All Episodes

January 19, 2023 41 mins

Listen to Dr. Wendy Chung, a board-certified clinical and molecular geneticist with over 20 years of experience in human genetic research, share her story.  Her team has led ground-breaking research describing the genetic basis of both rare and common genetic diseases, and the development of precision therapies based on the genetic findings in individuals. She was a part of the two-year pilot of newborn screening for Duchenne Muscular Dystrophy and is currently leading the GUARDIAN STUDY, which has a goal of genome sequencing 100,000 newborns in NYC. She is currently the co-Chair of NBSTRN Steering Committee, which has informed the evolution of the tools and resources for newborn screening research.

Podcast Interview:

  1. Dr. Chung, you are a board-certified clinical and molecular geneticist with 20 years of experience in human genetic research. How did you get involved with newborn screening research?
  2. Your work has led to ground-breaking publications describing the genetic basis of both rare and common genetic disease, and your efforts have often described not only the basis for disease, but the development of precision therapies based on the genetic findings in individuals. You are now leading a new effort, the Guardian Study. Please tell our audience how your years of research led you to conceive of and undertake this effort.
  3. NBSTRN highlights innovative efforts at our annual NBS Research Summit. You presented in 2020 on the "Genomic Causes of the Broken Hearts” Can you describe your goals with this effort and how this could facilitate early treatment and improve health outcomes for infants with congenital heart disease?
  4. Your research team collaborated with ACMG and NBSTRN, and many others in a two-year pilot of newborn screening for Duchenne Muscular Dystrophy. Could you share with our listeners what you and the consortia learned from this pilot and how this might inform future efforts?
  5. In 2019 the NBSTRN Bioethics and Legal Workgroup led a published recommendations to guide pilot studies and included a recommendation to enroll diverse participants. Informed by this work, your team examined parental views about expanded NBS and the use of genomics. Please tell what this effort told you about the role of parental choice in expansion of NBS.
  6. Are you involved in training the next generation of board-certified clinical and molecular geneticist and what do you tell them about newborn screening research?
  7. Thank you for serving as co-chair of the NBSTRN Steering Committee. What are you most excited about? What role could NBSTRN play in your efforts in advancing NBS research?
  8. In addition to funding NBSTRN, NICHD supports a variety of efforts to advance NBS research. CDC and HRSA also fund important efforts to advance and support NBS through work with state NBS programs, policy makers, parents and advocates. Please share your vision of how these key federal partners could work together to accelerate the translation of research findings into public health and clinical care.
  9. What does NBS research mean to you?

 

 

Mark as Played

Advertise With Us

Popular Podcasts

Stuff You Should Know
My Favorite Murder with Karen Kilgariff and Georgia Hardstark

My Favorite Murder with Karen Kilgariff and Georgia Hardstark

My Favorite Murder is a true crime comedy podcast hosted by Karen Kilgariff and Georgia Hardstark. Each week, Karen and Georgia share compelling true crimes and hometown stories from friends and listeners. Since MFM launched in January of 2016, Karen and Georgia have shared their lifelong interest in true crime and have covered stories of infamous serial killers like the Night Stalker, mysterious cold cases, captivating cults, incredible survivor stories and important events from history like the Tulsa race massacre of 1921. My Favorite Murder is part of the Exactly Right podcast network that provides a platform for bold, creative voices to bring to life provocative, entertaining and relatable stories for audiences everywhere. The Exactly Right roster of podcasts covers a variety of topics including historic true crime, comedic interviews and news, science, pop culture and more. Podcasts on the network include Buried Bones with Kate Winkler Dawson and Paul Holes, That's Messed Up: An SVU Podcast, This Podcast Will Kill You, Bananas and more.

Dateline NBC

Dateline NBC

Current and classic episodes, featuring compelling true-crime mysteries, powerful documentaries and in-depth investigations. Follow now to get the latest episodes of Dateline NBC completely free, or subscribe to Dateline Premium for ad-free listening and exclusive bonus content: DatelinePremium.com

Music, radio and podcasts, all free. Listen online or download the iHeart App.

Connect

© 2025 iHeartMedia, Inc.