Dr. 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 br ..read more

If 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 with the birth of their son, Ford ..read more

Join 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 fa ..read more

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 counsel ..read more

Every 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, advo ..read more

We 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 achi ..read more

For 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 Ro ..read more

Listen 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 NBSTR ..read more

Family 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 spe ..read more

Welcome 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 Pr ..read more