Shows
Newborn Screening SPOTlight PodcastInnovative Blood and Marrow Transplant & Gene Therapy for Rare DiseasesDr. Paul Orchard is the Medical Director of the Inherited Metabolic and Storage Disease Program and a Professor in the Department of Pediatrics in the Division of Blood and Marrow Transplant & Cellular Therapy (BMT & CT) at the University of Minnesota. He is interested in using hematopoietic stem cell transplantation (HSCT) and other cell therapies, including gene therapy, to improve outcomes. In addition to his clinical work with patients with inherited metabolic diseases, Dr. Orchard is engaged in research designed to identify strategies that enhance the delivery of enzymes to the brain and the peripheral nervous system for patients who...2023-09-2535 minNewborn Screening SPOTlight PodcastLifting the Voices of the Community in the Rare Disease World Through StorytellingIf you need a boost of inspiration, a bit of laughter, and a lot of intention, listen to our special guest on the Newborn Screening SPOTlight podcast Effie Parks, who transformed her experiences raising a son with a rare disease to helping others by sharing their stories on her podcast, Once Upon a Gene. The best way to describe Effie may be as the rare disease parent’s best friend… and greatest resource!
She was born in Montana, where she was raised with her 12 siblings. After moving to Washington and marrying her husband, they were blessed...2023-08-3141 minNewborn Screening SPOTlight PodcastThe Role of Medical Genetics in Newborn Screening and Genome SequencingJoin us on the Newborn Screening SPOTlight podcast with Dr. Jerry Vockley, who is a Professor of Human Genetics, the Graduate School of Public Health, Cleveland Family Endowed Pediatric Research, School of Medicine, Chief of Genetic and Genomic Medicine, UPMC Children’s Hospital of Pittsburgh, and Director of the Center for Rare Disease Therapy, UPMC Children’s Hospital of Pittsburgh.
Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His current research focuses on mitochondrial energy metabolism, novel therapies for disorders of fatty acid oxidation and amino acid metabo...2023-08-0150 minNewborn Screening SPOTlight PodcastNorth Carolina Newborn Exome Sequencing for Universal Screening (NC NEXUS) and Early Check ProjectToday, 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 Na...2023-06-3059 minNewborn Screening SPOTlight PodcastLiving with Phenylketonuria (PKU) and Caring for Patients with PKUThis episode features Brittany Holmes who is a nurse practitioner in the Metabolism Program in the Genetics & Genomics division at Boston Children’s Hospital. She is an experienced provider who specializes in caring for patients with inborn errors of metabolism. She serves on the Board of Directors for the National PKU Alliance, the Newborn Screening Translational Research Network (NBSTRN) Steering Committee, and the Rare Disease Clinical Research Network (RDCRN) PHEEFREE Consortium External Advisory Board.
She received her Bachelor of Science at Merrimack College, and Master of Science in Nursing from Simmons University in Boston, and is beginning the...2023-06-0636 minNewborn Screening SPOTlight PodcastAdvocacy Work for Newborn Screening Research and Treatment for Sickle Cell DiseaseEvery state screens for sickle cell disease and researchers are working with industry and advocates to develop new ways to improve the health outcomes of individuals living with sickle cell disease.
