Podcasts about Newborn screening

Send us a textNeste episódio, trazemos um compilado de estudos recentes que abordam avanços e desafios no manejo hemodinâmico dos recém-nascidos, um tema essencial para neonatologistas e cardiologistas pediátricos. Nosso objetivo é fornecer informação acessível e atualizada para profissionais da área que falam a língua portuguesa. Vamos aos artigos selecionados:"Changes in Patent Ductus Arteriosus Management and Outcomes in Infants Born at 26 to 28 Weeks' Gestation", por Kaluarachchi DC et al. https://www.jpeds.com/article/S0022-3476(24)00559-6/abstract Este estudo analisa mudanças recentes na abordagem do tratamento do persistência do canal arterial (PCA) em prematuros de 26 a 28 semanas e seus impactos nos desfechos clínicos. "Hemodynamic assessment by neonatologist using echocardiography: Primary provider versus consultation model", por Shahab Noori et al. https://www.nature.com/articles/s41390-024-03248-7 Este artigo compara a avaliação hemodinâmica realizada diretamente pelo neonatologista com o modelo tradicional de consulta cardiológica. "Newborn Screening for Critical Congenital Heart Disease: A New Algorithm and Other Updated Recommendations", por Oster ME et al. https://publications.aap.org/pediatrics/article/155/1/e2024069667/200337/Newborn-Screening-for-Critical-Congenital-Heart A Academia Americana de Pediatria apresenta um novo algoritmo para a triagem de cardiopatias congênitas críticas em recém-nascidos. "Vasopressin as adjunctive therapy in pulmonary hypertension associated with refractory systemic hypotension in term newborns", por Santelices F et al. https://www.nature.com/articles/s41372-024-02015-0#citeas Este estudo investiga o uso da vasopressina como terapia adjuvante na hipertensão pulmonar associada à hipotensão sistêmica refratária em recém-nascidos a termo. Queremos saber sua opinião! Se este episódio foi útil para você, avalie nosso programa na sua plataforma de streaming favorita e compartilhe com colegas interessados na neonatologia. Sua participação nos ajuda a continuar trazendo conteúdo relevante e acessível para a comunidade.Prepare-se para um evento imperdível em Neonatologia! De 3 a 5 de abril, Gramado/RS recebe o IX Encontro Internacional de Neonatologia e o VII Simpósio Interdisciplinar de Atenção ao Prematuro. Inscreva-se agora: evento.fundmed.org.br/encontroneonatologia2025Até o próximo episódio! Não esqueça: você pode ter acesso aos artigos do nosso Journal Club no nosso site: https://www.the-incubator.org/podcast-1 Lembrando que o Podcast está no Instagram, @incubadora.podcast, onde a gente posta as figuras e tabelas de alguns artigos. Se estiver gostando do nosso Podcast, por favor dedique um pouquinho do seu tempo para deixar sua avaliação no seu aplicativo favorito e compartilhe com seus colegas. Isso é importante para a gente poder continuar produzindo os episódios. O nosso objetivo é democratizar a informação. Se quiser entrar em contato, nos mandar sugestões, comentários, críticas e elogios, manda um e-mail pra gente: incubadora@the-incubator.org

LB 310 is very similar to the bill discussed in this prior episode so we thought it would be helpful to release this one again to provide general information about the newborn screening program in Nebraska. Join us and our expert guest host, Danita Velasco, MD, a pediatric genetic specialist, as she explains the history and process of newborn screening in Nebraska and helps inform our conversation about how this bill would impact medical care in our state. Link to the bill - https://nebraskalegislature.gov/bills/view_bill.php?DocumentID=58757 We rely on your donations to keep producing this podcast content and to support physician advocacy in Nebraska. If you would like to support Nebraska Alliance for Physician Advocacy, a 501(c)(3) organization in Nebraska please click to DONATE NOW.    If you have questions or answers, please email us at contact@nebraskaallianceforphysicianadvocacy.org   Please check out our website at: Nebraska Alliance for Physician Advocacy   Follow on social media: @NEAllianceforPhysicianAdvocacy on Instagram Facebook https://www.facebook.com/neallianceforphysicianadvocacy

This week Bobbi Conner talks with MUSC's Dr. Neena Champaigne about checking for hidden health disorders with S.C. newborn screening.

