News

Australian State Queensland to Screen Newborns for SMA, SCID

The Australian state of Queensland is expanding its newborn screening program to include the genetic conditions spinal muscular atrophy (SMA) and severe combined immunodeficiency (SCID). New testing capabilities are expected to be in place by next May, with the free screening to begin soon after. Queensland, Australia’s second-largest state,…

Brothers With Matching Mullets Embrace a Lighter Side of SMA

The video opens with Blake Shofner driving and saying to his younger brother, Nolan, “Dang Nolan, these roads are terrible.” Nolan Shofner, who has spinal muscular atrophy (SMA) Type 1, replies in a Southern accent with a computerized voice: “My bones are bouncing all over the place.” With…

MicroRNAs in Blood May Predict Spinzara Response in Type 1 Patients

MicroRNAs isolated from the bloodstream of patients with infant-onset spinal muscular atrophy (SMA) type 1 before treatment were related to functional responses to Spinraza (nusinersen) after six months of therapy, a study suggested. Researchers said these microRNAs may be potential biomarkers to predict or monitor patients’ responses to…

Manitoba Newborn Screening Program Expands to Include SMA

The newborn screening program at Cadham Provincial Laboratory in Manitoba, Canada, is expanding to include spinal muscular atrophy (SMA), according to an announcement from Audrey Gordon, the province’s health minister. “Early diagnosis is the key to improving outcomes for babies born with metabolic, endocrine or genetic disorders such as…