Newsletter
Newsletter

Featured

Biomarkers and Beyond: Integrating AI in Rare Disease Management

Stacey Kallish, MD, Clinical Geneticist at Penn Medicine in Philadelphia, is helping to lead a new wave of innovation at the intersection of artificial intelligence (AI) and rare disease care. 4 days ago
Arms Wide Open Childhood Cancer Foundation

Arms Wide Open Childhood Cancer Foundation and CureFest

Dena Sherwood, mother to a neuroblastoma survivor and Founder of Arms Wide Open Childhood Cancer Foundation, discusses her organization and the CureFest event. 5 days ago
Pegunigalsidase Alfa in the Treatment of Fabry Disease

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

The treatment landscape for Fabry disease, a rare, progressive lysosomal disorder characterized by α-galactosidase A deficiency that impacts multipe sytems in the body, is evolving. In this expert-led discussion, faculty explored how rational drug design is translating into meaningful clinical impact, with a focus on pegunigalsidase alfa and its emerging role in patient care. 5 days ago
Recognizing and Managing Systemic Mastocytosis

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

Systemic mastocytosis is a rare disease in which excess mast cells are produced and activated, resulting in chronic, severe, and heterogenous symptoms. CheckRare spoke with Patrick C. Foy, MD, a Clinical Hematologist practicing at Froedtert Hospital, Milwaukee, and Associate Professor, Medical College of Wisconsin, about the diagnostic challenges of systemic mastocytosis and optimizing patient care. 2 weeks ago
Narcolepsy

Narcolepsy: Recognizing the Signals, Reducing Diagnostic Delay, and Improving Patient Outcomes

Narcolepsy is a chronic disorder characterized by excessive daytime sleepiness (EDS) that can be associated with significant sleep disturbance and functional impairment, resulting in increased risk of disability, negative quality of life, and impaired productivity. 3 weeks ago
Jeff's Story With Fabry Disease

Jeff’s Journey With Fabry Disease

Jeff, a retired sergeant with his county sheriff’s office, was diagnosed with classic Fabry disease in 2003. Although he was 33 years old at diagnosis, his symptoms began at a much younger age. Read about Jeff’s journey to diagnosis, his experience living with Fabry disease, and his treatment with Elfabrio.  3 weeks ago
Clinical Features and Early Identification of Prader-Willi Syndrome

Clinical Features and Early Identification of Prader-Willi Syndrome

Merlin G. Butler, MD, Medical Geneticist and Professor, Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, and one of the pioneers in Prader–Willi syndrome research, discusses the clinical features of this very rare disease and the critical importance of early identification. 4 weeks ago
PIONEER Study in Patients With Systemic Mastocytosis

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

Cem Akin, MD, PhD, Professor, Allergy and Immunology at the University of Michigan, discusses systemic mastocytosis, and the results of the phase 2 PIONEER study, which tested the tyrosine-kinase inhibitor avapritinib (Ayvakit) against placebo in symptomatic patients. 4 weeks ago

SMA in Focus: Practical Insights from MDA 2026

Key data updates, therapeutic strategies, and evolving standards of care in spinal muscular atrophy. 1 month ago
Prader-Willi Syndrome

Prader-Willi Syndrome: Underlying Causes, Natural History, and Management

Prader–Willi syndrome is a complex genetic condition that is characterized by hyperphagia with accompanying endocrine, cognitive, sensory deficits. 1 month ago

Prader-Willi Syndrome: A Caregiver’s Perspective

Kelly Guillo, Board Member of the Prader-Willi Syndrome Association in Georgia, discusses Prader-Willi syndrome (PWS) from the perspective of a caregiver. 2 months ago
Plasminogen Deficiency

Plasminogen Deficiency: Fibrin Accumulation and Its Effects on Patients

2 months ago
Epilepsy Genetic Testing

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

Sophia Ceulemans, offers an overview of the rapidly advancing field of genetic testing for this unexplained epilepsy. 2 months ago
Neuroblastoma

Neuroblastoma

Neuroblastoma is a rare childhood cancer, but it is the most common extracranial solid tumor in children. 3 months ago

2026 Orphan Drugs: PDUFA Dates and FDA Approvals

Almost half of all novel medications approved by the U.S. Food and Drug Administration (FDA) are orphan drugs. Below is the list of important regulatory dates for all orphan drugs for 2026. 4 months ago

Current Status of Gene Therapies in Rare Neuromuscular Disorders

Drs. Beggs and Parsons discuss the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. 4 months ago

Current Status of Gene Therapy in Lysosomal Storage Disorders

Drs. Longo and Roberts discussed the current status of gene therapies in lysosomal storage disorders in this eight-part podcast series. 4 months ago

Catching the Clues, Changing the Course of Lysosomal Storage Disorders

The purpose of this symposium is to examine the patient journey across the lysosomal storage disorder (LSD) continuum—highlighting unmet needs in diagnosis, timely treatment initiation, and long-term management. 4 months ago