Welcome to the (delayed) 10th & SUMMER BOTOX SPECIAL EPISODE of BSCOS Paediatric Orthopaedic Digest (POD)cast with Caroline Edwards, Head of Childrens Surgery  at Plymouth hospital who started her consultant career at Southampton Childrens Hospital, she set up and developed the neuromuscular service. She proposes a "hub and spoke" model for learning at busy tertiary centres and shared her research on the surgical vulnerability score, a tool to assess the likelihood of early death in patients with neuromuscular disorders. Caroline highlights the challenges faced by young adults transitioning from clinic care for cerebral palsy and suggested district general hospitals could provide dedicated clinics. Listen in to the episode to learn more!   We scoured 35 journals & highlighted the most impactful studies that we feel can change practice or improve outcomes in Paediatric Orthopaedics.  Follow Updates on @BSCOS_UK  REFERENCES: 1.     Skeletal Muscle in Cerebral Palsy: From Belly to Myofibril. Howard JJ &  Herzog W. Front Neurol. Feb 2021. PMID: 33679586 2.     Virtual Reality Distraction Is No Better Than Simple Distraction Techniques for Reducing Pain and Anxiety During Pediatric Orthopaedic Outpatient Procedures: A Randomized Controlled Trial. Fabricant PD et al. Clin Orthop Relat Res. May 2024. PMID: 37939199   3.     Effect of parental touch on relieving acute procedural pain in neonates and parental anxiety (Petal): a multicentre, randomised controlled trial in the UK. Hauck AGV et al. Lancet Child Adolesc Health. April 2024. PMID: 38373429.   4.     REM Sleep Preserves Affective Response to Social Stress-Experimental Study. Halonen et al. eNeuro. June 2024. PMID: 38802242   5.     Functional electrical stimulation during walking in children with unilateral spastic cerebral palsy: A randomized cross-over trial. Moll et al. Dev Med Child Neurol. May 2024. PMID: 37823431.   6.     Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial. Schwartz et al. JAMA Pediatr. June 2024. PMID: 38587854   7.     Surgical management of proximal femoral unicameral bone cyst in children. Maximen et al + SOFOP. Bone Joint J. May 2024. PMID: 38688504   8.     Treatment of Hip Displacement in Children With Cerebral Palsy: A 5-year Comparison of Proximal Femoral Osteotomy and Combined Femoral-Pelvic Osteotomy in 163 Children. Kiapekos N et al. J Pediatr Orthop. July 2024. PMID: 38477355    9.     Impact of Pavlik Harness treatment on motor skills acquisition: A case-control study. Jesus AR et al. J Child Orthop. March 2024. PMID: 39100978   10.  Deep Learning Analysis of Surgical Video Recordings to Assess Nontechnical Skills. Harari RE et al. JAMA Netw Open. July 2024. PMID: 39083274   11.  Single versus double retrograde intramedullary nail technique for treatment of displaced proximal humeral fractures in children: A retrospective cohort study. Samara E et al. J Child Orthop. March 2024. PMID: 38831859   12.  Can the Achilles tendon regenerate completely following percutaneous tenotomy in older children with clubfoot? Aroojis A et al. Int Orthop. June 2024. PMID: 38340143.   13.  Guided Growth With Minifragment Plates for Angular Deformities in the Distal Radius in Skeletally Immature Patients. Preliminary Results. Soler-Jimenez A et al. J Pediatr Orthop. September 2024. PMID: 38767293.   14.  Robot-assisted Temporary Hemiepiphysiodesis With Eight-plates for Lower Extremity Deformities in Children. Liang M et al. J Pediatr Orthop. April 2024. PMID: 38312109    Follow Hosts: @AnishPSangh @AlpsKothari @Pranai_B See as many of you as possible at the BSCOS sessions at the BOA in Birmingham!

Daryl Grigaravicius, founder of Stride, joins us to talk about her personal experience and how she supports fellow autoimmune diseases sufferers After a Pomeranian sadly died on a flight from Bahrain to Dubai, we discuss pets' safety and what owners need to know before travelling with their pets We get details about new screening guidelines for newborns from Dr Amna Khushnud following the UAE Ministry of Health and Prevention's announcement Haus & Haus' Tom Poulson is on the hot seat on our regular Monday real estate focusAnd lawyer Madeleine Mendy from Bin Sevan Advocates answers all your legal questions.See omnystudio.com/listener for privacy information.

Join your host Sophia as she interviews Nelly on her two births and the diagnosis of Spinal Muscular Atrophy for both of her children. They discuss topics including home birth, hospital birth, posterior presentation, cesarean, VBAC, kidney infection, Newborn Screening, geriatric pregnancy (advanced maternal age), and tandem breastfeeding. Nelly is a 2 under 2 mom living off-grid with her husband and a slightly chaotic amount of animals  in Cazadero CA. Learning to work in harmony with and navigate the medical system through two wildly different births and the diagnosis and treatment of both her children who have Spinal Muscular Atrophy- a rare degenerative genetic disease that affects about 1 in 10,000 births. She is passionate about spreading awareness of the disease, treatment, and talking about the importance of newborn screening.  Recommendations by Nelly: •Business of Being Born documentary Connect with Nelly: •IG: @hughescandoit Listen here: IG: linktree in bio FB: @sophiabirth @bayareahomebirth @bornwildmidwifery Stay Wild

