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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.
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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? -
Eksik bölüm mü var?
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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? -
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.
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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? -
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? -
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 achievements, Dr. Kingsmore pioneered the development of ultra-rapid Whole Genome Sequencing to decode rare disease in newborns. In 2021, he led the RCIGM team to break his own world speed record by achieving diagnosis via WGS in 13.5 hours. Dr. Kingsmore came to Rady Children’s in 2015 from Children’s Mercy Kansas City, where he was the Executive Director of Medical Panomics. He previously served as President and CEO of the National Center for Genome Resources; COO of Molecular Staging Inc.; Vice President of Research at CuraGen Corporation; founder of GatorGen; and Assistant Professor at the University of Florida’s School of Medicine. Dr. Kingsmore received MB, ChB, BAO and DSc degrees from the Queen’s University of Belfast. He trained in clinical immunology in Northern Ireland and did residency in internal medicine and fellowship at Duke University Medical Center. He is a fellow of the Royal College of Pathologists. Learn from Dr. Kingsmore how to work through the challenges in research and clinical practice in advancing newborn screening research.
Podcast Interview Questions
Thank you, Dr. Kingsmore, for being a guest on the NBSTRN podcast, NBS SPOTlight. We are excited to speak with you today! Dr. Kingsmore, you are currently the President/CEO of Rady Children's Institute for Genomic Medicine, where you lead a multi-disciplinary team of scientists, physicians and researchers who are pioneering the use of rapid Whole Genome Sequencing to enable precise diagnoses for critically ill newborns. How did your interest in rare disease research lead you to San Diego?Many of us remember specific milestones you and your team have accomplished and your calls to action have inspired stakeholders across the NBS community. During your presentation at our NBS Research Summit in 2021 you spoke about “NBS and Rapid Whole Genome Sequencing (rWGS) for Severe Infant Onset Genetic Diseases". Most recently, you were a part of the International Conference on Newborn Sequencing (ICoNS) in augural meeting where you joined researchers from across the world to share information about newborn sequencing initiatives. What were the major takeaways from that meeting, and what should the NBS Research Community be aware of?You recently published that your team has developed a “Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots.” Up to eighty-one genetic diseases are included in screening, thirty-six of which are recommended for NBS by a federal advisory committee known as the Recommended Uniform Screening Panel. As you know, there are more than 7,000 rare genetic diseases (RD) that affect 6-8% of the US population or about 30 million Americans. Addition to the RUSP is a lengthy process. What are your thoughts on how the use of genome sequencing using dried blood spots to identify rare diseases could change the landscape of newborn screening policy when we currently adopt one condition at a time and the nationwide implementation can take years?We appreciate your contribution to the American Journal of Medical Genetics Special Issue on Newborn Screening Research, where Dr. Amy Brower and Dr. Kee Chan were co-editors of this issue. Your article on the “Dispatches from Biotech beginning BeginNGS: Rapid newborn genome sequencing to end the diagnostic and therapeutic odyssey” highlights the BeginNGS, a consortium in collaboration with academia, pharmaceuticals, biotechnology and non-profit organization to provide a platform for implementing whole-genome sequencing for newborn screening, disease management and interventions, and rare disease drug development for use by partners around the world. Could you share the work in progress as of now?If we were to implement whole-genome sequencing for newborn screening globally one day, how do you envision long-term follow-up of management of care for the patient and families, including medical, non-medical, psychological services, education, and other related services to improve the quality of life to be supported?You received your medical training from the Queen’s University of Belfast in Ireland. You trained in clinical immunology in Northern Ireland and did residency in internal medicine and fellowship at Duke University Medical Center. You are also a fellow of the Royal College of Pathologists. What sparked your interest in newborn screening?You have such a long history of successes and accomplishments that have global impact on health care and public health. In March of 2015, you surpassed your previous record in genetic sequencing by reducing the process to 26 hours, which was recognized in April 2016 by Guinness World Record as the fastest genetic sequencing in the world. Now, I think your team has reduced the time again. On the flip side of the coin, would you mind sharing your biggest challenge —and what did you learn from that experience? What’s your biggest challenge in your research right now, and how are you tackling it? How could NBSTRN data tools and resources assist you?What does NBS research mean to you? -
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 Roadmap, and the community-driven Guide to Patient Involvement in Rare Disease Therapy Development. Annie previously held leadership roles at Parent Project Muscular Dystrophy (PPMD) and the Muscular Dystrophy Association (MDA). She is a sought-after advisor to patient-centered organizations and initiatives across the nonprofit and government sectors. If you are new to advocacy work or a seasoned advocate, become inspired by Annie’s story to carry forward despite the road to advocacy work is non-stop, exhausting and at times, bumpy with many ups and down. Join this collective energy to advocate for rare diseases research.
