Newborn Screening SPOTlight Podcast
Dr. Amy Brower
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Top 10 Newborn Screening SPOTlight Podcast Episodes
Goodpods has curated a list of the 10 best Newborn Screening SPOTlight Podcast episodes, ranked by the number of listens and likes each episode have garnered from our listeners. If you are listening to Newborn Screening SPOTlight Podcast for the first time, there's no better place to start than with one of these standout episodes. If you are a fan of the show, vote for your favorite Newborn Screening SPOTlight Podcast episode by adding your comments to the episode page.
The Role of Medical Genetics in Newborn Screening and Genome Sequencing
Newborn Screening SPOTlight Podcast
08/01/23 • 50 min
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 fatty acid oxidation and amino acid metabolism, and population genetics of the Plain communities in the United States. He has published over 320 peer-reviewed scholarly articles and is the principal or Co-investigator on multiple NIH grants. Dr. has an active clinical research program and participates in and consults on multiple gene therapy trials.
Dr. Vockley has served on numerous national and international scientific boards including the Advisory Committee (to the Secretary of Health and Human Services) on Heritable Disorders in Newborns and Children where he was chair of the technology committee. He is a Fellow in the American Association for the Advancement of Science. He is a Founding Fellow of the American College of Medical Genetics and Genomics, and currently serves on its board of directors. He is founder and chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM). He has served as chair of the Pennsylvania State Newborn Screening Advisory Committee and is a past president of the International Organizing Committee for the International Congress on Inborn Errors of Metabolism and the Society for the Inherited Metabolic Disorders (SIMD).
On this podcast, Dr. Vockley shares his career journey and personal stories about the impact of newborn screening research on physicians, families, and advocates.
Interview Questions:
- Among your many appointments, you serve on the Board of the American College of Medical Genetics and Genomics (ACMG) and advise on efforts to improve health through the practice of medical genetics and genomics. In addition to the ACMG board, you were integral in the early and current days of the NBSTRN. Can you tell us how you got involved in NBSTRN?
- As technologies to screen, diagnose, treat, and manage disease advance and increasingly use sequencing, can you share with our listeners your vision of how sequencing will be used in newborn screening in the future? What excites you about this potential, and can you share any concerns?
- You have published over 320 peer-reviewed scholarly articles and led many efforts funded by NIH and others. Can you describe the key findings from your most recent publication, “Rapid Whole-Genomic Sequencing and a Targeted Neonatal Gene Panel in Infants With a Suspected Genetic Disorder.”
- You are the Cleveland Family Endowed Pediatric Research, School of Medicine Professor of Human Genetics, Graduate School of Public Health, and the Director of the Center for Rare Disease Therapy, UPMC Children’s Hospital of Pittsburgh. In your article titled “Scaling genetic resources: New paradigms for diagnosis and treatment of rare genetic disease,” you mentioned that the movement from the basic science laboratory to clinical trials is still hampered by a regulatory system rooted in traditional trial design and requires a fresh assessment of safe ways to obtain approval for new drugs. You proposed the development and scaling of nucleic acid-based therapies. Could you share this possibility with our listeners and what challenges need to be overcome to deliver them safely with appropriate evaluation and long-term follow-up?
- Can you share any stories of inspiration that keep you going?
- Anything else you’d like to share?
- Thank you for your efforts in conceptualizing the NBSTRN and establishing a network of stakeholders that includes health professionals, researchers, state programs and families, and advocates. Do you have advice for this community and how they can help to realize and capitalize on the fifteen years of NBSTRN?
- You are involved in training the new generation of medical geneticists. What do you tell them about newborn screening research?
- What does NBS research mean to you?
Living with Phenylketonuria (PKU) and Caring for Patients with PKU
Newborn Screening SPOTlight Podcast
06/06/23 • 36 min
This 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 Doctor of Nursing Practice program at UMass Boston this September. In addition to expanding expertise in the clinical care and research for those with a variety of inborn errors of metabolism, she also has a particular interest in Phenylketonuria (PKU) and newborn screening. Her interest in working with inborn errors of metabolism began at a young age, due to her personal experience as a patient with PKU. After years of speaking at conferences from the patient perspective and receiving care from leading clinicians/researchers in metabolism from the patient side, this ultimately led to seeking a career as a healthcare professional in the specialty. She enjoys being able to offer both the provider and patient perspective, and has a passion for caring for patients in this specialty.
