Newborn Screening for Spinal Muscular Atrophy (SMA)

Newborn Screening SPOTlight Podcast

You’re listening to the voice of Dr. Kathy Swoboda, who is the Katherine B. Sims MD Endowed Chair in Neurogenetics and Director of the Neurogenetics Unit in the Center for Genomic Medicine at the Massachusetts General Hospital and Harvard Medical School. Her research and clinical activities are dedicated to the diagnosis and treatment of inherited motor disorders of childhood-onset, with a particular focus on genotype-phenotype studies documenting onset and timing of progressive denervation in infants with Spinal Muscular Atrophy, also known as SMA.

Dr. Swoboda collaborated closely with Cure SMA in helping to obtain critical data necessary to support the addition of SMA to the Newborn Screening Recommended Universal Screening Panel (RUSP), and with the American College of Medical Genetics and Genomics (ACMG) and Newborn Screening Translational Research Network also known as NBSTRN to build tools suitable for use for newborn screening follow-up for infants with SMA.

In this episode, Dr. Swoboda will describe the important research efforts that led to newborn screening for spinal muscular atrophy (SMA) and how different interventions are impacting the lives of newborns with SMA. Dr. Swoboda has played a significant role in getting SMA to be added to the recommended uniform screening panel (RUSP) and her journey from a clinician to a researcher is truly inspiring. So, listen on.

Interview Questions with Dr. Swoboda:

1. Could you tell us what is spinal muscular atrophy (also known as SMA)?
2. You and your research were involved in SMA being recommended to nationwide screening. Can you describe this experience?
3. How have the families you work with been impacted by the addition of SMA to nationwide newborn screening?
4. What is the importance of early identification and treatment by NBS. What are current interventions for individuals with the SMA?
5. Why is NBS research for SMA important?
6. How has NBSTRN helped your research in SMA?
7. What career advice could you give to someone interested in being a clinician-researcher like yourself?
8. What does NBS research mean to you?

To learn more about newborn screening research, visit www.nbstrn.org