Almost every child born in the United States undergoes state-mandated newborn screening within the first 48 hours of life. The blood collected from a "heel stick" helps test for 80 different serious but treatable genetic disorders. These disorders can be either genetic (passed down in families) or congenital (present at birth). But... what if we could go further? What if we could test a newborn's entire genetic sequence? Pediatric geneticist Ingrid Holm discusses the risks, benefits, costs and ethics of genomic sequencing in newborns. Series: "Exploring Ethics" [Health and Medicine] [Humanities] [Science] [Show ID: 39266]

Almost every child born in the United States undergoes state-mandated newborn screening within the first 48 hours of life. The blood collected from a "heel stick" helps test for 80 different serious but treatable genetic disorders. These disorders can be either genetic (passed down in families) or congenital (present at birth). But... what if we could go further? What if we could test a newborn's entire genetic sequence? Pediatric geneticist Ingrid Holm discusses the risks, benefits, costs and ethics of genomic sequencing in newborns. Series: "Exploring Ethics" [Health and Medicine] [Humanities] [Science] [Show ID: 39266]

Almost every child born in the United States undergoes state-mandated newborn screening within the first 48 hours of life. The blood collected from a "heel stick" helps test for 80 different serious but treatable genetic disorders. These disorders can be either genetic (passed down in families) or congenital (present at birth). But... what if we could go further? What if we could test a newborn's entire genetic sequence? Pediatric geneticist Ingrid Holm discusses the risks, benefits, costs and ethics of genomic sequencing in newborns. Series: "Exploring Ethics" [Health and Medicine] [Humanities] [Science] [Show ID: 39266]

Almost every child born in the United States undergoes state-mandated newborn screening within the first 48 hours of life. The blood collected from a "heel stick" helps test for 80 different serious but treatable genetic disorders. These disorders can be either genetic (passed down in families) or congenital (present at birth). But... what if we could go further? What if we could test a newborn's entire genetic sequence? Pediatric geneticist Ingrid Holm discusses the risks, benefits, costs and ethics of genomic sequencing in newborns. Series: "Exploring Ethics" [Health and Medicine] [Humanities] [Science] [Show ID: 39266]

Almost every child born in the United States undergoes state-mandated newborn screening within the first 48 hours of life. The blood collected from a "heel stick" helps test for 80 different serious but treatable genetic disorders. These disorders can be either genetic (passed down in families) or congenital (present at birth). But... what if we could go further? What if we could test a newborn's entire genetic sequence? Pediatric geneticist Ingrid Holm discusses the risks, benefits, costs and ethics of genomic sequencing in newborns. Series: "Exploring Ethics" [Health and Medicine] [Humanities] [Science] [Show ID: 39266]

Almost every child born in the United States undergoes state-mandated newborn screening within the first 48 hours of life. The blood collected from a "heel stick" helps test for 80 different serious but treatable genetic disorders. These disorders can be either genetic (passed down in families) or congenital (present at birth). But... what if we could go further? What if we could test a newborn's entire genetic sequence? Pediatric geneticist Ingrid Holm discusses the risks, benefits, costs and ethics of genomic sequencing in newborns. Series: "Exploring Ethics" [Health and Medicine] [Humanities] [Science] [Show ID: 39266]

Almost every child born in the United States undergoes state-mandated newborn screening within the first 48 hours of life. The blood collected from a "heel stick" helps test for 80 different serious but treatable genetic disorders. These disorders can be either genetic (passed down in families) or congenital (present at birth). But... what if we could go further? What if we could test a newborn's entire genetic sequence? Pediatric geneticist Ingrid Holm discusses the risks, benefits, costs and ethics of genomic sequencing in newborns. Series: "Exploring Ethics" [Health and Medicine] [Humanities] [Science] [Show ID: 39266]

Almost every child born in the United States undergoes state-mandated newborn screening within the first 48 hours of life. The blood collected from a "heel stick" helps test for 80 different serious but treatable genetic disorders. These disorders can be either genetic (passed down in families) or congenital (present at birth). But... what if we could go further? What if we could test a newborn's entire genetic sequence? Pediatric geneticist Ingrid Holm discusses the risks, benefits, costs and ethics of genomic sequencing in newborns. Series: "Exploring Ethics" [Health and Medicine] [Humanities] [Science] [Show ID: 39266]

This podcast episode dives into the screening and management of Duchenne muscular dystrophy, as well as diversity in genetic databases, and treating neuromuscular disorders. Jonathan is joined by Madhuri Hegde, Senior Vice-President & Chief Scientific Officer at Revvity, Inc., to talk about innovation in genomic testing. Use the following timestamps to navigate our episode!   (00:00)-Introduction  (03:54)-Entering into genomic technologies (05:13)-Duchenne muscular dystrophy (10:47)-Revvity and genome sequencing (13:13)-Ultrarapid genomic testing (urWGS) (15:18)-LANTERN project (17:42)-Lack of diversity in genetic databases (20:06)-New developments in genetics (22:19)-COVID-19 testing laboratories (27:27)-Madhuri's wishes for healthcare

