Orphanet Journal of Rare Diseases | Home page

Time 2020-10-10 19:07:10

Web Name: Orphanet Journal of Rare Diseases | Home page

WebSite: http://ojrd.biomedcentral.com

ID:77403

Keywords:

of,Journal,Orphanet,OrphanetJournalofRareDiseases,Medicine/PublicHealth,general,

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The official journal of Orphanet, the portal for rare diseases and orphan drugs. As a result of the significant disruption that is being caused by the COVID-19 pandemic we are very aware that many researchers will have difficulty in meeting the timelines associated with our peer review process during normal times. Please do let us know if you need additional time. Our systems will continue to remind you of the original timelines but we intend to be highly flexible at this time. Each year, the last day in February is designated as Rare Disease Day around the world.It was started in 2008 to raise awareness about rare diseases, the research being conducted to treat them, and the patients who live with them.Please come back on Tuesday, February 25th, when we will start presentingour annual Rare Disease Day content, featuring a new article,moving blogs, and a rare disease quiz to test your knowledge on these disorders. Our first Rare Disease Dayblogthis year, is one of therunners-up from Findacure and Medics4RareDiseases鈥?"Student Voice鈥?contest.University of Leicester student Muhummed Shaikhmakes a compelling argument formaking some changes to how medical students are educated (full-length contest entries can be found here). Our third blog from the finalists of Findacure and Medics4RareDiseases鈥?"Student Voice鈥?contest, comes from St Georges, University of London student Sandy Ayoub, who expounds upon how rare diseases can bring a psychological burden (in addition to a physical one), for both patient and caregiver(full-length contest entries can be found here). University of Western Australia student Anneliese Ng describes the different areas of disparity in healthcare among Indigenous and non-Indigenous people in Australia, inanother finalist entry from Findacure and Medics4RareDiseases鈥?"Student Voice鈥?contest(full-length contest entries can be found here). We hope you will take great interest in a Rare Disease DayblogbyBenoit Coulombe and Marie-Soleil Gauthier of the Montr茅al Clinical Research Institute in Montr茅al, Canada, about the 鈥淩are Disease Cell Map鈥?and their Open for Rare website. We are so proud to publish the winner of the 2019 edition ofFindacureandMedics4RareDiseases鈥?/a>鈥淪tudent Voice鈥?essay contest!Cambridge University's Anna-Lucia Koerling presentsa moving account of an experience with a patient living with Neurofibromatosis type 1, what it revealed about physical and mental aspects of rare disease, and how it showed Anna-Lucia what kind of doctor she aspires to be. We thank Anna-Lucia, Findacure, andMedics4RareDiseasesfor their moving contribution to the journal. Our annual Rare Disease Day quiz has returned! We are excited to say our annual Rare Disease Day Quiz has returned to the BMC "On Medicine" blog.It features questions on different disorders, treatments, and rare disorders in popular culture. Now is a great time to test your knowledge of rare diseases and more importantly, learn something new about them. We look forward to hearing how you performed this year! Our new thematic series, guest edited by David Adams, delves into the challenges and opportunities which exist for patients living with undiagnosed rare diseases. We are looking to publish material which speaks to the importance of a diagnosis, of utilizing individual approaches in treating patients, of functional studies, and the best ways to share information. For more information about the series (including submission info), please click here. Francesc Palau, Sant Joan de D茅u Children's Hospital and CIBERER, Spain Authors: Raquel L贸pez-G谩lvez, Mar铆a Eugenia de la Morena-Barrio, Alberto L贸pez-Lera, Monika Pathak, Antonia Mi帽ano, Mercedes Serrano, Delphine Borgel, Vanessa Rold谩n, Vicente Vicente, Jonas Emsley and Javier Corral Content type: Research 9 October 2020 Authors: Hedvig Paulsson Rokke, Nima Sadat Gousheh, Per Westermark, Ole B. Suhr, Intissar Anan, Elisabet Ihse, Bj枚rn Pilebro and Jonas Wixner Content type: Research 8 October 2020 Authors: Krzysztof Piotr Malinowski, Pawe艂 Kawalec, Wojciech Tr膮bka, Christoph Sowada, Guenka Petrova, Manoela Manova, Alexandra Savova, Pero Dragani膰, Juraj