Podcast Interview Questions:
1. For over three decades your advocacy work has been critical to amplifying the voices and you are currently the Director of Chief of Policy, Advocacy, & Patient Engagement for the EveryLife Foundation for Rare Diseases. Can you share with our listeners the mission of the EveryLife Foundation? What were major accomplishment made? And how can they get involved?
2. EveryLife Foundation for Rare Diseases also plays important roles in advancing newborn screening advocacy in the United States. What is your vision for how stakeholders across newborn screening and the rare disease community can work together?
3. EveryLife Foundation led a study to assess the total economic burden of 379 rare diseases in 15.5 million individuals in the United States in 2019. The total economic burden was $997 billion. What were your key takeaways from this important study and how can the results inform researchers, clinicians, policy makers, and other key stakeholders?
4. Prior to the EveryLife Foundation, you were involved in the Parent Project Muscular Dystrophy (PPMD) and the Muscular Dystrophy Association (MDA). In that time, you helped lead the legislative efforts around passage and implementation of the MD-CARE Act (2001, 2008, 2014), the Patient Focused Impact Assessment Act (PFIA) which became the Patient Experience Data provision within the 21st Century Cures Act (sec 3001). Congratulations, these are incredibly impactful efforts. Can you tell our listeners about the ‘behind the scenes’ activities that were undertaken to lead these efforts and the implementation strategy.
5. February is a special month. Every year, last day of February is a day to raise awareness for rare diseases and improve access to treatment and medical representation for individuals with rare diseases and their families. What are some rare disease day activities taking place?
6. Are you involved in training the next generation of advocates, and what do you tell them about newborn screening research?
7. How did you know leading advocacy work was your calling? Can you share your career journey?
8. The road to advocacy work is non-stop, and at times, bumpy, do you have any stories of inspiration that keep you going?
9. How can NBSTRN assist in you advocacy work?
10. What does NBS research mean to you?
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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 NBSTRN Steering Committee, which has informed the evolution of the tools and resources for newborn screening research.
Podcast Interview:
Dr. Chung, you are a board-certified clinical and molecular geneticist with 20 years of experience in human genetic research. How did you get involved with newborn screening research?Your work has led to ground-breaking publications describing the genetic basis of both rare and common genetic disease, and your efforts have often described not only the basis for disease, but the development of precision therapies based on the genetic findings in individuals. You are now leading a new effort, the Guardian Study. Please tell our audience how your years of research led you to conceive of and undertake this effort.NBSTRN highlights innovative efforts at our annual NBS Research Summit. You presented in 2020 on the "Genomic Causes of the Broken Hearts” Can you describe your goals with this effort and how this could facilitate early treatment and improve health outcomes for infants with congenital heart disease?Your research team collaborated with ACMG and NBSTRN, and many others in a two-year pilot of newborn screening for Duchenne Muscular Dystrophy. Could you share with our listeners what you and the consortia learned from this pilot and how this might inform future efforts?In 2019 the NBSTRN Bioethics and Legal Workgroup led a published recommendations to guide pilot studies and included a recommendation to enroll diverse participants. Informed by this work, your team examined parental views about expanded NBS and the use of genomics. Please tell what this effort told you about the role of parental choice in expansion of NBS.Are you involved in training the next generation of board-certified clinical and molecular geneticist and what do you tell them about newborn screening research?Thank you for serving as co-chair of the NBSTRN Steering Committee. What are you most excited about? What role could NBSTRN play in your efforts in advancing NBS research?In addition to funding NBSTRN, NICHD supports a variety of efforts to advance NBS research. CDC and HRSA also fund important efforts to advance and support NBS through work with state NBS programs, policy makers, parents and advocates. Please share your vision of how these key federal partners could work together to accelerate the translation of research findings into public health and clinical care.What does NBS research mean to you? -
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 special emphasis on maternal and child health issues. A decade ago, Natasha and her team launched Baby’s First Test as the first National Newborn Screening Resource Center to provide education, family support and services information, and resources about newborn screening at the local, state, and national levels. Natasha received her BA in Psychology from Boston College and began her career as a summer intern at NIH. This year, 2022, her journey from intern to national expert was recognized as Natasha and received the Judi Tuerck Newborn Screening Follow-up and Education Award for her significant contributions. Listen along with us as she shares advice on engaging families and educating the next generation of advocates to help speed research to develop new technologies to screen, diagnose, treat, and manage the disease. Newborn screening saves lives, and leaders like Natasha help make it possible!
