National Health System of hemophilia A treatment

Findings and recommendations of the Privacy-Preserving Record Linkage Task Force

Responsible sharing of biomedical data and biospecimens via the "Automatable Discovery and Access Matrix" (ADA-M)

Implementation study end report ELIXIR project: Remote real-time visualization of human rare disease genomics data

New IRDiRC Recognized Resource: Exomiser

Next generation phenotyping using narrative reports in a rare diseases clinical data warehouse

OxO: A gravy of ontology mapping extracts

A new phenotype-disease matching tool for rare genetic diseases

HPO2GO: Prediction of human phenotype ontology term associations for proteins using cross-ontology annotation

Computational resources associating diseases with genotypes, phenotypes and exposures

Australian NextGen Test to screen for 60 genetic conditions in newborns

National Health Commission in China to screen newborns for congenital heart disease

Effect of cell-free DNA screening vs direct invasive diagnosis on miscarriage rates in women with pregnancies at high

Review on peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomics technology

Clinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT)

Valuable cache of brain cancer biomedical data called REMBRANDT now freely available

TGen opens tissue donation portal for Diffuse Intrinsic Pontine Glioma

KEDPLASMA USA expanding with two more plasma collection centres

Developing a database for Rett syndrome research performed in the European Union

IRENE: the Italian registry of pulmonary non-tuberculous mycobacteria

Review: Recommendations for improving the quality of rare disease registries

Review: Using patient registries to identify triggers of rare diseases

EMA: Draft guideline on the use of minimal residual disease as a clinical endpoint in multiple myeloma studies

Improving the analysis of composite endpoints in rare disease trials

33 recommendations from the IDeAI-net about design and analysis of small population clinical trials

Identification of approval conditions for orphan drugs for neurological disorders by the Japanese regulatory agency

FDA July 2018 marketing approvals of orphan drugs

Medicines Adaptive Pathways to Patients: why, when and how to engage?

Amyotrophic lateral sclerosis: Clinigen and Mitsubishi Tanabe Pharma enter into agreement to initiate a Managed Access

Amyotrophic lateral sclerosis: a mini review on riluzole and edavarone

NICE does not consider nusinersen or Spinraza a cost-effective use of NHS resources

Clinical trial evidence supporting FDA approval of drugs granted Breakthrough Therapy designation

VIGIAPATH program in pulmonary arterial hypertension

EMA: Improved way to apply for and manage orphan designations

The European Reference Networks video is now available in 24 European languages

Cross-ERN task force on e-histopathology

The ERNICA ERN now has a website

TransplantChild: new website

PaedCan: new webinar on retinoblastoma for pediatric oncologists

Beginning of the testing phase of an EYE-customised CPMS

Credits

OrphaNews, The Newsletter of the Rare Diseases Community.
OrphaNews is supported by the European Commission's DG SANTE (RD-ACTION Joint Action N° 677024) and the French Muscular Dystrophy Association (AFM)
Editor-in-chief: Ana Rath
Editor: Agathe Franck
Editor for Scientific Content: Agathe Franck
Contact Us
Editorial Board: Valentina Bottarelli, Teresinha Evangelista, Victoria Hedley, Yann Le Cam, Charlotte Rodwell, Domenica Taruscio, Ariane Weinmann

Advisory Editorial Board: Anna Bucsics, Paul Boom, Bruno Dallapiccola, Jordi Llinares-Garcia, Alastair Kent, Milan Macek, Till Voigtländer

INTERNATIONAL CORRESPONDENTS
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), Violetta Anastasiadou (Cyprus), Milan Macek (Czech Republic), John Rosendahl Ostergaard (Denmark), Vallo Tillmann (Estonia), Sirpa Ala-Mello (Finland), Joerg Schmidtke (Germany), Eileen Treacy (Ireland), Annick Raas-Rothschild (Israel), Bruno Dallapiccola (Italy), Tomoko Kodama (Japan), Jana Lepiksone (Latvia), André Mégarbané (Lebanon), Vaidutis Kucinskas (Lithuania), Yolande Wagener (Luxembourg), Abdelaziz Sefiani (Morocco), Gert-Jan van Ommen (Netherlands), Stein Are Aksnes (Norway), Malgorzata Krajewska-Walasek (Poland), Paul Nogueira (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 (Tunisia), Ugur Ozbek (Turkey), Sarah Stevens (UK) 
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Disclaimer: This newsletter is part of the project / joint action .677024 / RD-ACTION. which has received funding from the European Union.s Health Programme (2014-2020).
The content of newsletter represents the views of the Editorial Board only and is his/her sole responsibility; it cannot be considered to reflect the views of the European Commission and/or the Consumers, Health, Agriculture and Food Executive Agency or any other body of the European Union. The European Commission and the Agency do not accept any responsibility for use that may be made of the information it contains.

Photo credit : Serimedis (unless otherwise stated)