NON- TECHNICAL ABSTRACT 
Non-Technical Abstract 
Fanconi ' s anemia is an inherited disorder that can produce bone 
marrow failure. In addition, some patients with Fanconi ' s anemia 
have physical defects, usually involving the skeleton or kidneys. 
The major problem for most patients is aplastic anemia. In 
aplastic anemia, the blood counts for red blood cells, white 
blood cells, and platelets are low because the bone marrow fails 
to produce these cells. Some patients with Fanconi 's anemia also 
can develop leukemia or cancers in other organs. Many laboratory 
studies have suggested that Fanconi ’ s anemia is due to an 
inherited defect in the ability of cells to repair DNA. 
Recently, the gene for one of the four types of Fanconi ' s anemia, 
type C, has been identified. It is known that this gene is 
defective in patients with Fanconi ' s anemia type C. 
Studies in our laboratory have suggested that Fanconi ' s anemia 
type C may be a good candidate disease for gene therapy. We have 
placed the normal Fanconi ' s anemia type C gene into a retroviral 
vector and introduced the gene into cells, derived from Fanconi ' s 
anemia type C patients. In the laboratory, when we have compared 
cells lines and bone marrow cells from Fanconi ' s anemia patients 
before and after this procedure, we see a return towards normal 
of cell growth, resistance to the chemical agents that harm 
Fanconi ' s anemia cells, and a more normal appearance of the 
cells' chromosomes. Because the cells containing the normal 
Fanconi ' s anemia type C gene grow better, these cells should have 
a competitive advantage compared to unaltered Fanconi ' s anemia 
type C cells. 
The purpose of this research protocol is to test whether we can 
safely introduce the normal Fanconi ' s anemia type C gene into 
stem cells of patients with this disease. Stem cells are the 
cells in the bone marrow and blood that give rise to the white 
cells, platelets, and red cells. We will treat blood cells from 
patients with Fanconi ' s anemia type C using the vector containing 
the Fanconi ' s anemia gene in a test tube and then return these 
cells to patients. If the cells are genetically altered, we 
expect to be able to detect the normal gene in blood and bone 
marrow cells afterwards. We hope that cells that contain the 
Fanconi ' s anemia gene will grow well in the bone marrow, and that 
we will be able to detect normal stem cells in special tissue 
culture studies. If we are successful, we should also be able to 
correct the chromosome abnormality. It may even be possible to 
increase blood counts in patients with Fanconi ' s anemia using 
this procedure. However, it should be clear that the major 
purpose of this protocol is to test the safety of this technique 
and to determine whether we can transfer the Fanconi ' s anemia 
gene successfully. 
In order to obtain sufficient stem cells from patients with 
Fanconi ' s anemia, we will treat each patient with a hematopoietic 
growth factor called G-CSF or granulocyte -colony stimulating 
factor. G-CSF will be given for one week, at the end of which 
time blood cells will be removed by a process , called apheresis 
for treatment with the Fanconi ' s anemia type C gene vector. 
Recombinant DNA Research, Volume 19 
[551] 
