Newborn Screening for Spinal Muscular Atrophy (SMA)

08/30/21 • 25 min

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

Interview Questions with Dr. Swoboda:

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

Previous Episode

Exploring the Newborn Screening System from Discovery to Diagnosis

You're listening to the voice of Dr. Jennifer Taylor, a Genomic Scientist at the American College of Medical Genetics and Genomics (ACMG), who is working on several projects at the Newborn Screening Translational Research Network. In this episode, Dr. Taylor explores the newborn screening system from discovery to diagnosis. She will highlight how research and in particular, the discovery of new technologies to screen, diagnose and treat all begin with a newborns in the first days following birth – whether it is a physiological test performed in the newborn nursery or a blood sample, collected and saved as small drops of blood on filter paper.

Next Episode

Duchenne Muscular Dystrophy (DMD)

In this episode, you will hear from Dr. Michele Lloyd-Puryear talk about the diagnosis process and current intervention for Duchenne Muscular Dystrophy also known as DMD. We will learn how parent lay advocacy group plays a role in NBS and NBS research. Whether you’re a parent, health professional, researcher, or advocate, there are many ways to get involved with NBS research

Michele Lloyd-Puryear, MD, PhD, is a pediatrician and geneticist and has held academic appointments and has worked in pediatric clinics at the local and international levels. She is a Fellow of the American Academy of Pediatrics and an Emeritus Member of the American College of Medical Genetics and Genomics. Over her 40-year commitment to infants, children, and mothers, she has made numerous contributions internationally and nationally to programs that have improved and expanded the quality, services, and scope of the NBS and the care for children identified through NBS. Recognition for her work in maternal and child health, genetics services and NBS include awards from HHS, the Association of Public Health Laboratories; the March of Dimes; the Genetic Alliance and the Sickle Cell Disease Association of America.

Interview Questions:

What is Duchenne Muscular Dystrophy (also known as DMD)?
How about babies diagnosed for DMD and what are the current interventions?
You have an MD and a Ph.D. and are trained as a pediatrician and geneticist. How did you get involved with newborn screening research?
What role do parent lay advocacy groups play in newborn screening and NBS research?
How can parents, health professionals, and researchers get involved in NBS research for DMD?
You have played a variety of roles in NBSTRN. What areas do you see NBSTRN can play a role in NBS research?
What does NBS research mean to you?

To learn how to get involved in newborn screening research, visit www.nbstrn.org