The genes at those locations, UBASH2A, on chromosome 21, and BACH2, on chromosome 6, are active in immune cells that play key roles in autoimmune disorders such as type 1 diabetes. "Much work remains to be done to discover exactly how these genes may function in molecular pathways involved in diabetes, but the genes are apparently biologically relevant to the disease," said Hakonarson.
Hakonarson expects that increasingly advanced genotyping technology will reveal the remaining undiscovered genes that contribute to type 1 diabetes. "We believe we have captured the vast majority of common gene variants in the disease," he added. "We are now focusing on rare gene variants. As we increase the number of known genes, we will be able to develop better diagnostic tests. Furthermore, as we better understand the gene pathways that give rise to type 1 diabetes, this knowledge may suggest ways to intervene early in life with therapies that target those pathways and prevent the disease from developing."
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| Contact: John Ascenzi Ascenzi@email.chop.edu 267-426-6055 Children's Hospital of Philadelphia Source:Eurekalert |