Today, on the Newborn Screening SPOTlight podcast, we welcome Yvonne Carroll, RN, JD who is trained as a researcher, a lawyer, a nurse, and a patient advocate and is currently the Director of Patient Services in the Department of Hematology at St. Jude Children’s Research Hospital in Memphis, Tennessee. She has over two decades of dedicated commitment to advancing the management of care, advocacy work for...2023-04-3054 minNewborn Screening SPOTlight PodcastComplementing Newborn Screening with Rapid Whole Genome Sequencing (rWGS) for Rare Diseases in InfantsWe are thrilled to have Dr. Stephen Kingsmore, a dedicated physician, researcher, an inventor, and who is the currently the President/CEO of Rady Children's Institute for Genomic Medicine in San Diego, California. In this podcast, you will not only learn what drives Dr. Kingsmore’s purpose to improve the lives of newborns and to prevent avoidable and unnecessary deaths due to late diagnosis of rare genetic condition, but also his challenges in clinical practice and research in making his dream of a learning healthcare system using genomic medicine a reality globally. Among his achievements, Dr. Kingsmore pioneered the deve...2023-03-1038 minNewborn Screening SPOTlight PodcastAdvancing Newborn Screening Research Through Rare Disease Awareness, Support and AdvocacyFor the rare disease community, there is a common motto “alone we are rare, together we are strong”. Advocacy organizations play this important role in connecting families of rare disease , amplifying their voices and helping to improve health outcomes for people living with rare diseases. Today’s podcast guest is Annie Kennedy who has over three decades of experience in advocacy work. A veteran leader in the rare disease patient advocacy movement, Annie joined the EveryLife Foundation in 2018, where she led the National Economic Burden of Rare Disease study, the development of the ICD Code Roadmap, and the community-driven Guide...2023-02-2848 minNewborn Screening SPOTlight PodcastA Clinical and Molecular Geneticist Impacting Newborn Screening Research in Congenital Heart Disease, Duchenne Muscular Dystrophy and the GUARDIAN studyListen 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 o...2023-01-2041 minNewborn Screening SPOTlight PodcastFamily Engagement, Diversity, Equity, and Inclusion (DEI) Access in Newborn Screening ResearchFamily engagement and rare disease advocacy drive the innovations and accelerate the discoveries that advance newborn screening research. Today, we are excited to have Natasha Bonhomme, a health communications strategy and family engagement expert who has led ground-breaking initiatives to empower individuals, families, and their communities to transform health care. Natasha is currently the Chief Strategy Officer for Genetic Alliance and the founder of Expecting Health, a national effort to create outreach strategies and deliver educational programming to diverse communities, with a special emphasis on maternal and child health issues. A decade ago, Natasha and her team launched Baby’s Fi...2022-12-2043 minNewborn Screening SPOTlight PodcastGenetic Counseling & Diversity, Equity and Inclusion (DEI) Justice in Newborn Screening Research and WorkforceWelcome to the Newborn Screening Spotlight! Today’s episode highlights the important role genetic counselors play in the diagnosis, care, and lifelong management of newborns diagnosed with a disease through newborn screening. Genetic counseling helps families better understand available treatments and resources, and our guest, Sylvia Mann is a genetic counselor who wears many hats, three to be exact, in her roles as the Supervisor of the Genomics Section of the State of Hawaii Department of Health, the Co-Director of the University of Hawaii Pacific Basin Telehealth Resource Center, and the Project Director of the Western States Regional Genetics Ne...2022-11-2350 minNewborn Screening SPOTlight PodcastResearch and Advocacy for Newborn Screening for Mucopolysaccharidosis II (MPS II/Hunter Syndrome)Today, we are joined by Dr. Zhanzhi Hu (aka Mike) who is the co-founder and President of Project GUARDIAN, a nonprofit organization with the mission of advancing genomics-based newborn screening where they have a mission of genome sequencing 100,000 babies in New York City. His dedication and motivation to ensuring all babies have the best chance to live a healthy life stem from his own experience as a parent of two children with a rare disorder called MPS II and also known as Hunter Syndrome. He is an ardent advocate for newborn screening and works tirelessly to bridge the gap...2022-10-271h 00Newborn Screening SPOTlight PodcastGenomics England: The Role of Genomic Sequencing of NewbornsIn the United States, shortly after birth, every newborn receives a series of screening tests to identify treatable diseases. Every September we celebrate this amazing system of research, public health, and clinical care that saves the lives of babies every day with Newborn Screening Awareness month. Neonatal screening also occurs around the world and many countries are working on innovative approaches to use genomics to significantly expand, or improve, our ability to screen, diagnose, and treat hundreds if not thousands of additional diseases. We are excited to feature one of these innovators on the Newborn Screening Spotlight, Dr. David B...2022-09-2847 