Interview Questions:
1. Congratulations on receiving the Judi Tuerck Newborn Screening Follow-up and Education Award at the APHL NBS Symposium. This award honors someone who has made significant and outstanding contributions in providing innovative newborn screening follow-up training/education for best practices. This year recipient is you, Natasha. You are the founder of Expecting Health and chief strategy officer, Genetic Alliance. Baby first test is a part of the Expecting Health, and it has been 10 years. For our audience, could you share the mission of Expecting Health and how they can learn more?
2. You have a new program called Parent Navigators. Can you tell us about this program and why it is important?
3. You are also the Chief Strategy Office of Genetic Alliance. Can you share with our audience your role and the mission of Genetic Alliance? How did you get involved with newborn screening research?
4. Your work involved engaging and empowering families in the decision-making process on maternal and child health issues. In the era of expanding newborn screening with additional conditions on the RUSP and the potential of using genomic sequencing, what are family perspectives towards genetics, and what are the challenges that researchers need to reconsider in conducting public health genetics and genomic research?
5. What advice do you have for researchers to engage families and advocacy organizations to amplify their voices and concerns in the design of their research study?
6. Newborn screening tests are conducted by the State Newborn Screening Program. Can you describe an example of large-scale education for newborn screening? Do you have tips on partnering with the state program?
7. UCSF recently published an article titled “Non-White Newborns With Cystic Fibrosis More Likely To Be Missed in Screening.” Your work has intersected the area of diversity, equity, and inclusion. What do you think we as an NBS Research Community need to do?
8. Are you involved in training the next generation of advocates, and what do you tell them about newborn screening research?
9. What does NBS research mean to you?
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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 Project Director of the Western States Regional Genetics Network. Sylvia’s career in genetic counseling began when she received her Master of Science in Human Genetics and Genetic Counseling from Sarah Lawrence College in New York, and, this year in 2022, her over 30 years of efforts to expand and improve NBS in one or more states were recognized with the George Cunningham Visionary Award in Newborn Screening. During today’s podcast Sylvia shares the ways visionaries like Dr. Cunningham played in her journey to train and inspire current and future genetic counselors. She also shares the exciting news that she will be developing a new program to train genetic counselors using an innovative model at Creighton University beginning in 2023. Sylvia’s decades of empowering parents, families, patients, and advocates from diverse backgrounds, she lives in Hawaii after all, has resulted in professional with a rare combination of genetic expertise, sincere empathy, and a tireless work ethic that has resulted in important conversations and discussion of diversity, equity, inclusion, and justice taking place.
Interview Questions:
1. Congratulations on your recent award of George Cunningham Visionary Award in Newborn Screening at the APHL NBS Symposium. It is given to someone who has made the greatest contribution to expanding or improving the screening of newborns by public health agencies in one or more states. This year’s award recipient is you, Sylvia. In the early 1960s, many states mandated NBS within their health departments and/or state laboratories to provide coordination and oversight for NBS. Can you share with our listeners about the newborn screening system in the state of Hawaii and any specific similarities and differences on the screening system different between states?
2. In one of our podcast episodes titled “Getting on the List” which was led by our co-host Dr. Brower, we highlighted the nomination process of getting a condition added to the RUSP. However, once the condition is on the RUSP, the process of implementation of the new condition is a bit complex and seems to differ between state to state. After a new condition is added to RUSP, can you help demystify the process to our listeners - what are the next steps in state-wide implementation of screening for that new condition in general and in the state of Hawaii? (Perhaps, Sylvia you can discuss and reference your public/private partnership paper here)
3. You are currently 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 Project Director of the Western States Regional Genetics Network. Can you share with our audience how you are involved with newborn screening in these different positions?
