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Rare Diseases
According to the European Union on Public Health, rare diseases are
defined as 5 cases per 10,000 people (.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 .07%, considering that the US population is approaching
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 4 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 4 rare diseases are:
- Dermatofibrosarcoma protuberans (DFSP)
- Hypereosinophilic syndrome (HES)
- Mast cell disease (mastocytosis)
- Myeloproliferative/myelodysplastic disorders
- Chronic myelomonocytic leukemia (CMML)
- Atypical chronic myeloid leukemia (aCML)
- Juvenile myelomonocytic leukemia (JMML)
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:
- The European Union On-Line. Public Health. Available at: http://europa.eu.int/comm/health/ph_threats/non_com/rare_
diseases_en.htm.
Accessed April 25, 2006.
- Rare Cancer Alliance. Available at: http://www.rare-cancer.org/rare-diseases.html.
Accessed April 24, 2006.
- National Institutes of Health. Office of Rare Diseases. Available
at: http://ord.aspensys.com/asp/diseases/diseases.asp. Accessed April
24, 2006.
- U.S. Census Bureau. Available at: http://www.census.gov. Accessed
April 24, 2006.
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