Join Stephanie and Maria as they delve into the crucial topic of newborn screenings with special guests Anna Grantham and Aman Dhami-Judge. Their insightful conversation sets the stage for the upcoming BARE 2024 Symposium, where experts will further explore this vital aspect of infant health. To learn more about Hunter's Hope and their mission, visit their website here or connect with them on Facebook. You can also tune in to their podcast, 'Light of Hope,' available here. Understanding Rare Diseases: Krabbe Disease: Krabbe disease is a rare, inherited metabolic disorder characterized by the accumulation of harmful lipids in various cells and tissues, ultimately leading to the destruction of brain cells. Learn more about it here. Biliary Atresia: Biliary atresia affects approximately one in 10,000 children, with a higher prevalence among males and Asian and African-American newborns. Contrary to popular belief, it is not an inherited disease. Find out more here. Share Your Story: If you or someone you know has experience with biliary atresia and would like to share your journey to support our initiative, please reach out to us at contactus@bareinc.org. Let's amplify voices and foster understanding together. Connect With Us: Bare Inc. Instagram Twitter Facebook Support for Life-Saving Transplants: If your child is in need of a life-saving liver transplant due to biliary atresia, reach out to The Children's Organ Transplant Association (COTA). They provide support to families, easing the financial burden of transplants at no cost. Call COTA today at 1-800-366-2682 or visit www.cota.org/getstarted for more information. Music Credits: Background music by Magnetic_Trailer from Pixabay.

In this 16:59-minute podcast episode, Rebecca Sponberg, NP, discusses the role of newborn screening in identifying and managing inborn errors of metabolism. 

With LB1060 we thought it would be helpful to provide a little bit more general information about the newborn screening program in Nebraska. Join us and our expert guest host, Danita Velasco, MD, a pediatric genetic specialist, as she explains the history and process of newborn screening in Nebraska and helps inform our conversation about how this bill would impact medical care in our state. Special Thanks to Gus Hartman who donated his time to mix this episode of Advocacy is Medicine. Link to NE Legislative page for LB1060 for more information: https://nebraskalegislature.gov/bills/view_bill.php?DocumentID=55318 YouTube Video Link: https://www.youtube.com/watch?v=hpfOk2E2R0U Nebraska Alliance for Physician Advocacy is a 501(c)(3) in Nebraska. Like what we are doing? Donate here to help us build more physician support programing around advocacy. https://www.paypal.com/donate/?hosted_button_id=4KF6XCPLQU56Y

Minister for Health Stephen Donnelly has confirmed that Libmeldy – the world's most expensive drug has been approved for use in Ireland. The drug is used to treat Metachromatic leukodystrophy - or MLD, a rare and life-threatening disease that affects the metabolic system in children. Les Martin's eldest son, Cathal, died from the MLD three years ago at the age of six, his younger son Ciaran also suffers from MLD but has benefitted from the drug. Les joined Kieran in studio to discuss...

In this episode we welcome Dr. Wendy Chung, Chair of the Department of Pediatrics at Boston Children's Hospital and Professor at Harvard Medical School. Dr Chung has dedicated much of her career to uncovering the role of genetics in both rare and common diseases, and translating these findings into healthcare. Beyond her incredible science, Wendy has helped shape policy frameworks that govern the world of genetic medicine, and is now leading the pioneering GUARDIAN Study which has provided whole genome screening to >8,000 babies. Join us as we delve into the insights and experiences of a true pioneer in the field of genetics and medicine.

Dr David Bick, Dr Jim Bonham MBE and Henrietta Hopkins re-create a panel from the SSIEM Annual Meeting in 2022 to discuss the use of whole genome sequencing in NBS, asking "are we entering a new era of screening?" Genomic newborn screening: Are we entering a new era of screening? Ute Spiekerkoetter, et al https://doi.org/10.1002/jimd.12650

Dr Sander Houten discusses a child with hyperlysinemia diagnosed via newborn screening and whether this reflects a disease or just a metabolic perturbation. This distinction is relevant as inducing this state may be a treatment option in GA1 or pyridoxine dependent epilepsy. A case of hyperlysinemia identified by urine newborn screening Mehdi Yeganeh, et al https://doi.org/10.1002/jmd2.12399