4. November is a special month, beside the time for Thanksgivings. November is the month of Family History Awareness as well as Genetic Counseling Awareness. You are one of the very few genetic counselors working in a state public health agency. Can you tell our listeners how you got interested in a career as a genetic counselor and how does genetic counseling play a role across the lifespan especially in public health?
5. According to the 2022 professional status survey by the National Society of Genetic Counselors, 90 percent of genetic counselors in the United States are white, and the percentages of genetic counselors identifying as Black or Hispanic/Latino/Latinx1 are not proportionally representative of the general U.S. population. Why do you think there is a lack of workforce diversity?
6. In your publication, creation of the Minority Genetic Professionals Network to increase diversity in the genetics work force, you described that the Health Resources and Services Administration funded Western States Regional Genetics Network to create a Minority Genetic Professionals Network (MGPN) to recruit and mentor high school and undergraduate students to enter genetic professions such as genetic counseling. How can our listeners learn more about this network and get involve?
7. Are you involved in training the next generation of genetic counselors, and what do you tell them about newborn screening research?
8. Do you have any stories of inspiration that keep you going? perhaps, any story you can share with de-identified information)
9. What does NBS research mean to you?
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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 advanced technologies and the critical need for the expansion of the newborn screening public health program. Mike is also an Adjunct Associate Researcher at Columbia University where he conducts newborn screening-related research. Dr. Hu received his Ph.D. degree in Molecular Genetics and Microbiology from the University of Texas at Austin and his B.S. degree in Cell Biology and Genetics from Peking University. He is currently on the Steering Committee and chair of the researcher needs workgroup at NBSTRN. He will share his perspectives as a researcher, parent, and advocate for NBS research as well as his efforts collectively with other key stakeholders in the research, clinical, and advocacy realm in helping to get MPS II added to the RUSP. Be inspired by his story of determination, perseverance, and purpose in advancing NBS research.
Interview Questions with Dr. Hu:
Hu, you are the co-founder and President of Project GUARDIAN, a new nonprofit organization with the mission of advancing genomics-based newborn screening. This is a joint effort between academia and industry. Can you tell our audience how this initiative came to be? Sequencing 100,000 newborns in NYC is a significant goal, and other institutions are undertaking similar activities such as Genomics England where Dr. David Bick (who was featured on our podcast) will be leading. What efforts are being undertaken to share information and strategies on best practices for disseminating sequencing information to families, clinicians, and researchers?Hu, you are a parent of two children with a rare disorder called Mucopolysaccharidosis II (MPS II or Hunter syndrome). Your first child was diagnosed with the condition around the age of 3.5 years old. Can you tell us how you found out about the diagnosis and what happened next?At the age of 12 months, your second child was diagnosed before the disease was evident due to his older sibling’s findings. Can you share the clinical outcomes and any differences in the two siblings?Could you share your process in caregiving to your child with Hunter Syndrome? Any advice for new parents?Before your child was diagnosed with Hunter Syndrome, were you aware of NBS?NBS for Hunter syndrome is now added to the recommended uniform screening panel (also known as RUSP) and you were a part of these efforts. Can you describe this journey of adding a condition to the RUSP? Do you have any advice for other families on the nomination process?What do you think prospective parents should know about newborn screening research?You are currently on the Steering Committee and the Chair of the Researcher Needs Workgroup at NBSTRN; what efforts do you see NBSTRN can support in NBS Research and your efforts in the GUARDIAN project?What does NBS research mean to you? -
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 innovators on the Newborn Screening Spotlight, Dr. David Bick who, is the Principal Clinician for the Newborn Genomes Programme at Genomics England. Genomics England is undertaking an effort to include genomics in neonatal screening.
Prior to his work in England, he was the Chief Medical Officer and a faculty investigator at the HudsonAlpha Institute for Biotechnology. He came to HudsonAlpha from the Medical College of Wisconsin where he was Professor in the Department of Pediatrics and the Department of Obstetrics & Gynecology at the Medical College of Wisconsin. At the Medical College of Wisconsin he was the Director of the Clinical Sequencing Laboratory, Director of the Advanced Genomics Laboratory at Children’s Hospital of Wisconsin, Medical Director of the Genetics Clinic at Children’s Hospital of Wisconsin, and Chief of the Division of Genetics in the Department of Pediatrics at Medical College of Wisconsin.
