EPISODE · Jul 27, 2022 · 29 MIN
Newborn Screening Pilot Studies
from Newborn Screening SPOTlight Podcast · host Dr. Kee Chan and Dr. Amy Brower
Today on the Newborn SPOTlight we welcome a national leader in newborn screening research and clinical care, Dr. William Wilcox. Dr. Wilcox is the medical director of the Emory Lysosomal Storage Disease Center and Genetic Clinical Trials Center in Georgia. He was a medical graduate of the UCLA School of Medicine and completed his residency in Pediatrics at UCLA and a genetics fellowship in the UCLA Intercampus Medical Genetics Training Program. As a clinician, Dr. Wilcox also leads clinical trials to discover new treatments for both metabolic and skeletal diseases. Amazingly he has published more than 140 peer-reviewed articles and serves as a member of the Georgia Newborn Screening Advisory Committee. Dr. Wilcox and his team at Emory have conducted groundbreaking efforts and screened over one million newborns to help to increase the number of conditions that are included in newborn screening in the United States. Join us as we hear from a leader in newborn screening research Dr. Wilcox and listen as he shares what newborn screening research means to him. Interview Questions: You are a pediatrician with a specialty in genetics and you have led many Your research has focused on the clinical description and molecular pathogenesis of conditions that are part of or candidates for newborn screening. How did you get involved with newborn screening research? You’re currently the medical director of the Emory Lysosomal Storage Disease Center and Genetic Clinical Trials Center. You are the lead researcher, called the Principal Investigator or PI, for the NICHD funded pilot studies for several conditions. This effort that you and your team at Emory lead in Georgia makes up one of three states that conduct pilots. Can you tell us the goals of this NICHD program, explain where it fits as conditions move from candidates to nationwide screening? As a clinician you care for newborns, children, and their families. What role do they play in newborn screening research and pilots? Through the years parents and advocates have played key roles in advancing NBS research and practice. You have been on advisory committees, local, state, and national. Do you have any stories you’d like to share with our audience about your own advocacy and that of your patients and families? Are you involved in training the next generation of pediatricians and what do you tell them about newborn screening research? You have been a member of the NBSTRN since the beginning of 2008 as a member of the Steering Committee. Can you describe your experience with the NBSTRN over the past decade? What other support and resources do you think could help facilitate the implementation of statewide pilot studies? What does NBS research mean to you? To learn more about the Georgia Newborn Screening Program, visit https://dph.georgia.gov/NBS Become a member of NBSTRN by signing up for a free account at www.nbstrn.org
What this episode covers
Today on the Newborn SPOTlight we welcome a national leader in newborn screening research and clinical care, Dr. William Wilcox. Dr. Wilcox is the medical director of the Emory Lysosomal Storage Disease Center and Genetic Clinical Trials Center in Georgia. He was a medical graduate of the UCLA School of Medicine and completed his residency in Pediatrics at UCLA and a genetics fellowship in the UCLA Intercampus Medical Genetics Training Program. As a clinician, Dr. Wilcox also leads clinical trials to discover new treatments for both metabolic and skeletal diseases. Amazingly he has published more than 140 peer-reviewed articles, and serves as a member of the Georgia Newborn Screening Advisory Committee. Dr. Wilcox and his team at Emory have conducted groundbreaking efforts and screened over one million newborns to help to increase the number of conditions that are included in newborn screening in the United States. Join us as we hear from a leader in newborn screening research Dr. Wilcox and listen as he shares what newborn screening research means to him. Interview Questions: You are a pediatrician with a specialty in genetics and you have led many Your research has focused on the clinical description and molecular pathogenesis of conditions that are part of or candidates for newborn screening. How did you get involved with newborn screening research? You’re currently the medical director of the Emory Lysosomal Storage Disease Center and Genetic Clinical Trials Center. You are the lead researcher, called the Principal Investigator or PI, for the NICHD funded pilot studies for several conditions. This effort that you and your team at Emory lead in Georgia makes up one of three states that conduct pilots. Can you tell us the goals of this NICHD program, explain where it fits as conditions move from candidates to nationwide screening? As a clinician you care for newborns, children, and their families. What role do they play in newborn screening research and pilots? Through the years parents and advocates have played key roles in advancing NBS research and practice. You have been on advisory committees, local, state, and national. Do you have any stories you’d like to share with our audience about your own advocacy and that of your patients and families? Are you involved in training the next generation of pediatricians and what do you tell them about newborn screening research? You have been a member of the NBSTRN since the beginning of 2008 as a member of the Steering Committee. Can you describe your experience with the NBSTRN over the past decade? What other support and resources do you think could help facilitate the implementation of statewide pilot studies? What does NBS research mean to you? To learn more about the Georgia Newborn Screening Program, visit https://dph.georgia.gov/NBS Become a member of NBSTRN by signing up for a free account at www.nbstrn.org
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Newborn Screening Pilot Studies
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