U.S. Residents
Rare Diseases
According to the European Union on Public Health, rare diseases are defined as 5 cases per 10,000 people (0.05%).1,2 They are often time life-threatening or chronically debilitating.
The National Institutes of Health (NIH) in the United States defines rare diseases similarly, as those "generally considered to have a prevalence of fewer than 200,000 affected individuals …."3 This translates to a prevalence of roughly 0.07%, considering that the US population is now over 300 million.4
Despite the extremely low incidence and prevalence of such disorders, their impact is profound. For affected patients, many rare disorders result in substantial morbidity and reduced quality of life. They represent a heavy economic burden for patients and their families, and may often lead to death at a very young age. In addition, by virtue of their low prevalence, information on the diagnosis and treatment of rare diseases is often sparse. Thus, expert medical care might not be available and patients do not benefit from the resources and services they need.1
The purpose of this website is to provide health professionals with information on 3 rare diseases which have a common link-alterations in platelet derived growth factor receptor (PDGFR) and cKIT. PDGFR and cKIT are receptors with tyrosine kinase activity and are responsible for cell growth and division. These 3 rare diseases are:
- Myeloproliferative/myelodysplastic disorders
- Hypereosinophilic syndrome (HES)/ Chronic Eosinophilic Leukaemia (CEL)
- Dermatofibrosarcoma protuberans (DFSP)
Click on the options listed for useful information about the diagnosis of these disorders, current treatment options, informational resources, and current clinical trials of investigational therapies.
References :
1. The European Union On-Line. Public Health.Available at: http://europa.eu.int/comm/health/ph_threats/non_com
/rare_diseases_en.htm Accessed February 3, 2009.
2. Rare Cancer Alliance.Available at: http://www.rare-cancer.org/rare-diseases.html. Accessed February 3, 2009.
3. National Institutes of Health. Office of Rare Diseases.
Available at:http://rarediseases.info.nih.gov/RareDiseaseList.aspx?
PageID=1. Accessed February 3, 2009.
4. U.S. Census Bureau. Available at: http://www.census.gov. Accessed February 3, 2009.