Dr. Bick received his medical degree from George Washington University School of Medicine in 1981 and completed his residency in Pediatrics at Yale-New Haven Hospital in New Haven, CT. At the Yale University School of Medicine, Dr. Bick completed a fellowship in Human Genetics and Pediatrics in 1986, followed by a post-doctoral research fellowship in Human Genetics in 1987. Dr. Bick is board certified in Pediatrics, Clinical Genetics, and Clinical Molecular Genetics.
He is a leader in the field of genomic medicine and has published numerous peer-reviewed articles, chapters, and reviews. Dr. Bick’s laboratories at the Medical College of Wisconsin and Children’s Hospital of Wisconsin were the first in the world to offer whole genome sequencing as a clinical test. He also developed the first Genomic Medicine Clinic in the United States. Join us as we learn about the role of genomic sequencing of newborns.
Podcast Interview Questions for Dr. David Bick
Bick, thank you for joining us for the newborn screening SPOTlight podcast, we would love for our listeners to get know you and the impact you’ve made on clinical genomic medicine, newborn screening research. You’re a pediatrician, researcher, and leader in genomic medicine. How did you get involve with newborn screening research?You were a faculty in the Department of Pediatrics and the Department of Obstetrics & Gynecology at the Medical College of Wisconsin, where your laboratory was the first to offer whole genome sequencing as a clinical test. What advice can you share for others who are interested in proposing the implementation of genome sequencing in their hospitals?You have now moved to the UK to be the Principal Clinician for the Newborn Genomes Programme at Genomics England. Can you tell our listeners more about this program?From your experiences at the Screen4Care consortium and the European collaborative Innovative Medicines Initiative, what are lessons that we in the US can learn from?In your recent publication titled “Newborn Screening by Genomic Sequencing: Opportunities and Challenges,” you describe the need for “standardization of data formats and analytical approaches within and even between health systems” to support newborn screening by genome sequencing. There are differences between the UK and US health care delivery system. How do you envision this process of standardization in the UK? How can the US with its various health care delivery systems and health insurance plans be able to adopt a similar approach?Are you involved in training the next generation of pediatrician nd what do you tell them about newborn screening research?What role could NBSTRN play to support international efforts in advancing rare disease research and screening for diseases for which early intervention may improve outcome?What does NBS research mean to you? -
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
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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
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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 CMV and this led to her involvement in national advocacy efforts to ensure that all newborns receive CMV screening. Dr. Pesch’s clinical interests include the early diagnosis and treatment of congenital CMV using a multidisciplinary approach with a focus on family care and support, while her research focuses on healthcare provider practices around congenital CMV diagnosis and management and understanding the relationship between autism and CMV.
The month of June is CMV awareness month. Please visit the National CMV foundation to learn more about advocacy efforts in CMV in your area and how you can support NBS for CMV.
Learn more about Dr. Megan Pesch and her advocacy effort on newborn screening for CMV:
https://ihpi.umich.edu/our-experts/pesch
https://www.nationalcmv.org
Podcast Interview Question with Dr. Megan Pesch.
You are currently an Assistant Professor of Developmental and Behavioral Pediatrics and the Director of the Congenital CMV Developmental Follow-up Clinic at the University of Michigan. Can you tell our listeners more about CMV and how it impacts mothers, their babies and families? (perhaps, talk about the differences between prenatal CMV and neonatal congenital CMV)?You are a clinician and a researcher, and lead efforts in the Pesch Lab at Michigan Medicine at the University of Michigan! One of your projects brings together a multidisciplinary group of health care providers to refer infants who fail their newborn hearing screen for congenital cytomegalovirus testing. Tell us more about this important project and explain how you got involved in newborn screening research?Currently, there is no standard of care or routine screening for newborns for congenital cytomegalovirus at birth. What can parents do if they suspect their baby has CMV? (perhaps discuss the Alethia CMV Assay Test System)What is hearing targeted early cytomegalovirus (HT-CMV) screening?One of your current studies seeks to understand the possible connection between exposure to CMV during pregnancy and the later risk of autism. Can you tell us more about this effort? What are you hoping to learn? What is the biological pathway?You are also the President-elect of the National CMV Foundation. What are some of the current activities or programs that people can get involved in your advocacy efforts? What are the recent advocacy efforts to support newborn screening for CMV? Is it currently being reviewed to be added to the RUSP?Are you involved in training the next generation of pediatricians, and what do you tell them about newborn screening research?You are busy as a clinician, researcher, advocate, and parent. Do you have any stories of inspiration that keep you going?What does NBS research mean to you?To learn how NBSTRN can help your research in newborn screening, visit www.nbstrn.org
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Advances 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 funding, genetic testing and screening, payment policy and patient access to approved therapies. She also contributes to the Society’s work on other policy priorities, such as regulatory oversight and the responsible use of new genetic technologies. Christina has a Master of Public Administration from the University of Nebraska-Omaha.
