Rare Diseases

Rare diseases are characterized by a good diversity of symptoms and signs that change not only from disease to disease but also from patient to patient affected by an equivalent disease. Due to the low prevalence of every disease, medical expertise is rare, knowledge is scarce, care offerings inadequate and research limited. Despite their great overall number, rare disease patients are the orphans of health systems, often denied diagnosis, treatment, and therefore the benefits of research. Relatively common symptoms can hide underlying rare diseases resulting in misdiagnosis and delaying treatment. Typically disabling, the quality of life of a person living with a rare disease is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.

Related Associations of Rare Diseases Research:

Alzheimer's disease Organizations, Ann & Robert H. Lurie Children’s Hospital, Birmingham children’s Hospital, Boston Children’s Hospital, Canadian Organization for Rare Diseases, Chicago Rare Disease Foundation, Children’s hospital of Pittsburgh, National Alliances for Rare Diseases, National Institute of Health (NIH), National Organization for Rare Diseases, NDC Medicine, Rare Diseases Patient Association Funding, Rare Diseases South Africa, Rare Diseases Translational Research Collaboration.

 


 


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