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2022-09-05 14:13:13

rdodj Search OAE Journals Rare Disease and Orphan Drugs Journal Hot Keywords rare disease orphan drug Navigation BarMenu rdodj Home About About the Journal Aims and Scope Editorial Policies Editorial Board Youth Editorial Board News Partners Contact Us For Authors Author Instructions Article Processing Charges Editorial Process Manuscript Templates Submit a Manuscript For Reviewers Peer Review Guidelines Articles Special Issues All Special Issues Ongoing Special Issues Special Issue Ebooks Special Issue Guidelines Volumes Accepted Manuscripts About the Journal Editorial Policies APCs Articles Editorial Process All Special Issues News Contact Us Sign InSubmit Latest Issues Volume 1, Issue 3 Volume 1, Issue 2 Volume 1, Issue 1 Congratulations to Dr. Annick Raas-Rothschild and Dr. Brice Korkmaz for Winning the Best Poster Prize at the Rare Diseases Foundation Annual Scientific Conference: COLLOQUE SCIENTIFIQUE ANNUEL 2022 Lysosomal storage disorders with neurological manifestations Different E-box binding transcription factors, similar neuro-developmental defects: ZEB2 (Mowat-Wilson syndrome) and TCF4 (Pitt-Hopkins syndrome) The importance of psychological support for parents and caregivers of children with a rare disease at diagnosis Enhancing the value of clinical networks for rare diseases The Second issue of Rare Disease and Orphan Drugs Journal for 2022 Released Online The First Editorial Board Meeting of Rare Disease and Orphan Drugs Journal was Successfully Held Online Aims and Scope The importance of psychological support for parents and caregivers of children with a rare disease at diagnosis Thomas Kenny,...Deborah Woodman Review|Published on: 8 Apr 2022 The dynamic and urgent path of rare disease and orphan drug research Daniel Scherman Editorial|Published on:16 Mar 2021 Submit a ManuscriptSign InRegister Subscribe To receive email updates about the journal, please subscribe here. Aims and ScopeEditorial BoardEditorial PoliciesAuthor InstructionsAPC Editorial Process Manuscript Templates Contact UsTweets by @OAE_RDODJ Articles Foundation for Rare Diseases Annual Scientific Conference: Colloque Scientifique Annuel 2022 Fondation Maladies Rares Conference Report|Published on:11 Jul 2022 Enzyme replacement therapy: current challenges and drug delivery prospects via extracellular vesicles Amanda K. A. Silva,...Ibane Abasolo Editorial|Published on: 4 Jul 2022 Rare diseases: specific challenges for sustainable accessibility of treatments for patients Abstract In late 2021, the health technology assessment of the French National Authority for Health was In late 2021, the health technology assessment of the French National Authority for Health was ... MORE In late 2021, the health technology assessment of the French National Authority for Health was seized by the French Ministry of Solidarity and Health to address a specific challenge, the identification of solutions contributing to the development of the methodological expertise in new types of clinical studies for rare diseases. Experts from the rare diseases environment were gathered by OrphanDev, the French network of expertise dedicated to rare diseases. They allowed to identify some of the current issues in France concerning rare diseases, and then present different solutions, in particular related to the evaluation process of orphan drugs and the collection of data on rare diseases. LESS Full article Lucas Cortial,...Franck Mouthon Technical Note|Published on: 8 Jun 2022 Audiological findings in an Indian child with Johanson-Blizzard syndrome: a case report Abstract Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder characterized by multi-system involvement and facial Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder characterized by multi-system involvement and facial ... MORE Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder characterized by multi-system involvement and facial dysmorphic features. Sensorineural hearing loss is one of the most common manifestations of this pathology. Detailed audiological evaluation in confirmed cases of JBS is essential for the appropriate management of hearing loss. We present the audiological features of a six-year-old Indian girl with Johanson-Blizzard syndrome along with the less