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Summary of Edition of 10 October 2018

RD Action: “State of the art” Report 2018

INNOVCare Project results announced

Orphadata: A new look platform for accessing aggregated data from Orphanet

For a national RD framework in Australia: the Fair For Rare campaign

The Assistance Fund opens copay assistance program for patients with thrombocytopenia

USA: Alabama Rare Diseases Advisory Council held its first meeting

USA: The Social Security Administration expands the Compassionate Allowances program

Ghana: World Child Cancer helping to implement better healthcare for children with cancer in the country

20 years' experience from a Columbian reference centre of inborn errors of metabolism

STRIVE awards recognise efforts of nonprofit organization working for the Duchenne community

RD-Action: Publication of six policy briefs on sustainability of health systems

13th eHealth Network meeting

RD-Connect invites European Reference Networks

Towards improving the availability of medicines in Europe

The "Survivorship Passport" for childhood cancer survivors

Notice to stakeholders regarding the withdrawal of the United Kingdom from the European Union in clinical trials

New chair of the Committee for Orphan Medicinal Products

Anne Bucher takes over the Directorate General for Health of the European Commission

Juncker plan provides €85 million loan for research in rare and chronic diseases

Review about data harmonisation for a molecularly driven health system

Clinically applicable deep learning for diagnosis and referral in retinal disease

Tutorial: rapidly identifying disease-associated rare variants using annotation and machine learning at whole-genome

DES-mutation: System for exploring links of mutations and diseases

novoCaller: A Bayesian network approach for de novo variant calling from pedigree and population sequence data

The only NGLY1 patient registry updated

A Nationwide registry-based study on mortality due to rare congenital anomalies

SKmDB: an integrated database of next generation sequencing information in skeletal muscle

NORD announces ten new rare disease registries

The new Kids First Data Resource Portal

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global

Rare disease registries: potential applications towards impact on development of new drug treatments

National information system for rare diseases with an approach to data architecture: a systematic review

The occurrence of 275 rare diseases and 47 rare disease groups in Italy

Healthcare burden of rare diseases in Hong Kong: adopting ORPHA codes in ICD-10 based healthcare administrative datasets

Cost analyses of genomic sequencing: lessons learned from the MedSeq Project

Using "big data" in the cost-effectiveness analysis of next-generation sequencing technologies

Healthcare resource utilisation in the management of hypophosphatasia in three patients

RDMD raises $3 million for rare disease research

Insuring patient access and affordability for treatments for rare and ultrarare diseases: a policy statement of the

Cost-effectiveness of healthcare interventions for rare cancers: Evidence from a systematic literature review and

Economic burden limiting proper healthcare delivery, management, and improvement of patient outcomes

OncoKids: a comprehensive next-generation sequencing panel for pediatric malignancies

Spinal muscular atrophy added to US national list of disorders to screen for at birth

Clinical and economics impact of adopting noninvasive prenatal testing as a primary screening method for fetal

New diagnostic kit for six lysosomal storage disorders

India: a draft policy called "Policy For Prevention and Control of Hemoglobinopathies — Thalassemia, Sickle Cell Disease

Follow-up status during the first 5 years of life for metabolic disorders on the federal Recommended Uniform Screening

The epidemic of abnormal copy number variant cases missed because of reliance upon noninvasive prenatal screening

FDA August 2018 marketing approvals of orphan drugs

New European marketing authorisation of medicines with orphan designation

Pharmacovigilance of medicines for rare and ultrarare diseases

Drug repositioning: Concept, classification, methodology and importance in rare diseases

Defining orphan conditions in the context of the European orphan regulation: challenges and evolution

Orphan cancer drugs in the era of precision medicine

Regulatory, reimbursement and pricing barriers to accessing drugs for rare disorders in Canada

Analysis of specifications of Japan and Europe risk management plans for orphan drugs

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment

ERN for rare vascular diseases (VASCERN) outcome measures for hereditary haemorrhagic telangiectasia

Credits

OrphaNews, 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

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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