Outsmart Your Genes

Dr. Ben Lynch, a pioneer in epigenetics and founder of Seeking Health, shares insights on optimizing health through DNA understanding. He introduces StrateGene, a transformative tool that maps genetic pathways for personalized health plans. Avoiding oversimplified genetic reports, Dr. Lynch emphasizes how lifestyle and environmental factors influence gene expression. He discusses the Dirty Genes concept, warning against misleading supplement recommendations. His strategic approach encourages individuals to leverage genetic insights for better nutrition and wellness.

In this episode, we explore Nicole Castellano's remarkable journey from her diverse career as a pilot, world-class skater, and entrepreneur to confronting a mysterious illness that began a 12-year diagnostic odyssey. We discuss the challenges inherent in diagnosing rare conditions like porphyria, the transformative role of genetic testing, and the critical importance of patient advocacy. Nicole, who now serves as the executive director of the American Porphyria Foundation, shares her personal experiences and offers insights into how advanced technologies like whole genome sequencing, combined with increased patient empowerment, can significantly reduce diagnostic timelines and restore hope for individuals living with rare diseases.What You'll Learn:Nicole Castellano's Personal Journey: Her life before porphyria, the onset of her illness, the long diagnostic odyssey (12 years, numerous doctors and misdiagnoses), and her eventual diagnosis and advocacy work.    Porphyria: The nature of the disease, its symptoms, the challenges in diagnosis, and the different types (acute hepatic porphyria, cutaneous porphyrias, etc.).    The Diagnostic Odyssey: The difficulties and delays in obtaining a correct diagnosis for rare diseases.    The Role of Genetic Testing: The importance of genetic and biochemical testing in diagnosing porphyria, the limitations of current testing methods, and the potential of whole genome sequencing.    Patient Empowerment and Advocacy: The importance of patients and families advocating for themselves, the role of support groups and online resources, and the need for greater awareness among healthcare professionals.    The American Porphyria Foundation (APF): Its role in supporting patients, providing resources, and working to improve diagnosis and treatment.    Innovations in Healthcare: The potential of AI and precision medicine to improve diagnosis and treatment of rare diseases.    https://porphyriafoundation.org/LINKShttps://sequencing.com/

In this episode of Outsmart Your Genes, Dr. Jeremy Koenig sits down with Dr. Jason Siefferman, a triple board-certified physician specializing in physical medicine, rehabilitation, interventional pain medicine, and headache medicine. As the founder and medical director of Manhattan Pain Medicine, Dr. Siefferman shares his expertise in diagnosing and treating complex pain conditions, particularly in patients with hypermobility spectrum disorders and Ehlers-Danlos Syndrome (EDS). He discusses his unique journey from studying music to medicine, highlighting the parallels between the two disciplines in collaboration and patient care. Dr. Siefferman delves into the challenges of treating chronic pain, the importance of understanding its root causes, and how regenerative medicine, including prolotherapy and platelet-rich plasma (PRP) therapy, is revolutionizing care for hypermobility-related pain. He also explores the role of genetics in precision medicine, the potential of AI in diagnostics, and his vision for advancing research in pain management. Tune in for an insightful discussion on redefining chronic pain treatment and integrating genetic insights into patient care.What You'll Learn:Dr. Jason Siefferman's Expertise – Triple board-certified in physical medicine, rehabilitation, interventional pain medicine, and headache medicine.Manhattan Pain Medicine – Multidisciplinary approach to diagnosing and treating complex pain conditions.Music & Medicine Connection – How Dr. Siefferman’s background in music influences his patient care approach.Challenges in Chronic Pain Treatment – The need to understand the root cause of pain rather than just treating symptoms.Hypermobility Spectrum Disorders & EDS – Diagnosis, treatment, and challenges in managing these conditions.Regenerative Medicine – Use of prolotherapy and platelet-rich plasma (PRP) to strengthen ligaments and stabilize joints.Genetics in Pain Medicine – Role of DNA-driven diagnostics in precision-based treatment models.Artificial Intelligence in Healthcare – Potential for AI to enhance diagnostics and research in pain management.Future of Pain Management – The need for more clinical studies and standardization of treatment protocols for hypermobility disorders.Collaboration in Medicine – Importance of interdisciplinary teamwork in improving patient outcomes.Connect with Dr. Jason: https://www.linkedin.com/in/jsiefferman/#Sequencing #WholeGenomeSequencing #WGS #DNATesting #GeneticTesting #GeneTesting #EhlersDanlosSyndrome #EDS #HypermobileEDS #HealthTech #PrecisionMedicine #Genomics #BiotechLINKShttps://sequencing.com/

In this engaging conversation, Denise Morrow, a patient advocate and the founder of Genetics for Health, shares her remarkable journey from suffering with undiagnosed health issues to discovering a primary CoQ10 deficiency through whole genome sequencing. She discusses the transformative power of genetic data in unveiling rare diseases and her mission to empower others with similar experiences. Together with Dr. Karen Erbs, Denise aims to bridge patient-led genomic insights with clinical practice, making personalized medicine accessible for all.

Dr. Brandon Colby, a geneticist and CEO of Sequencing, shares his personal journey with a rare genetic disease that inspired his mission in predictive medicine. He discusses the transformative power of whole genome sequencing, emphasizing its shift from reactive to proactive healthcare. Colby highlights the importance of actionable genetic insights and tools like NextGen Disease Screen and HealthScan, which empower individuals to make informed health choices. He also addresses privacy concerns and envisions routine newborn sequencing as a future standard, aiming to end diagnostic odysseys.