Recognizing Histamine Burden Refines Treatment of Mast Cell-Driven Disease
-
Pioneering Case Illustrates the Promise of Personalized Gene Editing for Rare DiseasesKJ Muldoon has been achieving developmental milestones, but his long-term prognosis is unknown.
-
Vasculitis Awareness Month Highlights Advances in Treatment and Ongoing ObstaclesThe nonprofit Vasculitis Foundation advocates for patients with 1 or more of the 20-plus subtypes of the disease.
-
A Kansas Man’s Lifelong Struggle With Limb-Girdle Muscular DystrophyDutch filmmaker Daimon Xanthopoulos recently produced a 25-minute documentary about Donavon Decker’s life and relationships.
-
Regional Pockets of HAE Persist Due to Founder Effect, Affecting Generations of FamiliesHAE affects approximately 1 in 50,000 people globally, but is far more prevalent in a few select geographic regions.
-
New Prader-Willi Therapy Gives Parents Rare Hope for Managing HyperphagiaDiazoxide choline is believed to activate the ATP-sensitive potassium channel, which may decrease secretion of peptides that regulate appetite.
-
Being a Living, Breathing Neurological ExamWhen I was first admitted to the hospital with transverse myelitis, an initial sign of NMO in my case, I became a bit of a curiosity.June 6, 2025
-
Vaping and AATD: A Risk AssessmentIndividuals with the genetic condition alpha-1 antitrypsin deficiency (AATD) are prone to lung damage, even without the risk of vaping.June 5, 2025
-
Breaking Down an AATD Clinical Trial on PiSZ PatientsIndividuals with AATD and the PiSZ genotype need to be part of clinical trials that are researching specific aspects of their genotype.June 5, 2025
-
Advice for Those Living With Hemophilia: Keep MovingPeople with hemophilia want to be able to enjoy life for what it is without having to worry, but that’s not always the reality for us.June 3, 2025
-
Enhancing Palliative Care in HCCPalliative care should be integrated into the early treatment and management of patients with hepatocellular carcinoma (HCC).
-
AAV Pathophysiology: Rare Inborn Errors of ImmunityAlthough there are early data, more research is needed regarding why ANCA develop in an inborn error of immunity and whether they play a role in AAV.
-
The Importance of International Consensus Guidelines in the Management of AchondroplasiaInternational consensus guidelines are highly valuable in ensuring that the care of patients with achondroplasia is optimized.
-
Are Mobile Apps Ripe for Usage in Telehealth Monitoring of CIDP?Clinical researchers are increasingly turning to mobile apps to monitor health in patients with chronic diseases.
-
Efforts to Improve Quality of Life in PNH: Are We Moving Fast Enough?Overall, patients with PNH struggle with a notable reduction in quality of life, revealing a significant clinical unmet need.

- Achondroplasia
- Acute Lymphoblastic Leukemia
- Alagille Syndrome
- Alpha-1 Antitrypsin Deficiency
- ANCA-Associated Vasculitis
- Cholangiocarcinoma
- Chronic Inflammatory Demyelinating Polyneuropathy
- Chronic Lymphocytic Leukemia
- Cold Agglutinin Disease
- Cystic Fibrosis
- Diffuse Large B-Cell Lymphoma
- Dravet Syndrome
- Duchenne Muscular Dystrophy
- Fabry Disease
- Fetal and Neonatal Alloimmune Thrombocytopenia
- Friedreich Ataxia
- Gastrointestinal Stromal Tumor
- Gaucher Disease
- Generalized Pustular Psoriasis
- Hemolytic Disease of the Fetus and Newborn
- Hemophilia
- Hepatocellular Carcinoma
- Hereditary Angioedema
- Huntington Disease
- Idiopathic Pulmonary Fibrosis
- IgG4-Related Disease
- Immune Thrombocytopenia
- Lennox-Gastaut Syndrome
- Long Chain Fatty Acid Oxidation Disorder
- Lysosomal Acid Lipase Deficiency
- Medullary Thyroid Carcinoma
- Multiple Sclerosis
- Myasthenia Gravis
- Myelodysplastic Syndromes
- Myelofibrosis
- Neuromyelitis Optica Spectrum Disorder
- Paroxysmal Nocturnal Hemoglobinuria
- Pompe Disease
- Prader-Willi Syndrome
- Primary Biliary Cholangitis
- Primary Central Nervous System Lymphoma
- Pulmonary Arterial Hypertension
- Sickle Cell Disease
- Spinal Muscular Atrophy
- Systemic Mastocytosis
- Systemic Sclerosis
- Thymidine Kinase 2 Deficiency
- Transthyretin Amyloid Polyneuropathy
- Transthyretin-Mediated Amyloid Cardiomyopathy
- Wilson Disease