Newborn Screening, do you know what it is, do you everything about it?  Did you know that people of color are less likely to be diagnosed by newborn screen because in most cases, states test for common mutations, or white mutations. Newborn Screening is a public health program. This is when a dried blood spot is taken from your babies' heel.  NBS is recognized as one of the largest and most successful disease prevention and detection programs in the U.S. it began in 1962 and CF was added in 2007.Our experts have the answers. Dr. Samya Nasr is a pediatric pulmonologist at the University of Michigan, and she is the Coordinator for the NBS since 2007.Mary Kleyn is an epidemiologist for the NBS. She has been with the Michigan Department of Community Health since 2008.Please consider making a donation: https://thebonnellfoundation.org/donate/The Bonnell Foundation website: https://thebonnellfoundation.orgBonnell Foundation email: thebonnellfoundation@gmail.comThanks to our sponsors:Vertex:  https://www.vrtx.comGenentech: https://www.gene.comViatris: https://www.viatris.com/en

In today's episode, Drs. Goble and Saint discuss the Indiana House Bill 1313, Newborn Screening and Lead Screening.    Time Stamp Indiana House Bill 1313 - 2:05 Newborn Screening - 3:23 Parenting Tip on Newborn Screening - 6:21 Lead Screening - 6:53 Trivia - 10:48 Conclusion - 11:31  

In Season 3 we shared the incredible story of the Abner family. But, in honor of the amazing announcement of the $1 Million Endowment in honor of their daughter Katelynn, we want to share their story again! This endowment was given in honor of Katelynn Abner (10/31/08 – 7/4/14) and will establish the “Katelynn's Butterfly Kisses Program”, ensuring that the legacy of Katelynn will continue for years to come. The Katelynn's Butterfly Kisses Program provides support for individuals with Metachromatic Leukodystrophy (MLD), Newborn Screening, the Leukodystrophy Care Network (LCN), MLD Families, and Sibling Support, with priority given to military families affected by Leukodystrophy.The Abner family's dedication to the legacy of Katelynn is evident in all they do to make a difference each day in their lives. Hunter's Hope is honored to partner with the Abner family to help families through the Katelynn's Butterfly Kisses Program.To learn more about Katelynn's Butterfly Kisses, please visit: https://www.huntershope.org/home/partners/katelynns-butterfly-kisses/Shop HH x MH Collection here.Learn more about our Podcast, Episode Guests and Hunter's Hope here.

We have an amazing announcement that we want to share with all of you! Some incredible things are happening at Hunter's Hope, and we are so thankful for God's provision.Jill interviewed Chris and Kristal Abner to share this amazing news!Hunter's Hope Foundation is excited to announce a $1 Million Endowment from an anonymous donor!This endowment was given in honor of Katelynn Abner (10/31/08 – 7/4/14) and will establish the “Katelynn's Butterfly Kisses Program”, ensuring that the legacy of Katelynn will continue for years to come. We are honored to share this exciting news today, October 31st, on what would have been Katelynn's 15th birthday.The Katelynn's Butterfly Kisses Program provides support for individuals with Metachromatic Leukodystrophy (MLD), Newborn Screening, the Leukodystrophy Care Network (LCN), MLD Families, and Sibling Support, with priority given to military families affected by Leukodystrophy.The Abner family's dedication to the legacy of Katelynn is evident in all they do to make a difference each day in their lives. Hunter's Hope is honored to partner with the Abner family to help families through Katelynn's Butterfly Kisses Program.To learn more about Katelynn's Butterfly Kisses, please visit: https://www.huntershope.org/home/partners/katelynns-butterfly-kisses/Shop HH x MH Collection here.Learn more about our Podcast, Episode Guests and Hunter's Hope here.

Dr. Jennifer Taylor-Cousar is an amazing woman I can't wait to meet in person one day.  She is a Board Certified Pediatric and adult pulmonologist at National Jewish Health in Colorado. She's a rock star in the world of CF, and she's doing incredible work raising awareness about systemic and individual bias and racism in medicine. She also talks about the importance of representation in the field of medicine. I hope after you hear this podcast you are more inspired to speak up and do more to change the world.About Dr. Taylor-Cousar:Dr. Taylor-Cousar is a tenured professor of adult and pediatric pulmonary medicine at NationalJewish Health (NJHhttps://www.nationaljewish.org/home), where she serves as the Medical Director of Clinical Research Services,President of the Medical Staff, and is co-director of the Adult Cystic Fibrosis (CF) Program andDirector of the CF Therapeutics Development Network (TDN) center. She received herundergraduate degree in human biology from Stanford University, and completed her doctoratein medicine, combined residency in internal medicine and pediatrics, and her combinedfellowship in adult and pediatric pulmonary medicine at Duke University. She obtained herMaster of Clinical Science from the University of Colorado.Dr. Taylor-Cousar's expertise is clinical trial design and conduct; she has been national/globalprimary investigator on multiple CF TDN trials. Her investigator-initiated research focuses onthe development and evaluation of novel therapies for the treatment of CF, and on sexual andreproductive health in people with CF. Additionally, she serves on a number of nationalscientific advisory committees for the Cystic Fibrosis Foundation, American Thoracic Societyand the National Institutes of Health. She is an Associate Editor for the Journal of Cystic Fibrosisand a member of the International Advisory Board for the Lancet Respiratory Medicine.Dr. Taylor-Cousar is an elected member of the American Society for Clinical Investigation(ASCI). Her recent awards include the American Thoracic Society's Distinguished AchievementAward (2023,) the American Thoracic Society William J. Martin II Public Advisory RoundTable Distinguished Achievement Award (2022), the Emily's Entourage CF Trailblazer Award(2022) and the Cystic Fibrosis Research Incorporated CF Champion Award (2021).Michele and Terry Wright screening tool: https://noaacf.org/the-wright-cystic-fibrosis-screening-tool/Please consider making a donation: https://thebonnellfoundation.org/donate/The Bonnell Foundation website: https://thebonnellfoundation.orgBonnell Foundation email: thebonnellfoundation@gmail.comThanks to our sponsors:Vertex:  https://www.vrtx.comGenentech: https://www.gene.comViatris: https://www.viatris.com/en

