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.
All content for Newborn Screening SPOTlight Podcast is the property of Dr. Amy Brower and is served directly from their servers
with no modification, redirects, or rehosting. The podcast is not affiliated with or endorsed by Podjoint in any way.
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.
In this episode, listen as Dr. Richard Parad, a Neonatologist and the Director of the Newborn Genomics Program in the Department of Pediatric Newborn Medicine at Brigham and Women’s Hospital, Boston, MA shares his journey to save babies through newborn screening (NBS). Thirty years ago, the discovery of the gene for cystic fibrosis (CF) fueled Dr. Parad’s research in NBS, and led to Massachusetts being one of the first to screen newborns for CF. Dr. Parad has continued to bring innovation to NBS research as the principal investigator in a five-year study of genomic screening in newborns, called BabySeq, and the leader of a new hospital-based supplemental Duchenne Muscular Dystrophy newborn screening program. His interest in integrating genomic sequencing platforms into newborn screening has led to developing pilot programs for newborn genomic screening of cancer predisposition syndromes, such as retinoblastoma, and Menkes disease. We are excited to share Dr. Parad’s efforts and passion for NBS research.
Interview Questions with Dr. Parad:
1. You are a neonatologist. How did you get involved with newborn screening research?
2. You have published on groundbreaking efforts in diverse diseases from cystic fibrosis to congenital heart disease. Were there experiences during your care of babies in the NICU that led you to lead a pilot of newborn screening for Duchenne Muscular Dystrophy?
3. You and your colleagues presented at the NBSTRN Research Summit on the early detection of pediatric cancer predisposition. Can you describe your goals with this effort and how this could advance pediatric cancer research?
4. What is BabySeq?
5. Are you involved in training the next generation of neonatologists and what do you tell them about newborn screening research?
6. You have been a member of the NBSTRN. What role does NBSTRN play? What role could NBSTRN play in your efforts to help ensure that all babies have the healthiest future possible, and screening for diseases for which early intervention may improve outcome?
7. What does NBS research mean to you?
To learn how to get involved in newborn screening research, visit www.nbstrn.org
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.