Slab媒, Agnes M盲nnik, Krist贸f M谩rky, Zinta Rugaja, Jolanta Gulbinovic, Tomas Tesar and Marian Sorin Paveliu Content type: Research 8 October 2020 Authors: Mengyao Dai, Bing Xiao, Huiwen Zhang, Jun Ye, Wenjuan Qiu, Hong Zhu, Lei Wang, Lili Liang, Xia Zhan, Wenjun Ji, Yu Wang, Yongguo Yu, Xuefan Gu and Lianshu Han Content type: Research 7 October 2020 Authors: Nicole R Tartaglia, Susan Howell, Ashley Sutherland, Rebecca Wilson and Lennie Wilson Content type: Review 11 May 2010 Orphanet Journal of Rare Diseases, in partnership with Research Square, is now offering In Review. Authors choosing this free optional service will be able to: Share their work with fellow researchers to read, comment on, and cite even before publication Showcase their work to funders and others with a citable DOI while it is still under review Track their manuscript - including seeing when reviewers are invited, and when reports are receivedSee what the Orphanet Journal of Rare DiseasesIn Review platform looks like One of the journals in our extended family, Gene Therapy, is featuring a special issue this month, entitled "Spinraza and advanced therapies: a stakeholder special". This issue is a vital resource for all stakeholders in the development of advanced therapies such as Spinraza, which is used to treatspinal muscular atrophy. New Horizons in the Management of ADA-SCID is a free independent online resource, developed by Springer Healthcare IME for healthcare professionals who are presented with ADA-SCID to understand the biology of the disease, know how to screen for it, and be aware of the current and emerging treatments. The resource is supported by an educational grant from Orchard Therapeutics and led by an Editorial Board comprising Andrew Gennery, Fabio Candotti and Robbert Bredius. It offers: Summaries of the latest published articles Interviews with leading experts Webcast on clinical practice Case studies to learn and test knowledge on extra immunological aspects, newborn screening methods and clinical presentation Specialist directory of ADA-SCID specialist centres around the world Coming soon: Video interviews providing insight from the patient/care and nurse Panel discussion webcast on gene therapy and best practice Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports. The Orphanet Knowledgebase is an organized and dynamic collection of information and data on rare diseases and orphan drugs. Added-value data from multiple sources are archived, reviewed, manually annotated, and integrated with other data.Orphanet makes available: An inventory of rare diseases and a classification of diseases elaborated using existing published expert classifications, cross-referenced with other terminologies. Annotations with associated genes, phenotypes and epidemiological data. An encyclopedia of rare diseases in eight languages. An inventory of orphan drugs at all stages of development, from orphan designation to European market authorization. A directory of specialized services, providing information on specialized clinics, medical laboratories, ongoing research projects, clinical trials, registries, networks, technological platforms and patient organizations, in the field of rare diseases, in each of the countries in Orphanet's network. An encyclopedia of recommendations and guidelines for emergency medical care. A bimonthly newsletter, OrphaNews, which gives an overview of scientific and political current affairs in the field of rare diseases and orphan drugs, in English and French. A collection of thematic reports, the Orphanet Reports Series, focusing on overarching themes, directly downloadable from the website. Free access to Orphanet data for research purposes via www.orphadata.org. Your browser needs to have JavaScript enabled to view this timeline Orphanet Journal of Rare Diseases is the official journal of Orphanet, the portal for rare diseases and orphan drugs. Speed81 days to first decision for reviewed manuscripts only67 days to first decision for all manuscripts150days from submission to acceptance25 days from acceptance to publicationCitation Impact3.523-2-year Impact Factor4.029-5-year Impact Factor1.644-Source Normalized Impactper Paper (SNIP)1.275- SCImago Journal Rank (SJR)Usage1,781,388downloads1,485 Altmetric mentions Orphanet Journal of Rare Diseases ISSN: 1750-1172

TAGS:of Journal Orphanet OrphanetJournalofRareDiseases Medicine/PublicHealth general 

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