Early diagnosis and treatment of cystic fibrosis can make all the difference in a child’s quality of life. Yet current screening tests can take up to two weeks, and may miss the disease in infants affected by rare C.F. mutations.
Now, Stanford researchers have come up with a new way to extract and make copies of the C.F. gene, using the dried blood spots on cards that are collected routinely from newborns. The technique, described in February in The Journal of Molecular Diagnostics, is twice as fast as current methods and much better at catching rare mutations that affect nonwhite populations.
The study’s senior author, Curt Scharfe, MD, PhD, an associate professor at Yale, helped develop the test while working as a senior scientist at the Stanford Genome Technology Center.