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Overview of Arginine Vasopressin Deficiency

Overview of Arginine Vasopressin Deficiency

Christopher Romero, MD, a pediatric endocrinologist at Mount Sinai Medical Center, New York City, and Associate Professor of Pediatrics at the Icahn School of Medicine at Mount Sinai, gives an overview arginine vasopressin deficiency and its recent name change to better reflect disease etiology. 4 hours ago
Growth Hormone Deficiency

Protected: Growth Hormone Deficiency: Causes, Early Detection, and Treatment

There is no excerpt because this is a protected post. 5 hours ago
CAH Awareness Month

June Is CAH Awareness Month

June is CAH Awareness Month, a time dedicated to increasing understanding of congenital adrenal hyperplasia (CAH). 2 days ago
Itvisma Gene Therapy for Spinal Muscular Atrophy

Itvisma Gene Therapy for Patients With Spinal Muscular Atrophy

John Day, PhD, MD, Director of Neuromuscular Medicine at Stanford University, discusses the development of Itvisma gene therapy for patients with spinal muscular atrophy (SMA). 6 days ago
Key Features of PLGD-1

Key Features of PLGD-1

Angela Zhu, MD, Ophthalmologist and Clinical Assistant Professor, Pediatric & Adult Cornea/Cataract/External Diseases, at Bascom Palmer Eye Institute in Miami, describes some of the key features of plasminogen deficiency and why ophthalmologists are often the healthcare providers who begin the process toward diagnosis. 2 weeks ago
Narcolepsy Breakthroughs and Emerging Therapies

Narcolepsy Breakthroughs and Emerging Therapies

Emmanuel Mignot, MD, PhD, is one of the pioneers in the study of narcolepsy and served a vital role in discerning the genetic cause of this rare and underdiagnosed disorder. Dr. Mignot, Professor of Sleep Medicine in the Department of Psychiatry and Behavioral Sciences, Stanford University, recently shared his thoughts on his work with CheckRare. 3 weeks ago
Diagnosis and Management of Plasminogen Deficiency

Diagnosis and Management of Plasminogen Deficiency

Amol Sura, MD, discusses the diagnosis and management of plasminogen deficiency, a rare condition that manifests in mucous membranes. 3 weeks ago
Overview of Systemic Mastocytosis

An Overview of Systemic Mastocytosis

Dareen D. Siri, MD, FAAAAI, FACAAI is a board-certified allergist and immunologist practicing at Midwest Allergy Sinus Asthma, based in central Illinois. She talked with CheckRare about a unique, rare disorder called systemic mastocytosis.  1 month ago
Daybue (Trofinetide) Stix

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

Arthur Beisang, MD, Department of Pediatrics at Gillette Children's Specialty Healthcare in Saint Paul, Minnesota, discusses Daybue (trofinetide) Stix, a new formulation of the treatment for Rett syndrome. 1 month 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. 1 month ago

Biomarkers and Beyond: Integrating AI in Rare Disease Management

Staci Kallish, DO, 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. 2 months 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. 2 months 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. 2 months 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 months 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. 2 months 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.  2 months 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. 2 months ago

SMA in Focus: Practical Insights from MDA 2026

Key data updates, therapeutic strategies, and evolving standards of care in spinal muscular atrophy. 2 months 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. 3 months 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. 3 months ago
Plasminogen Deficiency

Plasminogen Deficiency: Fibrin Accumulation and Its Effects on Patients

3 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. 3 months ago
Neuroblastoma

Neuroblastoma

Neuroblastoma is a rare childhood cancer, but it is the most common extracranial solid tumor in children. 4 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. 5 months ago