Rare and Orphan Diseases

Rare and Orphan Diseases

By ReachMDMedicine
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Rare and Orphan Diseases episodes

  • Transforming C3G Care: New Advances in Targeted Treatment
    Guest: Anuja Java, MD

    With the recent approval of iptacopan and promising data on pegcetacoplan emerging, targeted therapy is becoming a reality for patients with complement 3 glomerulopathy (C3G). Hear from Dr. Gates Colbert and Dr. Anuja Java as they dive into the details of newer treatments, key considerations for patient monitoring, and the role of precision medicine in patient care. Dr. Java is an Assistant Professor of Medicine in the Division of Nephrology at Washington University School of Medicine and the Director of the Kidney Transplant Clinic at John Cochran Veterans Hospital in Missouri.

    7 min
  • Identifying C3G: Key Diagnostic Considerations and Challenges
    Guest: Anuja Java, MD

    Complement 3 glomerulopathy (C3G) presents complex diagnostic hurdles due to its rarity, clinical heterogeneity, and lack of definitive biomarkers. Tune in to hear Dr. Gates Colbert and Dr. Anuja Java discuss the need for improved biomarker development, our evolving understanding of complement dysregulation, and the importance of multidisciplinary awareness in advancing timely and accurate diagnosis. Dr. Java is an Associate Professor of Medicine in the Division of Nephrology at Washington University School of Medicine and the Director of the Kidney Transplant Clinic at John Cochran Veterans Hospital in Missouri.

    9 min
  • Examining Key Factors in IgAN: The Role of B Cells and BAFF/APRIL
    Host: Charles Turck, PharmD, BCPS, BCCCP
    Guest: Jonathan Barratt, MD, PhD

    New insights into B-cell dysregulation are reshaping our understanding of IgA nephropathy (IgAN), and the BAFF/APRIL pathway in particular is being studied for its role in driving immune complex formation, glomerular injury, and disease progression. Joining Dr. Charles Turck to discuss B-cell dysregulation and its potential impacts on the IgAN treatment landscape is Dr. Jonathan Barratt. Dr. Barratt is the Mayor Professor of Renal Medicine at the University of Leicester in the United Kingdom, where he also leads the Renal Research Group.

    9 min
  • IgA Nephropathy Care: Ensuring Timely Detection and Intervention
    Host: Gates B. Colbert, MD
    Guest: Meghan Sise, MD
    Guest: Ellie Kelepouris, MD, FACP, FAHA

    Early detection of IgA nephropathy (IgAN) is often missed due to its subtle presentation, leading to delays in critical care. However, knowing the red-flag signs and symptoms to look out for can help improve timely diagnosis and intervention. Joining Dr. Gates Colbert to discuss practical strategies for identifying IgAN early are Drs. Meghan Sise and Ellie Kelepouris. Dr. Sise is the Director of Onconephrology at Massachusetts General Hospital and Associate Professor of Medicine at Harvard Medical School, and Dr. Kelepouris is the Director of the Outpatient Dialysis Program and a Professor of Clinical Medicine at Penn Medicine.

    10 min
  • Understanding IgAN: More Than a Benign Disease
    Host: Brian P. McDonough, MD, FAAFP
    Guest: Suneel Udani, MD

    Over the past several decades, IgA nephropathy (IgAN) has gone from being regarded as relatively harmless to being recognized as a progressive, high-risk disease. With this new understanding, early diagnosis and strategic intervention are more critical than ever. Tune in as Dr. Suneel Udani, a nephrologist with Nephrology Associates of Northern Illinois, joins Dr. Brian McDonough to examine the key factors in detecting and treating IgAN.

    10 min
  • Empowering Patients with CIDP: Education, Support, and Personalized Care Strategies
    Guest: Danielle Minetti
    Host: Ryan Quigley

    Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) presents unique challenges for newly diagnosed patients and their caregivers. Meeting patients where they are, identifying common misconceptions, and providing effective and individualized education can go a long way in creating an engaging management plan. Mr. Ryan Quigley sits down with Ms. Danielle Minetti to learn more about actionable approaches to support informed and empowered decision-making across the care continuum. Ms. Minetti is a clinical nurse educator and the creator of Lucid Med, an online platform focusing on chronic illness education.