Interview Questions:
- Could you tell our listeners how you got involved in newborn screening?
- May is the PKU awareness month. What is the purpose of this rare disease awareness campaign. How can our listeners get involved this month?
- In the year 2023, it is the 60th anniversary of the newborn screening, and PKU was the first condition to be screened in newborns in 1951. A PKU screening test is a blood test given to newborns one to three days after birth. If babies are identified with PKU, they can benefit from early treatment. However, in the year 2013, there was a study that indicated that there is individual patient, social, and economic factors prevent some adult PKU patients in the US from accessing treatment. Ten years later, do you see any changes?
- There is a policy in development or in place to address this such as The Medical Nutrition Equity Act (MNEA). Can you tell us listener about this policy?
- In addition to medical nutrition therapy for PKU patients, what are other new types of treatment and gene therapy for PKU patients? Could you share the latest research effort and clinical trial in this area?
- You are on the Rare Disease Clinical Research Network (RDCRN) PHEEFREE Consortium External Advisory Board. What is the mission and activities of this network? What resources are available to patients and families with rare disease?
- Could you share your process for proving medical care to patients with PKU? As an adult with PKU, any advice for new parents who just received a newborn screening positive result for PKU?
- What do you think prospective parents should know about newborn screening research in screening, diagnosis, and treatment for PKU?
- You are currently on the Steering Committee at NBSTRN, what efforts do you see NBSTRN can support in NBS Research and your efforts?
- What does NBS research mean to you?
The Ethical, Legal, and Social Implications (ELSI) of Newborn Screening Research
Newborn Screening SPOTlight Podcast
08/31/22 • 38 min
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 Paradox: A Short History of a Genetic Disease. In 2019 Dr. Brosco was awarded the Maternal and Child Health Bureau Director’s Award for contributions to the health of infants, mothers, children, adolescents, and children with special health care needs across the United States. Listen along with us as Dr. Brosco discusses a wide range of topics including the use of genomics to help end the diagnostic odyssey for families.
Podcast Interview Questions for Dr. Jeff Brosco
- You are a pediatrician with a specialty in Developmental-Behavioral Pediatrics and also currently the State of Florida’s Title V Director for Children and Youth with Special Health Care Needs.How did you get involved with newborn screening research? (Perhaps, you can give our listeners some background on Title V and your role as the director in your response).
- You have written numerous articles on the ethical, legal, social implications of newborn screening. In one of your articles, you mentioned that whole and exome sequencing can add medical insights for families in the ‘diagnostic odyssey’ but in some case, families are still on the therapeutic odyssey. Here, you proposed a family-center approach to care in the genomic era. Could you elaborate to our listeners what this would be?
- Research helps to advance newborn screening by increasing the number of conditions that may be a fit for early identification and intervention. Where do you think the next decade of research will take newborn screening?
- In your recent publication, titled “Newborn Screening in Latin America: A Window on the Evolution of Health Policy,” you hypothesized that the history of NBS programs could be used to understand the development of health policy. Please share some of your takeaways from this effort and which comes first – NBS expansion or health policy – or are they intertwined? Are there unique game changers from a historical perspective that resulted in significant change?
- Are you involved in training the next generation of developmental-behavioral pediatricians and what do you tell them about newborn screening research?
- You played a key role in advancing the efforts of the NBSTRN for many years. What role does NBSTRN play? What role could NBSTRN play in your efforts to addressing the ethical, legal, social implications of NBS?
- As you think about your career as a clinician, are there any patient or family stories that you’d like to share with our audience?
- What does NBS research mean to you?
To become a member of NBSTRN, sign up a free membership account at www.nbstrn.org
Newborn Screening Pilot Studies
Newborn Screening SPOTlight Podcast
07/27/22 • 29 min
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
Exploring the Newborn Screening System from Discovery to Diagnosis
Newborn Screening SPOTlight Podcast
08/05/21 • 12 min
You'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 blood on filter paper.
