RD Action: “State of the art” Report 2018
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INNOVCare Project results announced
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Orphadata: A new look platform for accessing aggregated data from Orphanet
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INNOVCare Project results announced
ReadOrphadata: A new look platform for accessing aggregated data from Orphanet
ReadFor a national RD framework in Australia: the Fair For Rare campaign
ReadThe Assistance Fund opens copay assistance program for patients with thrombocytopenia
ReadUSA: Alabama Rare Diseases Advisory Council held its first meeting
ReadUSA: The Social Security Administration expands the Compassionate Allowances program
ReadGhana: World Child Cancer helping to implement better healthcare for children with cancer in the country
Read20 years' experience from a Columbian reference centre of inborn errors of metabolism
ReadSTRIVE awards recognise efforts of nonprofit organization working for the Duchenne community
ReadRD-Action: Publication of six policy briefs on sustainability of health systems
Read13th eHealth Network meeting
ReadRD-Connect invites European Reference Networks
ReadTowards improving the availability of medicines in Europe
ReadThe "Survivorship Passport" for childhood cancer survivors
ReadNotice to stakeholders regarding the withdrawal of the United Kingdom from the European Union in clinical trials
ReadNew chair of the Committee for Orphan Medicinal Products
ReadAnne Bucher takes over the Directorate General for Health of the European Commission
ReadJuncker plan provides €85 million loan for research in rare and chronic diseases
ReadReview about data harmonisation for a molecularly driven health system
ReadClinically applicable deep learning for diagnosis and referral in retinal disease
ReadTutorial: rapidly identifying disease-associated rare variants using annotation and machine learning at whole-genome
ReadDES-mutation: System for exploring links of mutations and diseases
ReadnovoCaller: A Bayesian network approach for de novo variant calling from pedigree and population sequence data
ReadThe only NGLY1 patient registry updated
ReadA Nationwide registry-based study on mortality due to rare congenital anomalies
ReadSKmDB: an integrated database of next generation sequencing information in skeletal muscle
ReadNORD announces ten new rare disease registries
ReadThe new Kids First Data Resource Portal
ReadEight years after an international workshop on myotonic dystrophy patient registries: case study of a global
ReadRare disease registries: potential applications towards impact on development of new drug treatments
ReadNational information system for rare diseases with an approach to data architecture: a systematic review
ReadThe occurrence of 275 rare diseases and 47 rare disease groups in Italy
ReadHealthcare burden of rare diseases in Hong Kong: adopting ORPHA codes in ICD-10 based healthcare administrative datasets
ReadCost analyses of genomic sequencing: lessons learned from the MedSeq Project
ReadUsing "big data" in the cost-effectiveness analysis of next-generation sequencing technologies
ReadHealthcare resource utilisation in the management of hypophosphatasia in three patients
ReadRDMD raises $3 million for rare disease research
ReadInsuring patient access and affordability for treatments for rare and ultrarare diseases: a policy statement of the
ReadCost-effectiveness of healthcare interventions for rare cancers: Evidence from a systematic literature review and
ReadEconomic burden limiting proper healthcare delivery, management, and improvement of patient outcomes
ReadOncoKids: a comprehensive next-generation sequencing panel for pediatric malignancies
ReadSpinal muscular atrophy added to US national list of disorders to screen for at birth
ReadClinical and economics impact of adopting noninvasive prenatal testing as a primary screening method for fetal
ReadNew diagnostic kit for six lysosomal storage disorders
ReadIndia: a draft policy called "Policy For Prevention and Control of Hemoglobinopathies — Thalassemia, Sickle Cell Disease
ReadFollow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening
ReadThe epidemic of abnormal copy number variant cases missed because of reliance upon noninvasive prenatal screening
ReadFDA August 2018 marketing approvals of orphan drugs
ReadNew European marketing authorisation of medicines with orphan designation
ReadPharmacovigilance of medicines for rare and ultrarare diseases
ReadDrug repositioning: Concept, classification, methodology and importance in rare diseases
ReadDefining orphan conditions in the context of the European orphan regulation: challenges and evolution
ReadOrphan cancer drugs in the era of precision medicine
ReadRegulatory, reimbursement and pricing barriers to accessing drugs for rare disorders in Canada
ReadAnalysis of specifications of Japan and Europe risk management plans for orphan drugs
ReadAnnual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment
ReadERN for rare vascular diseases (VASCERN) outcome measures for hereditary haemorrhagic telangiectasia
ReadOrphaNews, The Newsletter for the Rare Diseases Community.
OrphaNews is supported by the French Muscular Dystrophy Association (AFM).
Editor-in-chief: Ana Rath
Associate Editor: Charlotte Rodwell
Editor: Agathe Franck
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
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