Mei Baker, MD, FACMG, Awarded Newborn Screening Grant from Cure SMA

Mei Baker, MD, FACMG, was recently awarded a one-year grant in the amount of $211,247, for her project entitled, “A State-wide Spinal Muscular Atrophy Newborn Screening Pilot in Wisconsin.” This funding, from Cure SMA (Spinal Muscular Atrophy) will support an SMA Newborn Screening (NBS) pilot project in Wisconsin to implement a state-wide NBS for SMA using a multiplexing Real-time PCR technology to incorporate SMA identification into an ongoing severe combined immunodeficiency (SCID) screening process. Spinal muscular atrophy (SMA) is one of the most common lethal recessive genetic conditions, with an incidence of 1 in 10,000 births. Further objectives of this project are to establish a confirmatory testing and follow-up strategy that will ensure timely evaluation, confirmation, and treatment; explore psychosocial issues associated with the implementation of newborn screening for SMA in Wisconsin; and establish a follow-up system to track SMA screening positive cases, facilitate data sharing, and ensure project completion. Dr. Baker will work with UW co-investigators Meredith Schultz, MD (Neurology) and Audrey Tluczek, PhD, RN, FAAN (Nursing), as well as Matthew Harmelink, MD from the Medical College of Wisconsin to undertake this pilot program. Congratulations!