A Brief History of Newborn Screening
Newborn Screening SPOTlight Podcast
06/14/21 • 39 min
You’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 issues concerning genetic testing in children. During this time, this committee oversaw the development of the Recommended Uniform Screening NBS Panel (The RUSP). Dr. Howell serves as advisor to Newborn Screening Translation Research Network.
In this episode, you will get a brief history of newborn screening and newborn screening research and the stories of families impacted by newborn screening. Learn how it all got started.
Interview with Dr. Rodney Howell:
- Newborn screening began in the 1960’s with screening to prevent intellectual disability. What were the important milestones in NBS over the years? How did it all get started?
- You were integral with the beginning of the Advisory Committee on Heritable Disorders in Newborns and Children. Can you tell us about the committee and how it fits into NBS?
- Research discovers new technologies to screen, diagnose and treat newborns. Why is NBS research important?
- Where do you see NBS and NBS research going in the next ten years? 50 years?
- What advice would you give someone wanting to pursue a career similar to yours?
- You have been an important advisor to the NBSTRN. What role does NBSTRN play? What role should NBSTRN play?
- What does NBS research mean to you?
To learn how you can help advance newborn research, advocate for rare disease screening and treatment, and learn about important discoveries, become a member of the Newborn Screening Translational Research Network by visiting our website at www.nbstrn.org.
Thank you for listening to this episode of Newborn Screening SPOTlight. If you like our podcast, please subscribe and share an episode with your colleagues, friends and family.
Get involved! Stay informed! Help us advance discoveries! Together, let’s increase the impact of newborn screening research by listening to your stories.
Innovative Blood and Marrow Transplant & Gene Therapy for Rare Diseases
Newborn Screening SPOTlight Podcast
09/25/23 • 35 min
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 brain and the peripheral nervous system for patients who lack specific enzymes. Other interests include the modification of stem cell transplant approaches and combination therapies to improve outcomes for patients with inherited diseases and the potential to develop multi-institutional cooperative studies for these disorders. Listen to a leading expert in saving the lives of children every day, including Dr. Amy Brower's son.
North Carolina Newborn Exome Sequencing for Universal Screening (NC NEXUS) and Early Check Project
Newborn Screening SPOTlight Podcast
06/30/23 • 59 min
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.
Advocacy Work for Newborn Screening Research and Treatment for Sickle Cell Disease
Newborn Screening SPOTlight Podcast
04/30/23 • 54 min
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, advocacy work for equitable resources, and community engagement to amplify the voices of patient and families with sickle cell disease.
She sits on several editorial and national boards including the National Black Nurses Association (NBNA) Sickle Cell Sub-Committee, the International Association of Sickle Cell Nurses and Professional Associates (IASCNAPA), and the Sickle Cell Community Consortium Executive Board.
Yvonne been appointed and reappointed as a member of the Tennessee Governor’s Genetic Advisory Committee for more than 15 years, and has been involved in community based participatory research since the beginning of her career, and in 2021, was recognized by American Lebanese Syrian Associated Charities (ALSAC), which is the largest healthcare related charity in the United States, with the St. Jude Legacy Award for her lifetime work with the sickle cell community.
Yvonne graduated with a Bachelor of Nursing Degree from the University of Tennessee and a Law degree from the University of Cincinnati. She is a proud veteran of the U.S. Navy, Judge Advocate General Corps, and is a wife, mother, and grandmother. Join us in listening to Yvonne share her passion and inspiring story of hope and vision for newborn screening research in sickle cell disease.
Podcast Interview Questions:
- How did you get involve with newborn screening research.
- You are currently the Director of Patient Services in the Department of Hematology at St. Jude Children's Research Hospital in Memphis, Tennessee. Can you tell our listeners about your role? (Yvonne, you can mention about the St Jude SCRIPP program and listeners can learn more about it here).
- You have been funded for sickle cell disease projects for more than 20 years. What areas of research have advanced in sickle cell disease as well as stalled in these past decades? Where do you see the direction of newborn screening research in sickle cell disease in the future?
- Your work also involved in engaging and empowering families in decision making process on the management of care for sickle cell disease. What advice do you have for researchers to engage families and advocacy organization to amplify their voices?
