CureFest 2026

Positive Results with Cemdisiran, an RNAi Mediated Therapy, in Patients With Myasthenia Gravis

Accelerated Approval Granted to Gene Therapy for Rare Genetic Hearing Loss

Prader-Willi Syndrome: Clinical Features and Early Identification

An Overview of Systemic Mastocytosis

Daybue (Trofinetide) Stix: New Formulation of Treatment for Rett Syndrome

Biomarkers and Beyond: Integrating AI in Rare Disease Management (Full Program)

Chapter 1: Seeing Beyond the Obvious in Patient Care

Chapter 2: Challenging Diagnostic Bias

Chapter 3: Recognizing What’s Easily Missed

Effect of Uplizna (Inebilizumab) on Ocular Manifestations in Myasthenia Gravis

Open-Label Extension Data of Repinatrabit for Patients With Phenylketonuria

Arms Wide Open Childhood Cancer Foundation and CureFest

Rational Design Meets Real-World Relevance: Pegunigalsidase Alfa in the Treatment of Fabry Disease

Strategic Approaches to Designing PEGylated Enzyme Replacement Therapies

ADA Responses to Pegunialsidase Alfa: Formation and Clinical Relevance

Clinical Trial Outcomes and Real-World Evidence on Tolerability of Pegunialsidase Alfa

FDA Approves Sparsentan to Treat Focal Segmental Glomerulosclerosis

Breakthrough Therapy Designation of Venglustat for the Treatment of Gaucher Disease Type 3

Phase 3 Results of Brepocitinib for the Treatment of Dermatomyositis

Tepezza (Teprotumumab) for the Treatment of Thyroid Eye Disease

FDA’s Plausible Mechanism Framework and its Effect on Rare Disease Therapy Development

Beyond the Rash: Recognizing and Managing Systemic Mastocytosis in Clinical Practice

Investigational Dual AAV Gene Therapy for Patients With Stargardt Disease

Nipocalimab Granted Fast Track Designation in Systemic Lupus Erythematosus

30 Years of the Fabry Support and Information Group

MESA Extension Study of Sevasemten in Patients With Becker Muscular Dystrophy

Accelerated Approval of Yuviwel (Navepegritide) for Patients with Achondroplasia

How The FDA’s Plausible Mechanism Framework is Accelerating Approval for Osteosarcoma Immunotherapy

Clinical Features and Early Identification of Prader-Willi Syndrome

Results of the Phase 2 PIONEER Study in Patients With Systemic Mastocytosis

Early Screening and Treatment Effects on Motor Function in SMA

CureSHANK: Update on Clinical Research in Phelan-McDermid Syndrome

The Plasminogen Deficiency Foundation

Testing Within Families

Safety Concerns

Current Management

Diagnostic Challenges

Role of Genetic Testing

Red Flag Symptoms

PLGD-1 Overview

Type 1 Plasminogen Deficiency Overview

New Clinical Trial Testing On-Demand Use of Deucrictibant in Patients With Hereditary Angioedema

First Patient Dosed in FALCON Clinical Trial Evaluating SGT-212 Gene Therapy for Friedreich’s Ataxia

PRIZM Clinical Trial of Zagociguat in Patients With MELAS

Chiesi Rare Disease Highlights at WORLDSymposia 2026

Real-World Perspective on Daily Challenges of Living With MPS II

Gene Therapy in Patients With MPS IIIA

Autologous Hematopoietic Stem Cell Gene Therapy With Ex-Vivo LV Platform in MPS II

ASMD Perspective Index: Diagnosing Niemann-Pick Disease

Global Efforts Towards Developing Treatment Options for Patients With Rare LSDs

Importance of Newborn Screening for Krabbe Disease

Challenges and Unmet Needs of Female Patients With Fabry Disease

Healthcare Resource Use for Patients With MPS III

Two-year Follow Up of FLT201 Gene Therapy in Adults with Gaucher Disease Type 1

Survey of Clinical Guidelines for MPS II

From Seizures to Sequencing: How Genetic Testing Is Changing Epilepsy Care

Chapter 1: Unexplained Epilepsy Overview

Chapter 2: Genetics in Epilepsy

Chapter 3: Diagnostic Pathways in Unexplained Epilepsy