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Rare Discussions — 194 episodes · page 1 of 2
Breakthrough Therapy Designation to Cimzia for Antiphospholipid Syndrome
FDA Approves Gazyva for Idiopathic Nephrotic Syndrome, Offering a New Treatment Option
New Stem Cell Method Could Advance Research Into Spinal Muscular Atrophy
Revumenib + Chemotherapy in Newly Diagnosed AML With NPM1 Mutation: Phase 3 REVEAL-ND Study
Taletrectinib for ROS1-Positive Non-Small Cell Lung Cancer
Plasma Proteomics May Predict Disease Manifestations in ALS
Priority Review for Dersimelagon in the Treatment of EPP and XLP
A Patient’s Journey With Essential Thrombocythemia and Polycythemia Vera
FDA CDER’s Accelerating Rare Disease Cures Program
Zilganersen for the Treatment of Alexander Disease
What to Expect: 2026 MGFA Scientific Session
Topline Results From the SANRECO Trial Testing Divesiran in Polycythemia Vera
Results From the Voice of PBC Patient Survey
Approval of Imaavy (Nipocalimab) and its Impact on Patients With Warm Autoimmune Hemolytic Anemia
Spinal Muscular Atrophy: The Changing Definition of Success. An Expert Panel on the Evolution of SMA Care.
Growth Hormone Deficiency: Causes, Early Detection, and Treatment (Robert Rapaport, MD)
Arginine Vasopressin Deficiency (AVP-D) Overview (Christopher Romero, MD)
Systemic Mastocytosis: Recognition, Diagnosis, and Clinical Management
Prader-Willi Syndrome: Clinical Features and Early Identification
Submission of New Drug Application: Rusfertide for Polycythemia Vera
Current Issues in Gene Therapies for Lysosomal Disorders
Theranostics and Lysosomal Disorders
Expanded Applications of AI in Lysosomal Disorders
Organoids and Lab-Grown Models in Lysosomal Disorders
Nanotechnology and Lysosomal Disorders
AI in Medicine: Transforming the Landscape of Tissue-Based Diagnostics
Chapter 8: Gene Therapy Discussion and Q&A
Chapter 7: Changes in Gene Therapy Programs to Lessons Learned from Recent Trials
Chapter 6: Understanding and Preparing Risk Factors Associated With AAV Gene Therapies
Chapter 5: Factors Impacting Safety and Efficacy of AAV Mediated Gene Therapies
Ch 4: Clinical Safety and Efficacy Observed in AAV Mediated Gene Therapy Programs in DMD, SMA, XLMTM
Ch 3: Mitigation Strategies to Address the Challenges in the Development of Gene Therapy Programs
Chapter 2: AAV Mediated Gene Therapies
Chapter 1: Introduction to Gene Directed Therapies
Chapter 8: Gene Therapy Discussion and Q&A
Chapter 7: Ongoing Gene Therapies in Lysosomal Disorders
Chapter 6: Gene Replacement Therapy in Lysosomal Disorders
Chapter 5: Current Treatment Landscape and Limitations
Chapter 4: Lessons Learnt from Gene Therapy Trials
Chapter 3: Immune Responses and Other Safety Concerns Related to Gene Therapies
Chapter 2: Vectors, Different Strategies, Modes of Administration, and Targets
Chapter 1: Lysosomal Disorders and the Potential for Gene Therapies
Catching the Clues, Changing the Course of Lysosomal Storage Disorders
Consider Rare: Suspecting and Diagnosing CIDP
Lysosomal Disorders and the Brain
Case Studies in Diagnosing and Managing FOP
Immune Thrombocytopenia (ITP) Research Highlights: ISTH 2025
Immune Thrombotic Thrombocytopenic Purpura (iTTP) Research Highlights: ISTH 2025
Hemophilia Research Highlights: ISTH 2025
Myasthenia Gravis Clinical Research Highlights: AAN 2025
Mastocytosis Control Test: Implications for Physicians
Skeletal Involvement in Lysosomal Disorders
Fabry Disease Research Highlights
Consider Rare: Suspecting and Diagnosing Fibrodysplasia Ossificans Progressiva (FOP)
Progressive Familial Intrahepatic Cholestasis (PFIC): Diagnosing, Treating, Monitoring
Transforming Clinical Outcomes With Early Treatment of Lysosomal Disorders
PAH Research Highlights: CHEST 2024
Consider Rare: Suspecting and Diagnosing Hereditary Angioedema (HAE)
Improving Health Equity in Hereditary Angioedema (HAE): A Panel Discussion
Optimizing Therapeutic Proteins Through PEGylation: Key Parameters and Impacts
Hematologic Malignancies and Clinical Trial Participations: A Shared Decision-Making Approach
FcRn and Myasthenia Gravis
FcRn and Myasthenia Gravis: Pathophysiology
FCRn and Myasthenia Gravis: Treatment Options
Cushing’s Syndrome Treatment Research Highlights: ENDO 2024Continuing Education
CTCL: Shortening the Diagnostic Journey and Starting Treatment Early
CTCL: The Role of Dermatologists in Diagnosing and Caring for Patients
Myasthenia Gravis Research Highlights: AAN 2024
Fabry Disease From a Patient’s Perspective, Featuring Maya Kineen
Signs and Symptoms of Fabry Disease, Featuring Nicola Longo, MD
Fabry Disease Overview, Featuring William Burns, MD
Kidney Involvement in Lysosomal Disorders
HAE Treatment Advances: Highlights from ACAAI
Hereditary Angioedema: Current Treatment Options
Assessing, Monitoring, and Managing Respiratory Involvement in Lysosomal Disorders
Hereditary Angioedema: Current and Future Treatment Options
Alpha-Mannosidosis From a Mom’s Perspective, Featuring Rhonda Skipper
Diagnosing and Managing Alpha-Mannosidosis, Featuring Markey McNutt, MD, PhD
Signs and Symptoms of Alpha-Mannosidosis, Featuring Reid Sutton, MD
Alpha-Mannosidosis Overview, Featuring Laura Buch, MSPAS, PA-C
Myasthenia Gravis and the Complement System: Treatment Options
Myasthenia Gravis and the Complement System: Pathophysiology
Myasthenia Gravis and the Complement System
New Guidance To Treat Tumor-induced Osteomalacia (TIO)
New Guidance To Diagnose Tumor-induced Osteomalacia (TIO)
New Guidance To Diagnose and Treat Tumor-induced Osteomalacia (TIO)
Cushing's Disease Research Highlights: ENDO 2023
CME: Managing Cardiomyopathies in Lysosomal Disorders
Acromegaly Research Highlights: ENDO 2023
Thyroid Eye Disease: Overview, Diagnosis, and Treatment Options
Myasthenia Gravis Research Highlights: AAN 2023
Building and Maintaining a Multidisciplinary Team for Lysosomal Disorders
Myasthenia Gravis and the Need for Targeted Therapies
wAIHA Treatment-Options – Current and in Development (Chapter 3)
wAIHA Complications (Chapter 2)
wAIHA Pathophysiology and Diagnosis (Chapter 1)
Warm Autoimmune Hemolytic Anemia (wAIHA) - Full Program
CME: Fabry Disease Research Highlights
Gene Therapy to Treat Duchenne Muscular Dystrophy – Preliminary Clinical Trial Results
Growth Hormone Deficiency Research Highlights