Current Situation and Distribution of Rare Diseases: Challenges, Prevention, Healthcare and Effects
A special issue of International Journal of Environmental Research and Public Health (ISSN 1660-4601). This special issue belongs to the section "Environmental Health".
Deadline for manuscript submissions: closed (30 June 2018) | Viewed by 47814
2. Departamento de Medicina Preventiva y Salud Pública, Universitat de València, Av. Blasco Ibañez, 17, 46010 Valencia, Spain
3. Rare Diseases Research Area, FISABIO-Public Health, Avd. Catalunya, 21, 46020 Valencia, Spain
Interests: rare diseases; diagnosis delay; treatment access; prevention; registries; rare cancers; technological platforms; rare diseases epidemiology; public health surveillance
Special Issues, Collections and Topics in MDPI journals
Interests: rare diseases; orphan drugs; diagnosis delay; reference networks; therapy development; treatment access; prevention; clinical genetics; registries; patients interest; quality of life; rare cancers; technological platforms; economic impact; rare diseases epidemiology
Rare diseases are one of the most challenging issues for healthcare, prevention and research. Patients and their families are expecting for new treatments and more information about their diseases.
Diagnosis is one of the most important issues. There is a critical delay for most cases or there are not appropriate diagnosis techniques to use. Clinical genetics is a clue factor to achieve good diagnosis and good medical care, but healthcare organization is also relevant, inside of a country or at a continental scale. Rare diseases reference networks, like in the European Union, will play an important role in the future.
Important efforts have been made to develop new therapies for rare diseases but there is still a long way to go.
Information, monitoring and surveillance are relevant issues in the rare diseases field. The national and regional strategies and plans for rare diseases are including registries and other information and monitoring tools to increase the knowledge and rare diseases monitoring. Technical, ethical, codification issues and data protection aspects are now being tackled in many countries.
We encourage the rare diseases researchers, clinicians, epidemiologists and patients organizations to join us in this Special Issue about rare diseases and its challenges.
Dr. Óscar Zurriaga
Dr. Antoni Montserrat-Moliner
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- Orphan drug
- Diagnosis delay
- Reference networks
- Rare diseases registries
- Rare cancers
- Clinical genetics
- Patients interests
- Quality of life