All Episodes
Rare Disease Discussions — 192 episodes
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
Zero Relapses in Patients with NMOSD Given Ravulizumab
Hemophilia A Drug Given Priority Review Status
A Brief History of Newborn Screening
UT Southwestern Medical Center: a NORD Center of Excellence
Safety and Efficacy of PLN-74809 to Treat Idiopathic Pulmonary Fibrosis
New Report Estimates the Number of Rare Diseases is More Than 10,000
CME: Cushing’s Disease / Cushing’s Syndrome - Research Highlights
Positive Updated Results from MajesTEC-1 Study in Relapsed/Refractory Multiple Myeloma
CME: Pulmonary Arterial Hypertension (PAH) Research Highlights
Dr. Farber: The Impact of COVID-19 in the Diagnosis of Pulmonary Arterial Hypertension (PAH)
CME: The Immune System and Lysosomal Diseases
Growth Hormone Deficiency Research Highlights
PIK3CA-Related Overgrowth Syndrome (PROS)
Zero Relapses in Patients With NMOSD Given Ravulizumab
UT Southwestern Medical Center: a NORD Center of Excellence
Advances in Gene Therapy for Lysosomal Diseases
Advances in Gene Therapy for Lysosomal Diseases
Updates in Medical Management of Cushing’s Syndrome
Diagnosis and Comorbidities in Cushing’s Disease: New Consensus Summary Into Your Practice
Current and Emerging ERTs/SRTs
What is Dravet Syndrome?
What Is a Patient-Focused Drug Development (PFDD) Meeting?
Data From SHINE Study Shows Significant Breakthrough for Patients with Mantle Cell Lymphoma
What Is ENPP1 Deficiency?
PNH: Real-World Experience
Rare Diseases Cost Ten Times More Than Common Diseases
CME Webinar: Biomarkers in Lysosomal Storage Disorders
Hereditary Angioedema (HAE) Research Highlights: 2022 AAAAI Annual Meeting
An Interview With Dr. Raymond Wang About Mucopolysaccharidosis Type I (MPS I)
Positive Data from Regenxbio’s Gene Therapy Trials for MPS I and MPS II
What is Dystrophic Epidermolysis Bullosa?
The NORD Rare Disease Centers of Excellence
Data from Phase 3 Gene Therapy Trial in Hemophilia B Patients Very Encouraging
What Is Rett Syndrome?
Gene Therapy (RGX-111) to Treat Mucopolysaccharidosis Type I (MPS I)
Treatment Options for Myasthenia Gravis
Galactosemia Roundtable Discussion Overview
MPS II Research Highlights: WORLDSymposium 2022
Gaucher Disease Research Highlights: WORLDSymposium 2022
AADC Deficiency: Panel Discussion Overview
Paroxysmal Nocturnal Hemoglobinuria (PNH) Highlights from ASH 2021
Subasumstat + Rituximab Shown to Be Tolerable in Subsets of non-Hodgkin Lymphoma Patients
Dr Jerry Vockley Discusses Latest Phase 2 Data Assessing SYNB1618 To Treat Phenylketonuria (PKU)
Newborn Screening: Hemoglobinopathies and Newer Disorders on the RUSP
Newborn Screening: Metabolic Conditions
Newborn Screening: Talking to Parents
Newborn Screening: From RUSP to Reality
Pyruvate Kinase (PK) Deficiency Highlights from ASH 2021
Treatment Landscape for Relapsed and Refractory Multiple Myeloma
Teclistamab Monotherapy for Relapsed/Refractory Multiple Myeloma Patients
Lysosomal Storage Diseases: Central Symptoms and Comorbidities
Hereditary Angioedema (HAE) Highlights from ACAAI 2021 Annual Meeting
Positive Long-Term Data of Ibrutinib + Venetoclax as First-Line Treatment for Chronic Lymphocytic Leukemia (CLL)
Positive Safety and Efficacy Results in Rett Syndrome Study
Safety of the Bispecific Antibody, REGN5458, in Multiple Myeloma Patients
Sustained uMRD Demonstrated in Elderly CLL Patients Receiving Ibrutinib plus Venetoclax
Dr Anne Pariser Provides an Overview of NIH’s Office of Rare Diseases Research
New and Emerging Phenotypes in Lysosomal Storage Disorders
Retinoid Therapy for Congenital Ichthyosis Shows Promise
Overview of Congenital Ichthyosis
Milademetan Shows Promise as Treatment for Multiple Cancer Types
Overview of Juvenile Idiopathic Arthritis (JIA)
New Insights into Lysosomal Storage Diseases’ Pathophysiology is Changing Treatment
Overview of Sarcomas
Current Treatment Options for Bone and Soft Tissue Sarcomas
How the MMRF Is Advancing Multiple Myeloma Research
What is Krabbe Disease?
Gene Therapy Clinical Trial for Krabbe Disease is Recruiting Patients
TCGT: Overview, Symptoms, and the Need for a Multidisciplinary Approach
Acromegaly Highlights from ENDO 2021
Current and Emerging Treatments for Lysosomal Storage Diseases
Fabry Disease Research Highlights 2021
Prader-Willi Syndrome Overview
Investigational Drug Provides Improved Quality of Life for PNH Patients
What is Paroxysmal Nocturnal Hemoglobinuria?
Follicular Lymphoma and Marginal Zone Lymphoma
Phase 2 UNITY-NHL Study Regarding Umbralisib
FDA Approves Umbralisib for Marginal Zone Lymphoma, Follicular Lymphoma
Prader-Willi Syndrome: Overview and Potential Treatment
Rare Disease Clinical Trials: Study Designs and Common Concerns
Gaucher Disease Research Highlights
Eye on Neuromyelitis Optica Spectrum Disorder (NMOSD)
PAH Highlights from CHEST 2020
Fabry Disease Research Highlights
Gaucher Disease Research Highlights
Mucopolysaccharidoses (MPSs) Research Highlights
When to Suspect ATTR Amyloidosis
Diagnosing ATTR Amyloidosis
Spinal Muscular Atrophy and Genetic Counseling
Spinal Muscular Atrophy and Newborn Screening
Treating Spinal Muscular Atrophy
Diagnosing Spinal Muscular Atrophy
NETS Research Highlights
Rolling Submission for Cilta-cel to Treat Relapsed/Refractory Multiple Myeloma
Clinical Data Shows Promise for SCID Treatment
Gene Therapy Showing Promise in Treating XLRP
Narcolepsy Highlights from AAN 2020
NMOSD Highlights from AAN 2020
Newborn Screening and MPS I
Mucopolysaccharidosis I (MPS I) and Genetic Counseling
Treating Mucopolysaccharidosis I (MPS I)
Diagnosing Mucopolysaccharidosis I (MPS I)
Mucopolysaccharidosis I (MPS I) and Genetic Counseling
Tumor-induced Osteomalacia (TIO)
New Study to Treat Propionic Acidemia and Methylmalonic Acidemia
CheckRare: Diagnosing Gaucher Disease Before ERT