Fanconi anemia is a rare autosomal recessive genetic disease. Fanconi anemia patients have mutated DNA repair pathways, with the disease being characterized by chromosomal instability, congenital structural defects, bone marrow failure, and an increased risk of cancer. According to the Fanconi Anemia Research Fund, the average life expectancy is 33 years for patients as a result of a lack of treatment options.

Growing evidence points to the role aldehyde metabolism has on disease progression among Fanconi anemia patients. More specifically, recent data suggests Fanconi anemia patients with impaired ALDH2 function experienced accelerated progression to bone marrow failure (Blood, Hira, et al.).

Enhanced ALDH2 activity may have the potential to reduce the overall aldehyde burden on Fanconi anemia patients and could potentially improve the course of the disease.

Fanconi Anemia - Mechanism of Action
Parmar et al., Cell Stem Cell, 2012