Miracles happen every day and it's an honor when we can celebrate them. This year marks the 60th anniversary of the start of newborn screening in the United States. The program identifies infants with specific genetic conditions that are asymptomatic at birth and ensures they can receive prompt, lifesaving medical interventions. Over its lifespan, the program has saved countless lives. New research and technological advancements have allowed for innovation and enhanced abilities to screen for certain disorders. Today, newborn screening has evolved into one of the most effective public health programs in the country and its impact won't stop anytime soon. On this 60th anniversary, experts are celebrating successes while still trying to improve current processes. “False positives are the Achilles' heel of newborn screening. I know we always think about not missing a case, but the harms are almost all associated with telling a parent their child is positive when they aren't. Some of these treatments are time critical,” says Ned Calonge, MD, one of our guests on today's episode and the Chief Medical Officer for the Colorado Department of Public Health and Environment.   Dr. Calonge is joined by Stacey Martiniano, MD, a physician here at Children's Hospital Colorado and Gregory Bonn, the Colorado newborn screening program manager. They are three experts behind some of the early intervention that ensures every child can live the healthiest life possible. “My favorite part is helping them stay as healthy as possible, live full lives and keeping that relationship with them throughout their childhood and young adulthood,” Dr. Martiniano says.  Some highlights from today's episode include:   Variations of newborn screening programs in different states and countries How technology has advanced what's possible to identify and treat The history of how the program was created What's on the horizon for newborn screening For more information on Children's Hospital Colorado, visit: childrenscolorado.org 

This week Bobbi Conner talks with Dr. Neena Champaigne about newborn screening in S.C., which now tests for 54 disorders shortly after birth. Dr. Champaigne is an Associate Professor in the College of Medicine and Division Chief of Pediatric Genetics at MUSC.

In this episode of the G Word, Naimah Callachand, Head of Product Marketing at Genomics England, is joined by Dr Rich Scott, Chief Medical Officer and Deputy CEO at Genomics England, and Professor Zornitza Stark, clinical geneticist at the Victorian Clinical Genetic Services in Melbourne, to discuss their recent paper published in the Nature Review's Genetics journal on 'Genomic newborn screening for rare diseases'. Rich and Zornitza discuss and compare newborn screening practices on a global scale, and delve into the benefits and challenges of incorporating genomic sequencing into newborn screening. Read the full review paper here.  You can read the transcript here: Genomic-newborn-screening-for-rare-diseases.docx   "We're just also on the cusp of what feels like a really potential game-changing period in terms of the availability of treatments and interventions for rare conditions."  

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?  

If you have had a baby in the last 15 years, you most likely did a newborn screening. This is where they prick the baby's heel, collect a few drops on a screening card and send it off to the lab to test for 30+ different genetic disorders and conditions. And of course, it's just not as simple as that.. So let's get informed!

Dr. Demetre Daskalakis, Deputy Coordinator of the Mpox National Response for the White House, shares steps public health leaders can take to protect against a potential rise in Mpox cases; Christina Severin, Director of Public Health Law at ASTHO, says newborn screening policies often vary by jurisdiction; ASTHO celebrates the success of a pandemic-era program to help agencies better serve people with disabilities during public health emergencies; and register for a webinar to learn how two project pilot sites that are part of ASTHO's Vaccine Equity Project used partnerships to improve vaccine uptake.   CDC: Get Healthy and Ready for Summer | LGBT Health | CDC ASTHO Webpage: Handle with Care: State Newborn Screening Policies ASTHO Webpage: ASTHO Specialist Program Makes Lasting Preparedness Improvements for People with Disabilities ASTHO Webinar: Partnerships for Progress: An Intro to the Vaccine Equity Project   

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?

