Fostering research on rare diseases in Europe: The European Joint co-fund Programme for Rare Diseases (EJP-RD) approved
ReadSummary of Edition of 31 August 2018
Editorial
Political news
International News
Statement from a representative of the NGO Committee for Rare Diseases at the United Nations Conference on Disability
ReadUS Congress passes Right to Try Act
ReadStatement from FDA Commissioner on new agency effort to advance patient voice in medical product development and
ReadAustralians urged to get tested for syphilis after congenital syphilis re-emergence
ReadIndian National Health Mission signs MoU with private hospitals under RBSK
ReadUltrarunner Dave Proctor speaks for rare disease awareness at Parliament Hill meeting
ReadEuropean News
All Party Parliamentary Group meeting on European Reference Networks
ReadLaunch of the RD-Connect Community
ReadImplementing ORPHA codes in European countries: the RDCODE project approved
ReadEuropean study on cross-border healthcare
ReadSuspension of EMA activities in preparation for Brexit
ReadEMA: Guideline on quality, non-clinical and clinical aspects of medicinal products containing genetically modified cells
ReadHealth Economics
Outrageous prices of orphan drugs: a call for collaboration
ReadMaking sure orphan drugs are not left behind
ReadMethodological issues in assessing the economic value of next-generation sequencing tests
ReadSpecialty drug coverage varies across commercial health plan in the US
ReadThe burden of congenital hyperinsulinism in the United Kingdom
ReadBudget impact on the Italian National Health System of hemophilia A treatment
ReadBioinformatics
Findings and recommendations of the Privacy-Preserving Record Linkage Task Force
ReadResponsible sharing of biomedical data and biospecimens via the "Automatable Discovery and Access Matrix" (ADA-M)
ReadImplementation study end report ELIXIR project: Remote real-time visualization of human rare disease genomics data
ReadNew IRDiRC Recognized Resource: Exomiser
ReadNext generation phenotyping using narrative reports in a rare diseases clinical data warehouse
ReadOxO: A gravy of ontology mapping extracts
ReadA new phenotype-disease matching tool for rare genetic diseases
ReadHPO2GO: Prediction of human phenotype ontology term associations for proteins using cross-ontology annotation
ReadComputational resources associating diseases with genotypes, phenotypes and exposures
ReadScreening / Testing
Australian NextGen Test to screen for 60 genetic conditions in newborns
ReadNational Health Commission in China to screen newborns for congenital heart disease
ReadEffect of cell-free DNA screening vs direct invasive diagnosis on miscarriage rates in women with pregnancies at high
ReadReview on peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomics technology
ReadClinical experience with sex chromosome aneuploidies detected by noninvasive prenatal testing (NIPT)
ReadRegistries & Biobanks
Valuable cache of brain cancer biomedical data called REMBRANDT now freely available
ReadTGen opens tissue donation portal for Diffuse Intrinsic Pontine Glioma
ReadKEDPLASMA USA expanding with two more plasma collection centres
ReadDeveloping a database for Rett syndrome research performed in the European Union
ReadIRENE: the Italian registry of pulmonary non-tuberculous mycobacteria
ReadReview: Recommendations for improving the quality of rare disease registries
ReadReview: Using patient registries to identify triggers of rare diseases
ReadStudy Design
EMA: Draft guideline on the use of minimal residual disease as a clinical endpoint in multiple myeloma studies
ReadImproving the analysis of composite endpoints in rare disease trials
Read33 recommendations from the IDeAI-net about design and analysis of small population clinical trials
ReadIdentification of approval conditions for orphan drugs for neurological disorders by the Japanese regulatory agency
ReadOrphan Drugs
FDA July 2018 marketing approvals of orphan drugs
ReadMedicines Adaptive Pathways to Patients: why, when and how to engage?
ReadAmyotrophic lateral sclerosis: Clinigen and Mitsubishi Tanabe Pharma enter into agreement to initiate a Managed Access
ReadAmyotrophic lateral sclerosis: a mini review on riluzole and edavarone
ReadNICE does not consider nusinersen or Spinraza a cost-effective use of NHS resources
ReadClinical trial evidence supporting FDA approval of drugs granted Breakthrough Therapy designation
ReadVIGIAPATH program in pulmonary arterial hypertension
ReadEMA: Improved way to apply for and manage orphan designations
ReadEuropean Reference Networks
The European Reference Networks video is now available in 24 European languages
ReadCross-ERN task force on e-histopathology
ReadThe ERNICA ERN now has a website
ReadTransplantChild: new website
ReadPaedCan: new webinar on retinoblastoma for pediatric oncologists
ReadBeginning of the testing phase of an EYE-customised CPMS
ReadScientific news
And also...
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.
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