Although the term ‘rare disease’ suggests a comparatively small impact, it has been estimated that around one in 15 people are affected by such a disorder worldwide. Between 5000 and 8000 rare diseases have been identified to date, with each disorder affecting one person in 2000 or less, according to the WHO definition. Many are genetic disorders, but the field also encompasses other areas, for example rare infectious diseases. Many of these disorders are chronic, progressive, life-threatening illnesses, with many affected from birth or early childhood.
In recent years, increased attention has been given to rare disease research, with funding for the development of innovative treatments and the establishment of research groups and networks. However, challenges remain, many of which are unique to rare diseases – limited numbers of experts in a particular disorder; the development of treatments where the underlying disease pathophysiology may not be fully understood; clinical study design with limited numbers of patients, many of them children; and diagnosis of a disease clinicians may not be previously aware of.
Patient advocacy is a vital aspect of the rare disease landscape, and such groups work with scientists and governments in many ways to try and overcome some of the challenges mentioned above.
The aim of Future Rare Diseases is to provide a fully Open Access resource for all those working in the field, including scientists, clinicians, policy makers and patient advocates, to share knowledge and provide increased exposure to the vital work being carried out in the research into rare diseases and the development of treatments.
Key topics covered include:
- All rare and ultra-rare diseases, including, but not limited to:
- Auto-immune disorders; Cancers; Cardiovascular disorders; Genetic disorders; Infectious diseases; Metabolic disorders; Neurological disorders; Respiratory disorders; Urological disorders
- Disease mechanisms
- Epidemiology
- Screening
- Clinical manifestations and diagnosis of disease
- Orphan drug development, research and approval
- Clinical study design and methodology
- Pharmacogenomics
- Gene therapy and regenerative medicine
- Preconception and antenatal care
- Therapeutic options and treatment guidelines
- Pharmacoeconomics, outcomes research and quality of life
- Palliative care
- Ethical, legal, policy and social issues
Unsolicited article proposals are welcomed and authors are required to comply fully with the journal's Disclosure & Conflict of Interest Policy as well as major publishing guidelines, including ICMJE and GPP3.
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