Find out more about Beth and our guests at: www.the-incubator.org/121/____________________________________________________________________As always, feel free to send us questions, comments or suggestions to our email: nicupodcast@gmail.com. You can also contact the show through instagram or twitter, @nicupodcast. Or contact Ben and Daphna directly via their twitter profiles: @drnicu and @doctordaphnamd. enjoy!This podcast is proudly sponsored by Chiesi.

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?

On February 9th, Jill Kelly shared Hunter's story before the Federal Newborn Screening Advisory Committee.Along with other families, doctors, and foundations, Hunter's Hope has been trying to get Krabbe disease on the Federal Newborn Screening Panel for almost two decades so that every child born in the United States is screened at birth and diagnosed in time to receive life saving treatment.The decision made by this committee is a matter of life and death.If Hunter was screened at birth for Krabbe disease he might still be here today.But he was not screened at birth and therefore he was never able to get life saving treatment.Jill shares the shocking results of the committee's decision and how it affects every child born in the United States.If you would like more information regarding Newborn Screening and how you can help us, please visit the Hunter's Hope website here.Shop HH x MH Collection here.Learn more about our Podcast, Episode Guests and Hunter's Hope here.

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?    

Dr. Judith Fridovich-Keil joined the faculty at Emory in 1991. She is currently a professor in the department of Human Genetics, School of Medicine at Emory. Her research focus: inborn errors of metabolism (galactosemia). Dr. Fridovich-Keil received her AB in Biochemistry, Princeton University (1983), and her PhD in Biology from MIT (1988). She completed her postdoctoral training at Dana Farber Cancer Institute and Harvard Medical School (1988-91) and is board certified by the American Board of Medical Genetics and Genomics in Clinical Medical Genetics (1996 - present). Dr. Fridovich-Keil grew up in Durham, NC. My husband, Mark, and has been married for 38 year. She and her husband are the proud parents of two adult children. Newborn Screening Tests Galactosemia Foundation

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?  

Tune in to Episode 23 of Season 18 for demented doctoring. “Newborn Screening” written by Lisel Jones (Story starts around 00:00:00) TRIGGER WARNING! Produced by: Phil Michalski Cast: Doctor – Jake Benson, Mrs. Murray – Tanja Milojevic “Grasshopper” written by Ellen Denton (Story starts around 00:04:50) TRIGGER WARNING! Produced by: Phil Michalski Cast: Narrator – Danielle McRae, Emily Linus – Kristen DiMercurio, Anna Linus – Mary Murphy “Hands On” written by Gabrielle E. Josefsson (Story starts around 00:38:15) Produced by: Phil Michalski Cast: Jason Woods – Dan Zappulla “Reunion” written by M.J. Pack (Story starts around 00:52:05) TRIGGER WARNING! Produced by: Jeff Clement Cast: Molly – Erin Lillis, Mary – Sarah Ruth Thomas, Elaine – Nichole Goodnight, Old Woman – Mary Murphy, Molly's Mom – Linsay Rousseau, Trevor – Atticus Jackson, Edward – Jesse Cornett “The Voice in the Compactor” written by Manen Lyset (Story starts around 01:08:15) Produced & scored by: David Cummings Cast: Narrator – David Cummings, Janitor – Jeff Clement, Voice – Kelly Bair “Beauty Beat” written by Casey Banks (Story starts around 01:15:00) TRIGGER WARNING! Produced by: Jesse Cornett Cast: Narrator – Graham Rowat, Larry – Elie Hirschman, Harrison – Jesse Cornett, Hannah – Wafiyyah White, Victoria – Nikolle Doolin, Dr. Telles – Peter Lewis Click here to learn more about The NoSleep Podcast team Click here to learn more about Lisel Jones Click here to learn more about M.J. Pack Click here to learn more about Manen Lyset Executive Producer & Host: David Cummings Musical score composed by: Brandon Boone “Reunion” illustration courtesy of Emily Cannon Audio program ©2022 – Creative Reason Media Inc. – All Rights Reserved – No reproduction or use of this content is permitted without the express written consent of Creative Reason Media Inc. The copyrights for each story are held by the respective authors. Learn more about your ad choices. Visit megaphone.fm/adchoices

