This podcast is about the advancement of rare disease research told by health professionals, researchers, parents and advocates. This podcast is for you to learn how newborn screening research saves the lives of babies every day through discoveries of new technologies and treatments. You will hear stories from experts who treat babies, the families who care for them, and the researchers who make it all happen. We are your co-hosts, Drs. Kee Chan and Amy Brower.
We are from the Newborn Screening Translational Research Network (also known NBSTRN). Our work is supported by one of the institutes at the National Institutes of Health in Bethesda Maryland called the Eunice Kennedy Shriver National Institute of Child Health and Human Development (also known as NICHD). Dr. Chan and I are from the American College of Medical Genetics and Genomics (also known as ACMG) and ACMG leads the NBSTRN. Screening babies saves lives every day, and research advances newborn screening by developing new technologies to screen, diagnose and treat. NBSTRN helps accelerate research by creating tools, resources and expertise for researchers, doctors, families, patients and advocates.
To learn how you can help advance newborn research, advocate for rare disease screening and treatment, and learn about important discoveries, become a member of the Newborn Screening Translational Research Network by visiting our website at www.nbstrn.org.
Thank you for listening to this episode of Newborn Screening SPOTlight. If you like our podcast, please subscribe and share an episode with your colleagues, friends, and family.
\Get involved! Stay informed! Help us advance discoveries! Together, let’s increase the impact of newborn screening research by listening to your stories.
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This podcast is about the advancement of rare disease research told by health professionals, researchers, parents and advocates. This podcast is for you to learn how newborn screening research saves the lives of babies every day through discoveries of new technologies and treatments. You will hear stories from experts who treat babies, the families who care for them, and the researchers who make it all happen. We are your co-hosts, Drs. Kee Chan and Amy Brower.
We are from the Newborn Screening Translational Research Network (also known NBSTRN). Our work is supported by one of the institutes at the National Institutes of Health in Bethesda Maryland called the Eunice Kennedy Shriver National Institute of Child Health and Human Development (also known as NICHD). Dr. Chan and I are from the American College of Medical Genetics and Genomics (also known as ACMG) and ACMG leads the NBSTRN. Screening babies saves lives every day, and research advances newborn screening by developing new technologies to screen, diagnose and treat. NBSTRN helps accelerate research by creating tools, resources and expertise for researchers, doctors, families, patients and advocates.
To learn how you can help advance newborn research, advocate for rare disease screening and treatment, and learn about important discoveries, become a member of the Newborn Screening Translational Research Network by visiting our website at www.nbstrn.org.
Thank you for listening to this episode of Newborn Screening SPOTlight. If you like our podcast, please subscribe and share an episode with your colleagues, friends, and family.
\Get involved! Stay informed! Help us advance discoveries! Together, let’s increase the impact of newborn screening research by listening to your stories.
A Clinical and Molecular Geneticist Impacting Newborn Screening Research in Congenital Heart Disease, Duchenne Muscular Dystrophy and the GUARDIAN study
Newborn Screening SPOTlight Podcast
41 minutes 14 seconds
2 years ago
A Clinical and Molecular Geneticist Impacting Newborn Screening Research in Congenital Heart Disease, Duchenne Muscular Dystrophy and the GUARDIAN study
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?
Newborn Screening SPOTlight Podcast
This podcast is about the advancement of rare disease research told by health professionals, researchers, parents and advocates. This podcast is for you to learn how newborn screening research saves the lives of babies every day through discoveries of new technologies and treatments. You will hear stories from experts who treat babies, the families who care for them, and the researchers who make it all happen. We are your co-hosts, Drs. Kee Chan and Amy Brower.
We are from the Newborn Screening Translational Research Network (also known NBSTRN). Our work is supported by one of the institutes at the National Institutes of Health in Bethesda Maryland called the Eunice Kennedy Shriver National Institute of Child Health and Human Development (also known as NICHD). Dr. Chan and I are from the American College of Medical Genetics and Genomics (also known as ACMG) and ACMG leads the NBSTRN. Screening babies saves lives every day, and research advances newborn screening by developing new technologies to screen, diagnose and treat. NBSTRN helps accelerate research by creating tools, resources and expertise for researchers, doctors, families, patients and advocates.
To learn how you can help advance newborn research, advocate for rare disease screening and treatment, and learn about important discoveries, become a member of the Newborn Screening Translational Research Network by visiting our website at www.nbstrn.org.
Thank you for listening to this episode of Newborn Screening SPOTlight. If you like our podcast, please subscribe and share an episode with your colleagues, friends, and family.
\Get involved! Stay informed! Help us advance discoveries! Together, let’s increase the impact of newborn screening research by listening to your stories.
