Myriad Genetics (MYGN) announced it has added two genes, F8 and FXN, to the Foresight Carrier Screen Universal Plus Panel. Variants in the F8 gene have been linked to hemophilia A. Hemophilia A is a hereditary bleeding disorder, which results in the blood not clotting properly. As a result, patients may experience prolonged bleeding, both internally and externally, after injuries or even spontaneously. Treatments could include gene therapy, which would deliver a working copy of the faulty gene into the liver cells with instructions to produce the missing clotting factor, according to the American Society of Gene & Cell Therapy. Friedreich’s ataxia is a rare, inherited neurodegenerative disease caused by mutations in the FXN gene, which leads to a deficiency in the protein frataxin. Patients with FA can develop motor weakness and sensory loss, leading to difficulty in walking, heart disease, loss of sensation in the arms and legs, and other symptoms.2 According to the National Institute of Neurological Disorders and Stroke, there is no cure, but in 2023, the US Food and Drug Administration approved the first medication, called omaveloxolone, to treat FA in individuals 16 years of age or older.
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