According to a story from Check Orphan, a group of scientists from Stanford have begun the process of developing a new test that could help patients with rare Fanconi anemia and other similar conditions. Currently, there are no approved drugs that are capable of treating the root cause of Fanconi anemia. However, the new test, which will measure aldehyde levels, could be a major step in the right direction.
About Fanconi Anemia
Fanconi anemia is a genetic disease that results in a reduced ability to repair damage to DNA. The disease is the result of a genetic defect in the proteins that are most responsible for the repair of DNA. This progressive disease usually results in bone marrow failure, which means that patients lose the ability to produce blood cells. Other characteristics of Fanconi anemia include physical abnormalities, such as changes to the thumbs, short stature, hyperpigmentation, unusual facial features, decreased fertility, and changes to the kidneys. Most patients also develop cancer at some point in their lives; the most common type is acute myelogenous leukemia. A stem cell transplant can help resolve the anemia, but the heightened risk of cancer remains. Many patients do not survive into adulthood. To learn more about Fanconi anemia, click here.
About Aldehydes
Researchers have determined that a critical biomarker in the disease is the level of aldehydes that are in the blood. Currently, there is no real way to measure aldehydes, which is why this new test is of such critical importance. Before a potential treatment for Fanconi anemia can be developed and tested, a method for measuring aldehydes must be available. Aldehydes are important in this disease because they are a major cause of DNA damage. Normal blood tests are not capable of detecting aldehydes.
The Aldehyde Test
The new test is called Darkzone, which contains a chemical that glows very brightly depending on the concentration of aldehydes. However, in order to work blood must be drawn with a mechanism that creates a sealed vacuum. This is to prevent any aldehydes from escaping, as they can evaporate very easily. The team are looking at modifying an existing device that draws blood through the skin with very small needles. Darkzone could play a major role in developing treatments for Fanconi anemia and cancers that have been linked to aldehydes.
