All episodes
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