Public Health Research on Rare Diseases
A special issue of International Journal of Environmental Research and Public Health (ISSN 1660-4601). This special issue belongs to the section "Disabilities".
Deadline for manuscript submissions: closed (10 March 2023) | Viewed by 6806
Special Issue Editors
Interests: rare diseases; health systems and health services research; the research methodology of systematic reviews; medical statistics and network analysis
Interests: rare diseases; patient outcome research; patient and public involvement; child health; family health and wellbeing; complex care needs; genetic disorders; participatory methods; creative methodology; multiple methods; evidence synthesis
Special Issues, Collections and Topics in MDPI journals
Interests: molecular epidemiology of rare and complex disorders; improving the lives of individuals living and working with rare disease(s) with a focus on diagnosis, reporting, information and communication
Special Issue Information
Dear Colleagues,
In Europe, rare diseases are defined as those with incidence that is less than 1 in 2,000, while in the USA they are defined as affecting less than 200,000 individuals. Despite the individual scarcity of rare diseases, these conditions equate to affect approximately 400 million people worldwide. Rare diseases are serious, often life-threatening conditions, with approximately 80% having an underlying genetic component and 30% of children with a rare disease dying before their fifth birthday. Patients with a rare disease often face issues when pursuing a formal diagnosis, undergoing the diagnostic odyssey of rare disease, in which patients can wait, on average, six years to obtain an accurate diagnosis, and within that period they will have received at least one misdiagnosis. Although progress is continuing, with 7–8,000 types of rare diseases now documented, patients with rare diseases are still left without adequately defined care pathways, support or information. Indeed, many patients and family caregivers still report being handed information from ‘Google’. Although such diseases are referred to as being individually rare, they are collectively common, and so pose a significant public health challenge and warrant research.
This Special Issue aims to provide a space for the collection of public health research on rare diseases, empowering those living and working with rare disease. All areas will be considered, including (but not limited to): improving diagnosis, identification of care pathways, living with and management of rare diseases, provision of information and communication amongst healthcare professionals, patients and family caregivers, charity groups and the education of the wider society of these conditions.
Dr. Helen McAneney
Dr. Suja Somanadhan
Prof. Dr. Amy Jayne McKnight
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. International Journal of Environmental Research and Public Health 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 2500 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 disease
- health inequalities
- health and wellbeing
- diagnosis
- care pathway
- orphan drugs
- public health
- epidemiology
- patient registries
- family caregiver
- lived experience
- Patient and public involvement (PPI)
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