Listen with us as we imagine a future where the availability and equitable use of gene and cell therapies helps to realize the promise of a healthy future for all.
Podcast Interview Questions with Christina Mayer:
1. You are currently the Senior Manager of Government Affairs at the American Society of Gene and Cell Therapy. Can you tell us about the mission of the American Society of Gene and Cell Therapy? What is your role there?
2. What an exciting and rewarding time to advocate for gene and cell therapies! ASGCT reminds us all that there are literally 1000s of clinical trials for novel therapies and over the next decade there will be about 30 approved therapies for genetic disease, not counting cancer. What can our listeners do to become more aware of these efforts and to become advocates for continued advancement and access to these life-saving and in many cases disease curing therapies?
3. In its 2020 – 2022 strategic plan, ASGCT identified access to genetic testing and screening as one of its core patient access priorities. What efforts have been made by ASGCT to advance access to genetic testing and screening in newborns? Can you describe ways that the current approach to newborn screening in the United States could be improved to enable the use of gene and cell therapies? What are ways that our listeners can get connected to your organization?
4. In Feb 2021, ASGCT provided a public comment to Advisory Committee on Heritable Diseases in Newborns and Children (ACHDNC) on the newborn screening process.In this letter, ASGCT stated its support of the Newborn Screening Saves Lives Act. Can you tell us listeners more about the history of this act? Why is it important that it get passed? What would happen if it doesn’t?
5. Also, in the letter, ASGCT offers three recommendations to the ACHDNC. They are: 1) Ensure the RUSP keeps pace with treatment approvals, 2) Collaborate with and rely upon the FDA, and 3) Ensure the process to advance a disorder through the ACHDNC is transparent, predictable,and timely. Would you mind sharing the evidence that supported each of recommendations? (Perhaps, discuss the problem and why this recommendation would solve that problem)
6. ASGCT has worked partner organizations to support other NBS and you are hosting a workgroup and symposium in May to discuss advancements in NBS. Thank you for inviting Dr. Brower and NBSTRN to present during the workshop. Please tell us more about these important events and how they can participate.
7. You and Dr. Brower serve on the planning committee for an effort by EveryLife Foundation to develop actionable policy solutions aimed at ensuring newborn screening continues to advance. This includes the research facilitated by NBSTRN and ASGCT, as well as the policies that you and your team champion. Can you describe why these types of efforts to build coalitions and collaborations across different stakeholder groups are so important?
8. You have a very interesting career path and your work inspires many of us to achieve meaningful change and work to advance discoveries that save and improve lives. Can you share with our listeners what sparked your interest in the revolution that is gene and cell therapy as well as newborn screening research?
9. What does NBS research mean to you?
Learn more about ASGCT annual meeting at https://annualmeeting.asgct.org
To learn more about newborn screening research data tools and resources, visit www.nbstrn.org
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Listen 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. While her son was hospitalized as a baby at Duke University, Barb developed the first list-serv for families of children diagnosed with SCID. Be inspired by Barb’s story of perseverance, determination, and dedication in supporting families facing genetic disease.
Interview Questions with Barb Ballard:
1. What is the mission of your organization (perhaps, here you can discuss your grant and scholarship program, community engagement activities, and resources on clinical trials)?
2. Barb had a child with SCID who also touched many lives and his story directly and indirectly led to changes in the way newborns are screened, diagnosed, and treated for immune deficiencies. Can you tell our listeners about his life and your hopes for his legacy?
3. Before Ray was diagnosed with SCID were you aware of newborn screening? What do you think prospective parents should know about newborn screening – not only for SCID but other conditions?
4. Because SCID is a spectrum of different genetic variations (or changes, we used to call them mutations) and needs of patients with SCID vary drastically, how do you engage clinical research partners to understand the needs and concerns of the patient population?