minNewborn Screening SPOTlight PodcastThe Ethical, Legal, and Social Implications (ELSI) of Newborn Screening ResearchWe are excited to welcome Dr. Jeffrey Brosco to the NBSTRN SPOTlight today. Dr. Brosco will share moving stories from his lifetime of experiences caring for children and families as a clinician who specializes in Developmental-Behavioral Pediatrics. Dr. Brosco has both an M.D. and a Ph.D. degrees from the University of Pennsylvania, and he serves as Florida’s Title V Director for Children and Youth with Special Health Care Needs. Dr. Brosco has written numerous articles on the ethical, legal, social implications of newborn screening and along with Diane Paul, he authored a book called The PKU Pa...2022-08-3138 minNewborn Screening SPOTlight PodcastNewborn Screening Pilot StudiesToday 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 th...2022-07-2829 minNewborn Screening SPOTlight PodcastCongenital Cytomegalovirus (CMV)Listen as Dr. Megan Pesch shares her journey to becoming a parent advocate and a researcher in Cytomegalovirus (also called CMV). Dr. Pesch is an Assistant Professor of Developmental and Behavioral Pediatrics at the University of Michigan where she is the Director of the Congenital CMV Developmental Follow-up Clinic. Dr. Pesch completed her medical school training, residency, and fellowship at the University of Michigan. She is board certified in Developmental and Behavioral Pediatrics and serves as the President-elect of the National CMV Foundation.
Dr. Pesch’s youngest daughter has a profound bilateral sensorineural hearing loss from congenital CM...2022-06-2241 minNewborn Screening SPOTlight PodcastAmerican Society of Gene and Cell TherapyAdvances in gene and cell therapies are enabling researchers, clinicians, families, and regulators to work together in incredible new ways to treat previously untreatable conditions.
Listen to Christina Mayer share her efforts to advance policies that help to realize a future where gene and cell therapies are available to all individuals for all diseases. Christina is currently the Senior Manager of Government Affairs at the American Society of Gene and Cell Therapy in Milwaukee, Wisconsin. She works with federal government agencies and decision-makers to impact key components of gene and cell therapies like NIH research f...2022-05-0937 minNewborn Screening SPOTlight PodcastSCID Angels for Life FoundationListen as Barb Ballard shares her long history of advocacy and innovative efforts in newborn screening. Barb is currently the Director of SCID Angels for Life Foundation. Her involvement with the non-profit sector began after her son, Ray, born in 1994, was diagnosed at 10 ½ months old with X-Linked Severe Combined Immune Deficiency, commonly known as the Bubble Boy Disease. Barb served on the Board of Trustees for The Immune Deficiency Foundation for 18 years, where she advocated for the interests of parents, families and individuals living with immune deficiency at numerous state, and federal committees, while developing the SCID Initiative Program. Wh...2022-04-1130 minNewborn Screening SPOTlight PodcastThe Legacy of Angels Foundation (TLOAF) for Krabbe Disease, Cystic Fibrosis, and Newborn ScreeningIn this episode, we welcome Stacy L. Pike-Langenfeld to the Newborn Screening SPOTlight. For many years, Stacy and her family have championed newborn screening research in profound ways through their foundation, called The Legacy of Angels Foundation. Stacy is currently the Executive Director of the foundation which was established in 2008 by Stacy’s parents, Paul and the late-Sue Rosenau. The Foundation helps to advance research by bringing world experts together to discover innovations in screening, diagnosis, treatment, and life-long care. Stacy is also the President and co-founder of KrabbeConnect, which is focused on engaging the patient-care model between patients, pa...2022-03-0126 minNewborn Screening SPOTlight PodcastNeonatology in Newborn Screening ResearchIn 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, calle...2022-01-3149 minNewborn Screening SPOTlight PodcastDuchenne Muscular Dystrophy (DMD)In this episode, you will hear from Dr. Michele Lloyd-Puryear talk about the diagnosis process and current intervention for Duchenne Muscular Dystrophy also known as DMD. We will learn how parent lay advocacy group plays a role in NBS and NBS research. Whether you’re a parent, health professional, researcher, or advocate, there are many ways to get involved with NBS research
Michele Lloyd-Puryear, MD, PhD, is a pediatrician and geneticist and has held academic appointments and has worked in pediatric clinics at the local and international levels. She is a Fellow of the American Academy of Ped...2021-10-2025 minNewborn Screening SPOTlight PodcastNewborn Screening for Spinal Muscular Atrophy (SMA)You’re listening to the voice of Dr. Kathy Swoboda, who is the Katherine B. Sims MD Endowed Chair in Neurogenetics and Director of the Neurogenetics Unit in the Center for Genomic Medicine at the Massachusetts General Hospital and Harvard Medical School. Her research and clinical activities are dedicated to the diagnosis and treatment of inherited motor disorders of childhood-onset, with a particular focus on genotype-phenotype studies documenting onset and timing of progressive denervation in infants with Spinal Muscular Atrophy, also known as SMA.
