Neonatology in Newborn Screening Research

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?a
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