Nucleic Acid-Based Therapies, PCSK9 Inhibitors Shown to Improve Lp(a) Levels
-
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.
-
My Mission: Spreading Awareness About Hemophilia Whenever, Wherever NeededGrowing up as a patient with hemophilia, I learned quickly that there aren’t too many people who know what my disease is—or have even heard of it.June 10, 2025
-
New Discoveries in Myasthenia Gravis Identified With Cryo-EM ImagingI have been living with myasthenia gravis for more than 10 years, diagnosed for almost 6 years.June 10, 2025
-
You Have What Disease? Explaining PompeEventually, I will run into a doctor who has never heard of Pompe and wants all the information about it from me.June 10, 2025
-
Conquering the Impossible While Living With a Rare DiseaseHaving overcome so much when I was younger, I was prepared when I was diagnosed with Pompe disease.June 10, 2025
-
The Role of Inflammation as a Key Driver in FNAITA recent study indicated that placental inflammation may be a key disease modulator in fetal and neonatal alloimmune thrombocytopenia.
-
When Is Genetic Testing Appropriate to Investigate a Diagnosis of HAE in Children?A case study demonstrates how genetic testing can be useful in children with a positive family history of hereditary angioedema.
-
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.

- 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