Dr. Swoboda collaborated closely with Cure SMA in helping to obtain cri...2021-08-3025 minNewborn Screening SPOTlight PodcastExploring the Newborn Screening System from Discovery to DiagnosisYou're listening to the voice of Dr. Jennifer Taylor, a Genomic Scientist at the American College of Medical Genetics and Genomics (ACMG), who is working on several projects at the Newborn Screening Translational Research Network. In this episode, Dr. Taylor explores the newborn screening system from discovery to diagnosis. She will highlight how research and in particular, the discovery of new technologies to screen, diagnose and treat all begin with a newborns in the first days following birth – whether it is a physiological test performed in the newborn nursery or a blood sample, collected and saved as small drops of...2021-08-0612 minNewborn Screening SPOTlight PodcastGetting on the "List" - Recommended Uniform Screening Panel (RUSP)You're listening to the voice of Dr. Amy Brower, the co-host of the Newborn Screening SPOTlight Podcast. This episode focuses on the common question, What does it take to get on the "list"? The list refers to the Recommended Uniform Screening Panel (RUSP) which is a national guideline for newborn screening (NBS).
Dr. Amy Brower was an inaugural member of a Federal Advisory Committee created during the administration of President George W. Bush. In 2004, the Advisory Committee on Heritable Disorders in Newborns and Children was established under the Public Health Service Act and was charged with advising the...2021-07-1216 minNewborn Screening SPOTlight PodcastCaring for my child with ADA-SCIDYou’re listening to the voice of Caroline Nachem who currently lives in VA with her husband and two children. She graduated from Old Dominion University in Virginia with a degree in history and studied anthropology. She became a stay-at-home mom when her daughter was born, and shortly after was inducted into medical motherhood. She spent the next several years caring for her daughter as she had ups and downs in her health. She also gave birth to her son as well who are now 7 and 5. In the podcast episode, Caroline will share her story and her advice to ne...2021-06-1424 minNewborn Screening SPOTlight PodcastA Brief History of Newborn ScreeningYou’re listening to the voice of Dr. Rodney Howell, who is a Professor and Chairman Emeritus of Pediatrics and Emeritus Member of the Hussman Institute for Human Genomics at The Miller School of Medicine of the University of Miami. He is certified by the American Board of Pediatrics as well as the American Board of Medical Genetics and Genomics in Clinical Biochemical Genetics. Dr. Howell was founding chair of the U.S. Congressionally-mandated Secretary’s Advisory Committee of Heritable Disorders in Newborns and Children (2004-2011) This is a committee that advises the Secretary of Health and Human Services on is...2021-06-1439 minNewborn Screening SPOTlight PodcastNewborn Screening SPOTlight Podcast Trailer
Hello, this is the “Newborn Screening SPOTlight”. 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, Dr. Kee Chan and Dr. Amy Brower. We are from the Newborn Screening Translational Research Network (also known NBSTR...2021-06-0202 min