Rare Diseases Symptoms Automatic Extraction
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Gene patents and licensing: case studies prepared for the Secretary's Advisory Committee on Genetics, Health, and Society.
[canavan disease]
Researchers
at
the
Center
for
Public
Genomics
at
Duke
University
analyzed
how
patenting
and
licensing
affect
clinical
access
to
genetic
testing
in
the
United
States
.
The
research
was
requested
by
the
Secretary
's
Advisory
Committee
on
Genetics
,
Health
,
and
Society
.
Conditions
studied
were
breast
and
ovarian
cancers
,
colon
cancers
,
Alzheimer
disease
,
cystic
fibrosis
,
hearing
loss
,
hereditary
hemochromatosis
,
long
QT
syndrome
,
spinocerebellar
ataxia
,
Tay-
Sachs
disease
,
and
Canavan
disease
.
Diseases
Validation
Diseases presenting
"ataxia"
symptom
achondroplasia
adrenomyeloneuropathy
alexander disease
alpha-thalassemia
cadasil
canavan disease
cholangiocarcinoma
cystinuria
dystrophic epidermolysis bullosa
familial mediterranean fever
gm1 gangliosidosis
homocystinuria without methylmalonic aciduria
lamellar ichthyosis
locked-in syndrome
omenn syndrome
phenylketonuria
pyomyositis
pyruvate dehydrogenase deficiency
severe combined immunodeficiency
triple a syndrome
werner syndrome
wolf-hirschhorn syndrome
x-linked adrenoleukodystrophy
zellweger syndrome
This symptom has already been validated