    0 min
  • New Frontiers in CIDP Care: Exploring Approved and Emerging Therapies
    Guest: Chafic Karam, MD
    Host: Ryan Quigley

    Treatment options for chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) are rapidly advancing, with new approaches reshaping clinical decision-making. In this expert-led discussion, Mr. Ryan Quigley speaks with Dr. Chafic Karam, Professor of Clinical Neurology and Chief of the Neuromuscular Division at the University of Pennsylvania, about the latest FDA-approved therapies—including subcutaneous immunoglobulin and efgartigimod—and the promise of complement inhibition therapies in ongoing trials.

    11 min
  • How Diagnostic Delays in gMG Impact Disease Severity, Outcomes, and Quality of Life
    Guest: John A. Morren, MD, FAAN, FAANEM

    The symptom variability, prolonged asymptomatic periods, and inconsistent presentations of generalized myasthenia gravis (gMG) often lead to significant diagnostic delays and misdiagnoses. Based on recent studies, these delays then correlate with increased disease severity, longer time to symptom control, and worsened quality of life. Here to help uncover the hidden toll of diagnostic delays on patients with gMG is Dr. John Morren. He’s the Program Director of the Neuromuscular Medicine Fellowship at Cleveland Clinic and an Associate Professor of Neurology at Cleveland Clinic Lerner College of Medicine of Case Western Reserve University.

    5 min
  • Evolving Strategies in Limited-Stage Small Cell Lung Cancer Management
    Host: Gerard A. Silvestri MD, MS, Master FCCP
    Guest: Anurag Singh, MD
    Guest: Adam H. Fox, MD, MSc
    Guest: Mariam Alexander, MD, PhD

    Recent therapeutic advances are reshaping our approach to limited-stage small cell lung cancer. In this multidisciplinary discussion, Dr. Gerard Silvestri sits down with Drs. Adam Fox, Mariam Alexander, and Anurag Singh to explore the evolving standard of care and practical considerations for timely and effective care. Dr. Silvestri is a pulmonologist and the Hillenbrand Professor of Thoracic Oncology at the Medical University of South Carolina. Dr. Fox is a pulmonologist and Assistant Professor of Medicine at the Medical University of South Carolina. Dr. Alexander is a medical oncologist and Assistant Professor of Medicine at the Medical University of South Carolina. Dr. Singh is a Professor of Radiation Oncology and the Director of Radiation Research at the Roswell Park Cancer Center in New York.

    This program is produced in partnership with the American College of Chest Physicians and is sponsored by AstraZeneca.

    19 min
  • Understanding Extensive-Stage Small Cell Lung Cancer: Advancements and Ongoing Challenges
    Host: Gerard A. Silvestri MD, MS, Master FCCP
    Guest: Anurag Singh, MD
    Guest: Adam H. Fox, MD, MSc
    Guest: Mariam Alexander, MD, PhD

    Despite the typically poor prognosis of extensive-stage small cell lung cancer, recent advancements are reshaping clinical perspectives on treatment. New and emerging options show promise for prolonged survival and improved quality of life. Join Drs. Gerard Silvestri, Adam Fox, Mariam Alexander, and Anurag Singh as they discuss how the therapeutic landscape is evolving for these patients. Silvestri is a pulmonologist and the Hillenbrand Professor of Thoracic Oncology at the Medical University of South Carolina. Dr. Fox is a pulmonologist and Assistant Professor of Medicine at the Medical University of South Carolina. Dr. Alexander is a medical oncologist and Assistant Professor of Medicine at the Medical University of South Carolina. Dr. Singh is a Professor of Radiation Oncology and the Director of Radiation Research at the Roswell Park Cancer Center in New York.

    This program is produced in partnership with the American College of Chest Physicians and is sponsored by AstraZeneca.

    18 min