Discovering the World of Rare Diseases: 2nd Edition
A special issue of Medicina (ISSN 1648-9144).
Deadline for manuscript submissions: 30 June 2024 | Viewed by 100
Special Issue Editors
Interests: emergency medicine; rare diseases; endocrinology; metabolism; resuscitation
Special Issues, Collections and Topics in MDPI journals
Interests: neurodegenerative disorders; neuromuscular disorders; rare diseases
Special Issues, Collections and Topics in MDPI journals
Special Issue Information
Dear Colleagues,
It is our pleasure to invite you to contribute to the upcoming Special Issue of Medicina, entitled “Discovering the World of Rare Diseases: 2nd Edition”. It is the second volume; in the first volume, a total of 5 papers were published. For more details, please visit: https://www.mdpi.com/journal/medicina/special_issues/Discovering_Rare_Disease.
Rare diseases, although individually uncommon, can affect a significant proportion of the population (5–8% of the global population, with 7.9% of those younger than 25). In Europe, the European Medicines Agency specifies that rare disorders include those with a prevalence of less than 5 in 10,000 people (equivalent to less than 1 in 2,000).
The exact number of rare diseases is variable, ranging from 5,000 to 8,000, of which 80% have a genetic etiology.
A report from the 2005 European Conference on Rare Diseases, evaluating the life expectancy of patients affected with 323 rare diseases, concluded that 25.7% of rare diseases could be considered potentially lethal before 5 years of age, and that a further 36.8% lead to a reduced life expectancy. Conversely, only about a third (37.5%) are associated with a normal lifespan.
We are pleased to invite you and your coworkers to contribute to this Special Issue with original research reports, reviews, or meta-analyses on the topics of rare diseases, evaluating the incidence and prevalence of rare diseases in different countries, diagnostic approaches and delays, standard protocols of care, and national legislation and registries.
Dr. Filippo Manelli
Dr. Maria Sofia Cotelli
Guest Editors
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Medicina is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 1800 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
Keywords
- rare diseases
- incidence
- prevalence
- diagnostic approach
- standards of care
