Rare Disease
A
rare disease
has such a low
prevalence
in a population that a
doctor
in a busy
general practice
would not expect to see more than one case a year. Rare diseases, including those of
genetic
origin, are life-threatening or chronically debilitating diseases which are of such low prevalence that special combined efforts are needed to address them. As a guide, low prevalence is taken as prevalence of
less than 5 per 10,000 in the Community
http://europa.eu.int/comm/health/ph_information/documents/ev20040705_rd05_en.pdf
. Rare diseases will vary from population to population, as a disease that is rare in some populations may be common in another. This is especially true of some genetic and
infectious diseases
. For example,
cystic fibrosis
is a rare genetic disease in most parts of
Asia
but is relatively common in some Eurasian populations. Many
infectious diseases
, such as
tropical diseases
, are rare outside a given geographic area. See also
List of common diseases
.
List of rare diseases
Note:
The links below lead to sections of a list of rare diseases that was originally taken from the
NIH
public domain resource
at http://ord.aspensys.com/diseases.asp.
A
B
C
D
E
F
G
H
I
J
K
L
M
N
O
P
Q
R
S
T
U
V
W
X
Y
Z
See also
Orphan drugs
External links
Rare diseases organizations:
Europe:
Eurordis
-- European Organization for Rare Diseases
EUROCAT: European network of population based registries for congenital anomalies
.
List of projects funded by year
.
Key documents
.
DG SANCO Task Force on Rare Diseases; Two day conference on Rare Diseases 2005
DG RESEARCH, TECHNOLOGICAL DEVELOPMENT AND DEMONSTRATION 6TH FRAMEWORK PROGRAMME (2002-2006): Life sciences, genomics and biotechnology for health
.
Orphanet: database of rare diseases
.
Orphan medicinal products
.
Committee for Orphan Medicinal Products (COMP)
of the
European Agency for the Evaluation of Medicinal Products
(
EMEA
).
USA:
National Organization for Rare Disorders
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