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North Carolina Newborn Exome Sequencing for Universal Screening (NC NEXUS) and Early Check Project

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Manage episode 367542026 series 2932652
Content provided by Dr. Kee Chan and Dr. Amy Brower, Dr. Kee Chan, and Dr. Amy Brower. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Dr. Kee Chan and Dr. Amy Brower, Dr. Kee Chan, and Dr. Amy Brower or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://ro.player.fm/legal.

Today, on the Newborn Screening SPOTlight podcast, we are thrilled to have Dr. Cynthia Powell join us to share her vision of genomic sequencing in newborn and her experience as the Past Chair of the U.S. federal Advisory Committee on Heritable Disorders in Newborns and Children. Dr. Powell is a Professor of Pediatrics and Genetics at the University of North Carolina at Chapel Hill School of Medicine, where she sees patients, teaches students, residents and fellows, and participates in research. She is a board-certified clinical geneticist, cytogeneticist, pediatrician and genetic counselor. She completed her pediatric residency at Children’s National Medical Center in Washington, D.C. and medical genetics fellowship at Children’s National Medical Center and the National Institutes of Health.

She is the program director of the UNC Hospitals Medical Genetics and Genomics Residency Program. She is the immediate past Chair of the U.S. federal Advisory Committee on Heritable Disorders in Newborns and Children and a member of the Board of Directors of the American College of Medical Genetics and Genomics.

She is Past President of the Association of Professors of Human and Medical Genetics and the American Board of Medical Genetics and Genomics. She serves on the North Carolina Newborn Screening Advisory Committee and the North Carolina Genetics and Genomics Advisory Committee. Her research interests include newborn screening, genomics, birth defects and genetic syndromes. She led the North Carolina Newborn Exome Sequencing for Universal Screening (NC NEXUS) project, a five year project funded by NIH investigating the utility of next generation sequencing in newborns.

She is the UNC site principal investigator for the Early Check project, a voluntary newborn screening research project in North Carolina that offers parents the opportunity to have their infant screened for conditions that are not yet part of standard public health newborn screening. She currently serves on the NBSTRN Steering Committee and has contributed to the development of tools and resources for newborn screening research. Dr. Powell wears many hats in her different roles in medical genetics and newborn screening. You will be inspired by her story of dedicated commitment in improving the lives of children.

  continue reading

27 episoade

Artwork
iconDistribuie
 
Manage episode 367542026 series 2932652
Content provided by Dr. Kee Chan and Dr. Amy Brower, Dr. Kee Chan, and Dr. Amy Brower. All podcast content including episodes, graphics, and podcast descriptions are uploaded and provided directly by Dr. Kee Chan and Dr. Amy Brower, Dr. Kee Chan, and Dr. Amy Brower or their podcast platform partner. If you believe someone is using your copyrighted work without your permission, you can follow the process outlined here https://ro.player.fm/legal.

Today, on the Newborn Screening SPOTlight podcast, we are thrilled to have Dr. Cynthia Powell join us to share her vision of genomic sequencing in newborn and her experience as the Past Chair of the U.S. federal Advisory Committee on Heritable Disorders in Newborns and Children. Dr. Powell is a Professor of Pediatrics and Genetics at the University of North Carolina at Chapel Hill School of Medicine, where she sees patients, teaches students, residents and fellows, and participates in research. She is a board-certified clinical geneticist, cytogeneticist, pediatrician and genetic counselor. She completed her pediatric residency at Children’s National Medical Center in Washington, D.C. and medical genetics fellowship at Children’s National Medical Center and the National Institutes of Health.

She is the program director of the UNC Hospitals Medical Genetics and Genomics Residency Program. She is the immediate past Chair of the U.S. federal Advisory Committee on Heritable Disorders in Newborns and Children and a member of the Board of Directors of the American College of Medical Genetics and Genomics.

She is Past President of the Association of Professors of Human and Medical Genetics and the American Board of Medical Genetics and Genomics. She serves on the North Carolina Newborn Screening Advisory Committee and the North Carolina Genetics and Genomics Advisory Committee. Her research interests include newborn screening, genomics, birth defects and genetic syndromes. She led the North Carolina Newborn Exome Sequencing for Universal Screening (NC NEXUS) project, a five year project funded by NIH investigating the utility of next generation sequencing in newborns.

She is the UNC site principal investigator for the Early Check project, a voluntary newborn screening research project in North Carolina that offers parents the opportunity to have their infant screened for conditions that are not yet part of standard public health newborn screening. She currently serves on the NBSTRN Steering Committee and has contributed to the development of tools and resources for newborn screening research. Dr. Powell wears many hats in her different roles in medical genetics and newborn screening. You will be inspired by her story of dedicated commitment in improving the lives of children.

  continue reading

27 episoade

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