Duchenne Muscular Dystrophy (DMD)

Newborn Screening SPOTlight Podcast

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:

1. What is Duchenne Muscular Dystrophy (also known as DMD)?
2. How about babies diagnosed for DMD and what are the current interventions?
3. 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?
4. What role do parent lay advocacy groups play in newborn screening and NBS research?
5. How can parents, health professionals, and researchers get involved in NBS research for DMD?
6. You have played a variety of roles in NBSTRN. What areas do you see NBSTRN can play a role in NBS research?
7. What does NBS research mean to you?

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

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