Complementing Newborn Screening with Rapid Whole Genome Sequencing (rWGS) for Rare Diseases in Infants
Newborn Screening SPOTlight Podcast
by Dr. Kee Chan and Dr. Amy Brower
2w ago
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
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Advancing Newborn Screening Research Through Rare Disease Awareness, Support and Advocacy
Newborn Screening SPOTlight Podcast
by Dr. Kee Chan and Dr. Amy Brower
1M ago
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
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A Clinical and Molecular Geneticist Impacting Newborn Screening Research in Congenital Heart Disease, Duchenne Muscular Dystrophy and the GUARDIAN study
Newborn Screening SPOTlight Podcast
by Dr. Kee Chan and Dr. Amy Brower
2M ago
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
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Family Engagement, Diversity, Equity, and Inclusion (DEI) Access in Newborn Screening Research
Newborn Screening SPOTlight Podcast
by Dr. Kee Chan and Dr. Amy Brower
3M ago
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
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Genetic Counseling & Diversity, Equity and Inclusion (DEI) Justice in Newborn Screening Research and Workforce
Newborn Screening SPOTlight Podcast
by Dr. Kee Chan and Dr. Amy Brower
3M ago
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
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Research and Advocacy for Newborn Screening for Mucopolysaccharidosis II (MPS II/Hunter Syndrome)
Newborn Screening SPOTlight Podcast
by Dr. Kee Chan and Dr. Amy Brower
3M ago
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 between advance ..read more
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Genomics England: The Role of Genomic Sequencing of Newborns
Newborn Screening SPOTlight Podcast
by Dr. Kee Chan and Dr. Amy Brower
3M ago
In 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 inn ..read more
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The Ethical, Legal, and Social Implications (ELSI) of Newborn Screening Research
Newborn Screening SPOTlight Podcast
by Dr. Kee Chan and Dr. Amy Brower
3M ago
We 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 ..read more
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Newborn Screening Pilot Studies
Newborn Screening SPOTlight Podcast
by Dr. Kee Chan and Dr. Amy Brower
3M ago
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 ha ..read more
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Congenital Cytomegalovirus (CMV)
Newborn Screening SPOTlight Podcast
by Dr. Kee Chan and Dr. Amy Brower
3M ago
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 profoun ..read more
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