emphasized association of café-au-lait spots with JBS. LESS Full article Deena Priya,...Sharanya S Case Report|Published on:25 May 2022 Managing rare diseases: examples of national approaches in Europe, North America and East Asia Abstract Around 4% of the global population suffers from a rare disease. Apart from the medical Around 4% of the global population suffers from a rare disease. Apart from the medical ... MORE Around 4% of the global population suffers from a rare disease. Apart from the medical aspect, economic, organisational, and political approaches remain key aspects when it concerns the evolution of the world of rare diseases. We review here the principal specific national initiatives and organisations in Europe, North America and East Asia. Thereafter, we propose the outlines of a possible optimal approach, inspired by the successes of the individual national organisations. This work should be taken into account in the definition of large scale multi-national rare diseases programs, such as the European Joint Programme on Rare Diseases. LESS Full article Lucas Cortial,...Valérie Trentesaux Review|Published on:24 May 2022 Enhancing the value of clinical networks for rare diseases Abstract Healthcare networks for rare diseases are developing around the world, concentrating expertise and knowledge from Healthcare networks for rare diseases are developing around the world, concentrating expertise and knowledge from ... MORE Healthcare networks for rare diseases are developing around the world, concentrating expertise and knowledge from China and Japan to the United States and across Europe. Networked care is scaling up as an effective model of care for rare diseases, with prevention, diagnosis, care and treatment administered locally, informed by the body of knowledge and expertise from the whole network. Now, as the United Nations encourages the development of rare disease networks in all countries, it is timely to reflect on the key characteristics of an effective network. This article aims to identify the core themes needed for a clinical network to be healthy. This article drawing on experience from existing networks through a series of semi-structured interviews, insights from leaders of existing networks are then triangulated with the published evidence. The review aims to identify the themes that allow a clinical network to be effective and flourish. Healthcare networks are best understood as learning systems to generate collaborative knowledge used to inform the best possible care. Six themes are consistently reported in the literature and leaders’ experience: Trust, Communication, Leadership, Learning, Diversity and Resources. Learning together is a key element of the success of effective networks and is most effective when networks are professionally multi-cultural and diverse, including the voices of people living with a rare disease. Patient representative involvement is fundamental to network collaboration and is recognized as a key aspect of early successes. Clinical leadership is critical to providing legitimacy and trust, creating a common identity and promoting collaboration. Networks take time, resources and coordination to develop. Although in-kind support and voluntary contributions of network members are important, inadequate resourcing is a critical barrier to the long-term sustainability and effectiveness of networks. This review explores the core themes of effective networks. Through harnessing digital solutions that enable experts to coordinate care virtually across a clinical network, healthcare for people living with a rare disease is evolving to meet their complex needs. However, payment models to finance these models of care still lag behind innovative healthcare delivery models. LESS Full article Matthew Bolz-Johnson,...Thomas Kenny Opinion|Published on:22 Apr 2022 See more Ongoing Special Issues Topic: Leukodystrophies Dr. Dominik Fröhlich Submission Deadline: 31 Dec 2023 Published articles: 0 Submit to this Special Issue Contact Assistant Editor Topic: Neutrophil Serine Proteases in Rare Diseases Dr. Brice Korkmaz Submission Deadline: 31 Aug 2022 Published articles: 0 Submit to this Special Issue Contact Assistant Editor See more About The Journal ISSN 2771-2893 (Online) Publisher OAE Publishing Inc. Article Processing Charges $600 Editor-in-Chief Daniel Scherman Publishing Model Gold Open Access Copyright Copyright is retained by author(s) Publication FrequencyQuarterlyIndexingGoogle ScholarDimensionsLens Journal Data Analysis Total publications: 14 Total article views: 12,759 Total article downloads: 1,810 Editorial Board See more Daniel Scherman Jacques S Beckmann Bridget Bax Shoumo Bhattacharya Olivier Blin Matt Bolz-Johnson Han G. Brunner Ana Buj-Bello Gillian Butler-Browne Guillaume Canaud Orly Elpeleg Dominik Fröhlich Carine Giovannangeli Salima Hacein-Bey-Abina Ayal Hendel Virginie Hivert Gary Housley Danny Huylebroeck Reena Kartha Peter M. Krawitz Pierre Levy Bai Lu Daniel O'Connor David Pearce Yves Pirson Manuel Posada Aurora Pujol Annick Raas-Rothschild Peter N. Robinson Rodrigue Rossignol Violeta Stoyanova-Beninska Gabriele Thumann Capucine Trollet Joris A. Veltman Durhane Wong-Rieger Aims and Scope News The Rare Disease and Orphan Drugs Journal (RDODJ) is an international, peer-reviewed, open access journal for the publication of innovative research works on various aspects of this rapidly growing multidisciplinary and interdisciplinary field.RDODJ will report on scientific advances in the genetics of rare diseases, the molecular basis of the pathologies, and translational research on diagnosis, prevention and treatment.In addition, RDODJ aims to provide a forum for scientific studies and discussion covering the important regulatory, socio-economic and human science issues related to rare diseases and orphan drugs.The ultimate objective of RDODJ is to promote the dissemination of research results and scientific discussion among the research community, practitioners, and patient-advocacy organizations.The scope of RDODJ covers the following research topics: Genetics of rare diseases. Non-genetic rare diseases, rare cancers, tropical rare diseases Diagnosis and undiagnosed rare diseases Epidemiology, registries, data bases, and artificial intelligence Pathophysiological mechanism. Biochemistry and cell biology Protein, gene, and cell therapy. Precision medicine and genome editing Drug repurposing and delivery Preclinical translational research. Clinical research and methodology Regulatory and practice guidelines Medico-economic, health policies and services organization and health promotion Social sciences: patients' needs, quality of life.The journal publishes the following types of articles: Original Article, Review, Systematic Review, Meta-analysis, Case Report, Commentary, Editorial, Research Highlight, etc. Congratulations to Dr. Annick Raas-Rothschildand Dr. Brice Korkmaz for Winning the Best Poster Prize at the Rare Diseases Foundation Annual Scientific Conference: COLLOQUE SCIENTIFIQUE ANNUEL 2022 Rare Diseases Foundation Annual Scientific Conference: COLLOQUE SCIENTIFIQUE ANNUEL 2022 was successfully held on May 31, 2022, in Paris, France. Rare Disease and Orphan Drugs Journal supported two Best Poster Awards of the conference. Published on: 14 Jun 2022 The First Editorial Board Meeting of Rare Disease and Orphan Drugs Journal was Successfully Held Online The first Editorial Board meeting of Rare Disease and Orphan Drugs Journal (RDODJ) was successfully held online on March 30, 2022. Published on: 7 Apr 2022 Recruiting 30 Youth Editorial Board Members Worldwide for RDODJ To provide young scholars with an active academic exchange platform for exchanging ideas with each other and influential experts in rare disease and orphan drugs, the Editorial Office of Rare Disease and Orphan Drugs Journal (RDODJ) is constructing an editorial board specifically for young editorial members. Published on: 7 Jan 2022 Welcome Professor Daniel Scherman as the Editor-in-Chief of Rare Disease and Orphan Drugs Journal Today, OAE formally announced the appointment of Professor Daniel Scherman, as the Editor-in-Chief of Rare Disease and Orphan Drugs Journal (RDODJ), a new online journal launched by OAE in March 2021. Published on: 11 Mar 2021 See more Open Archives Portico All published articles will be preserved here permanently: https://www.portico.org/publishers/oae/ Partners Rare Disease and Orphan Drugs Journal ISSN 2771-2893 (Online) [email protected] Navigation About the Journal News Partners follow us Twitter LinkedIn OAE Publishing Inc. 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