Diamond–Blackfan anemia (DBA) is a rare, dominantgenetic disorder characterized by bone marrow malfunction,birth defects, and a predisposition to certaincancers. Infants with DBA usually develop anemia in the firstyear of life, have lower than normal production of red blood cellsin their bone marrow, and have a high risk of developing leukemiaand bone cancer. At the molecular level, DBA is causedby mutations in any one of 10 genes that encode ribosomalproteins. The first-line therapy for DBA is steroid treatment,but more than half of affected children develop resistance tothe drugs and in these cases, treatment is halted. DBA can betreated successfully with bone marrow or stem cell transplantsfrom donors with closely matching immune system markers.Transplants from unrelated donors have significant levels ofcomplications and mortality. While a stem cell transplant from an unaffected donor is currentlythe only cure for DBA, genome-editing technologies mayone day enable the correction of a mutation in a patient’s ownbone marrow stem cells. However, what specific informationwould be needed, beyond a symptom-based diagnosis of DBA,in order to accomplish this?
Diamond–Blackfan anemia (DBA) is a rare, dominant
genetic disorder characterized by bone marrow malfunction,
birth defects, and a predisposition to certain
cancers. Infants with DBA usually develop anemia in the first
year of life, have lower than normal production of red blood cells
in their bone marrow, and have a high risk of developing leukemia
and bone cancer. At the molecular level, DBA is caused
by mutations in any one of 10 genes that encode ribosomal
proteins. The first-line therapy for DBA is steroid treatment,
but more than half of affected children develop resistance to
the drugs and in these cases, treatment is halted. DBA can be
treated successfully with bone marrow or stem cell transplants
from donors with closely matching immune system markers.
Transplants from unrelated donors have significant levels of
complications and mortality.
While a stem cell transplant from an unaffected donor is currently
the only cure for DBA, genome-editing technologies may
one day enable the correction of a mutation in a patient’s own
bone marrow stem cells. However, what specific information
would be needed, beyond a symptom-based diagnosis of DBA,
in order to accomplish this?
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