Tune in to Episode 23 of Season 18 for demented doctoring. “Newborn Screening” written by Lisel Jones (Story starts around 00:00:00) TRIGGER WARNING! Produced by: Phil Michalski Cast: Doctor – Jake Benson, Mrs. Murray – Tanja Milojevic “Grasshopper” written by Ellen Denton (Story starts around 00:04:50) TRIGGER WARNING! Produced by: Phil Michalski Cast: Narrator – Danielle McRae, Emily Linus – Kristen DiMercurio, Anna Linus – Mary Murphy “Hands On” written by Gabrielle E. Josefsson (Story starts around 00:38:15) Produced by: Phil Michalski Cast: Jason Woods – Dan Zappulla “Reunion” written by M.J. Pack (Story starts around 00:52:05) TRIGGER WARNING! Produced by: Jeff Clement Cast: Molly – Erin Lillis, Mary – Sarah Ruth Thomas, Elaine – Nichole Goodnight, Old Woman – Mary Murphy, Molly's Mom – Linsay Rousseau, Trevor – Atticus Jackson, Edward – Jesse Cornett “The Voice in the Compactor” written by Manen Lyset (Story starts around 01:08:15) Produced & scored by: David Cummings Cast: Narrator – David Cummings, Janitor – Jeff Clement, Voice – Kelly Bair “Beauty Beat” written by Casey Banks (Story starts around 01:15:00) TRIGGER WARNING! Produced by: Jesse Cornett Cast: Narrator – Graham Rowat, Larry – Elie Hirschman, Harrison – Jesse Cornett, Hannah – Wafiyyah White, Victoria – Nikolle Doolin, Dr. Telles – Peter Lewis Click here to learn more about The NoSleep Podcast team Click here to learn more about Lisel Jones Click here to learn more about M.J. Pack Click here to learn more about Manen Lyset Executive Producer & Host: David Cummings Musical score composed by: Brandon Boone “Reunion” illustration courtesy of Emily Cannon Audio program ©2022 – Creative Reason Media Inc. – All Rights Reserved – No reproduction or use of this content is permitted without the express written consent of Creative Reason Media Inc. The copyrights for each story are held by the respective authors. Learn more about your ad choices. Visit megaphone.fm/adchoices

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?

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 this episode: We are back talking with Mike Hu about Project GUARDIAN. Project GUARDIAN advocates for and supports sequencing based newborn screening to identify pre-symptomatic patients who can either benefit from early intervention using existing treatments or eligible for clinical trials of novel treatments, at a disease stage when treatment could be maximally efficacious. We discuss what genome sequencing is and the role it can play in diagnosis of rare diseases in the future. We also discussed epigenetic modifications that are specific to an individual. How is genomic sequencing different than mass spectrometry and how could it transform newborn screening? Mike unpacks his vision. When we talk about expansion of the newborn screening system, it is necessary to introduce new platforms that go beyond mass spectrometry, and genomic sequencing is a suitable one. We discuss the challenges introducing large scale sequence based newborn screening studies in the US.  The  National MPS Society exists to cure, support, and advocate for MPS and ML.If you like Our Voices, visit our website and follow us on social media on Facebook, Instagram, Twitter, and LinkedIn. And if you like the podcast, we'd appreciate you telling a friend (maybe even two).      

ONCE UPON A GENE - EPISODE 134 The Critical Role of Newborn Screening - Rare Mom Alison Breitbarth and Infantile Pompe Disease Alison Breitbarth's son was the first baby in the state of Indiana to be screened for Pompe Disease and receive a positive result. She joins me to talk about the importance of newborn screening. EPISODE HIGHLIGHTS Where does your diagnosis journey begin? Ten days after my son Grant was born, I received a call about results from his newborn screening that indicated he was flagged for Pompe Disease and they were doing further testing. We met with the genetic counselor and learned Grant had the infantile onset form of Pompe Disease, which is the most severe form. Because he was diagnosed through newborn screening, he was able to receive his first infusion at three weeks old and never had a symptom of the disease before treatment. Today, he's doing really well. What is the current treatment for Pompe Disease? An infusion takes about 5 hours and Grant receives them once a week. He will receive his 55th infusion this week and will have them for the rest of his life, or until another treatment becomes available.  What questions do you get from your older son and how do you address them? We've always been honest with Connor, but not gone into much detail. He knows Grant needs medicine every week to keep him healthy. He hasn't asked a lot of questions, but he's starting to understand that everyone has different needs. For example, we've talked about how Connor has Hemophilia, so we have compared how he bruises easily and Grant doesn't.  What is it like integrating with the Pompe Disease community with a child who was diagnosed through newborn screening with immediate treatment options? There are other kids who were diagnosed through newborn screening, but had symptoms right away. The Pompe Disease community is amazing and I've connected with amazing parents who have given me the hope I've needed in the past year.  What are your plans for advocacy? We're in the beginning stages of starting a foundation to raise awareness, help with fundraising efforts for Pompe research, and help families who need assistance getting to see a specialist. International Pompe Day is April 15th and we hope to share more by then. LINKS & RESOURCES MENTIONED Seattle Rare Disease Fair www.rarediseasefair.com ONCE UPON A GENE - Episode 119 - One of the Youngest Children to be Given Treatment for Spinal Muscular Atrophy I with Kathryn Alexander https://effieparks.com/podcast/episode-119-kathryn-alexander CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/