- You were a part of a group who published a study on “Strategies to increase access to basic sickle cell disease care in low- and middle-income countries”. Can you tell share with our listeners on these helpful strategies needed to increase access to basic SCD care for patients in these settings?
- You presented on “Informed Consent for Sickle Cell Disease Gene Therapy Reimagined” at the NBS Research Summit hosted by NBSTRN last September 2022. What are current challenges in consent process? How do you envision the informed consent reimagined?
- Are you involved in training the next generation of advocates and nurses, and what do you tell them about newborn screening research? (Yvonne, you can talk about Sickle Cell Nursing Bootcamp and include links and application process).
- You are currently on the Steering Committee at NBSTRN. What role do you see NBSTRN play in helping to advance your work and the field of sickle cell diseases?
- What does NBS research mean to you?
Lifting the Voices of the Community in the Rare Disease World Through Storytelling
Newborn Screening SPOTlight Podcast
08/31/23 • 41 min
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 Canon Parks. When she learned that Ford had been born with an extremely rare genetic condition – CTNNB1 syndrome – she immersed herself into the world of advocacy. Now, she is the host of her own podcast, Once Upon a Gene, where she speaks to others about their journey through life with rare disease. Since the launch of the podcast, Once Upon A Gene was awarded “Best In Show Podcast” by WEGO Health. Podcast Magazine recognized Effie as one of the 40 Under 40 Podcasters and she has been nominated for two Champion of Hope awards from Global Genes. Her mission is to learn, lift voices of the community, connect people to resources and to leave this world better than she found it for others in the rare disease world.
Interview Questions:
You are the host of podcast of Once Upon a Gene, where you speak to others about their journey through life with rare disease. Your mission is to learn, lift voices of the community, connect people to resources and to leave this world better than you found it for others in the rare disease world. What inspired you to start your podcast?
- Your baby was diagnosed with a rare disease called CTNNB1 syndrome. Can you tell us what led to the diagnosis and what happened next?
- Researchers discovered the genetic testing for CTNNB1 syndrome. While there is no single treatment for CTNNB1 Syndrome, each of the symptoms associated with the syndrome may be treated. Also, CTNNB1 gene is a good candidate for genetic replacement therapy. This exciting to hear the new development and research in treatments. Could you share your process in caregiving to your child with CTNNB1 syndrome? Any advice for new moms?
- Newborn screening identifies metabolic and genetic disorders at birth. Before your child was diagnosed with CTNNBI, were you aware of newborn screening?
- What do you think prospective parents should know about newborn screening?
- You are the host of Once Upon A Gene podcast, can you tell us what inspired to start the podcast?
- On your Once Upon a Gene blog, you shared that the movie “Back to Future” and especially the main cast member, Michael J. Fox have inspired you. Can you elaborate in what ways to our listeners?
- What has been going on in your life recently that you expected and didn’t expect?
- As you know NBSTRN creates tools and resources to help stakeholders to advance newborn screening research. How could NBSTRN and other organizations such as the Rare Diseases Clinical Research Networks supported by the National Center for Advancing Translational Sciences (NCATS) help you and your community to advance rare disease awareness?
- Where can people go to learn more about you? What can people expect from you next?
- What is one final thought that you want to leave our listeners with?
- What does newborn screening research mean to you?
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FAQ
How many episodes does Newborn Screening SPOTlight Podcast have?
Newborn Screening SPOTlight Podcast currently has 27 episodes available.
What topics does Newborn Screening SPOTlight Podcast cover?
The podcast is about Non-Profit, Podcasts, Science and Business.
What is the most popular episode on Newborn Screening SPOTlight Podcast?
The episode title 'Lifting the Voices of the Community in the Rare Disease World Through Storytelling' is the most popular.
What is the average episode length on Newborn Screening SPOTlight Podcast?
The average episode length on Newborn Screening SPOTlight Podcast is 37 minutes.
How often are episodes of Newborn Screening SPOTlight Podcast released?
Episodes of Newborn Screening SPOTlight Podcast are typically released every 29 days, 7 hours.
When was the first episode of Newborn Screening SPOTlight Podcast?
The first episode of Newborn Screening SPOTlight Podcast was released on Jun 2, 2021.
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