5. What are some of the current efforts of SCID Angels for Life organization in disseminating information on new clinical research?
6. What role does your Facebook or other social channels help to support families whose newborn screens positive for SCID? Are there things that national groups like NIH, CDC and HRSA could be doing to support new families?
7. Your organization also currently manages three scholarship programs to support families: Family Scholarship, Travel Scholarship, and Education Scholarship. How could our listeners learn more about these programs? (perhaps you talk about the application process, deadline, qualifications)
8. You have hosted several Town Halls and other informational webinars on new information or clinical trials where the patients and their families are looking to have their questions answered directly. What are some of the common frequently asked questions?
9. What does NBS research mean to you?
To learn more about SCID Angels for Life, visit http://www.scidangelsforlife.com
If you have a story on how rare disease research has impacted your life and family, please contact NBSTRN to share your story on our podcast. Visit www.nbstrn.org
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In 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, patient advocacy groups, clinicians, researchers, industry, and government.
Stacy will share her story on how her family story intertwined with rare disease research and newborn screening. She will also highlight annual meetings and discuss ways that you can help advance NBS research. Be inspired by their mission to increase awareness and access to rare disease research.
Podcast Interview Questions with Stacy Pike-Langenfeld: 1. You are the Executive Director of The Legacy of Angels Foundation. Can you tell our audience how The Legacy of Angels Foundation came to be? 2. Your entire family has played important roles in founding and operating The Legacy of Angels Foundation for many years. Your mother’s efforts are especially well known in the newborn screening and rare disease communities. How does her memory guide your efforts today? 3. How have your efforts changed over the years? 4. Your team is growing! Do you have advice for patients, parents, families, and advocates who would like to start similar efforts related to conditions that have impacted their families? 5. Stacy, you are also the President and Co-Founder of KrabbeConnect. What is KrabbeConnect? Could you share with our listeners how these two organizations, The Legacy of Angels Foundation and KrabbeConnect work together? 6. TLOAF filed for Krabbe disease to be added to the MN NBS panel in Dec 2021 and a vote will likely occur in June of 2022. Newborn screening for Krabbe is also under review on a national level. Could you tell us a little bit about how submitting to a state advisory panel differs from a submission to the federal advisory board, which recommends screening for all states, territories and the District of Columbia? 7. Do you have advice for other groups interested in submitting their conditions for review? Any tips on the best approach – state or national? 8. The work of The Legacy of Angels Foundation has always informed the work of the Newborn Screening Translational Research Network or NBSTRN. Are there activities and efforts that you’d like to see NBSTRN facilitate as you work towards new goals? 9. Krabbe Translational Research Network is hosting its annual meeting on March 16-18, 2022? Could you share the agenda with our listeners? If our listeners are listening to this podcast after the meeting, is there a way for them to learn more? 10. What does NBS research mean to you?
Learn more about The Legacy of Angels Foundation (TLOAF) at https://www.tloaf.org
Become a member of the Newborn Screening Translational Research Network (NBSTRN) to help advance newborn screening research. Visit NBSTRN at www.nbstrn.org
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In 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, called BabySeq, and the leader of a new hospital-based supplemental Duchenne Muscular Dystrophy newborn screening program. His interest in integrating genomic sequencing platforms into newborn screening has led to developing pilot programs for newborn genomic screening of cancer predisposition syndromes, such as retinoblastoma, and Menkes disease. We are excited to share Dr. Parad’s efforts and passion for NBS research.Interview Questions with Dr. Parad:
You are a neonatologist. How did you get involved with newborn screening research?You have published on groundbreaking efforts in diverse diseases from cystic fibrosis to congenital heart disease. Were there experiences during your care of babies in the NICU that led you to lead a pilot of newborn screening for Duchenne Muscular Dystrophy?You and your colleagues presented at the NBSTRN Research Summit on the early detection of pediatric cancer predisposition. Can you describe your goals with this effort and how this could advance pediatric cancer research?What is BabySeq?aAre you involved in training the next generation of neonatologists and what do you tell them about newborn screening research?You have been a member of the NBSTRN. What role does NBSTRN play? What role could NBSTRN play in your efforts to help ensure that all babies have the healthiest future possible, and screening for diseases for which early intervention may improve outcome?What does NBS research mean to you?To learn how to get involved in newborn screening research, visit www.nbstrn.org
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