Newly identified gene mutation causes severe form of Fanconi anemia
· News-MedicalFanconi anemia is an aggressive, life-threatening disorder. Most individuals living with this rare genetic condition, characterized by bone marrow failure and cancer predisposition, survive into adulthood only with bone marrow transplantation and regular cancer screening. But a new study demonstrates that mutations in one particular gene in the Fanconi anemia pathway result in an even more severe form of the disorder-and that many fetuses with this mutation do not survive to birth.
From patient to pathway
"Sometimes you start with a pathway and find mutations in patients, but other times you start with the patients and define the pathway from there," Smogorzewska says. "Fanconi anemia has often been the latter; most Fanconi anemia genes were identified after studying patients."
Collaborating in rare disease research
"The Foundation makes a lot of the important Fanconi anemia research possible," Smogorzewska says. "Beyond the advocacy and grants, the symposium brings families, patients, clinicians, and researchers together and allows us to collaborate, compete and, in this case, co-publish."
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