Fanconi anemia (FA;MIM# 227650) is a rare autosomal recessive disorder appearing at a frequency of one in 100.000 and affecting approximately 2000 families in the United States. FA is characterized by catastrophic bone marrow failure, often by five years of age, and acute myeloid leukemia (AML). In addition to hematopoietic features, Fanconi Anemia is often accompanied by characteristic congenital abnormalities including slow growth, short stature, microcephaly, and microphthalmia [1]. The most common congenital anomaly in FA is an abnormal or missing thumb and radius, but kidney and reproductive organs are also frequently affected [2], although abnormal blood cell development is the main cause of morbidity and mortality [3, 4]. A gap in our knowledge is the mechanism by which FA leads to developmental anomalies in blood, skeleton, eyes, and other organs.

Agency
National Institute of Health (NIH)
Institute
National Heart, Lung, and Blood Institute (NHLBI)
Type
Research Program Projects (P01)
Project #
5P01HL048546-18
Application #
8375260
Study Section
Heart, Lung, and Blood Initial Review Group (HLBP)
Project Start
Project End
Budget Start
2012-04-01
Budget End
2013-03-31
Support Year
18
Fiscal Year
2012
Total Cost
$296,689
Indirect Cost
$103,976
Name
Oregon Health and Science University
Department
Type
DUNS #
096997515
City
Portland
State
OR
Country
United States
Zip Code
97239
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