Romiplostim Is Possible Alternative to Multiple Platelet Transfusions in NICU
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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.
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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 -
The Hope and Stress of Waiting for Genetic Testing ResultsI live with generalized myasthenia gravis (gMG) and have been on treatments for 6 years.June 3, 2025
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The Resilient Spirit of Living With Pompe DiseaseAs I sit here, reflecting on my journey with Pompe disease, I am reminded of the countless challenges that come with living with this rare genetic disorder.June 3, 2025 -
Friedreich Ataxia Has My HeartMy Friedreich ataxia (FA) diagnosis slowed me down a little, but I was still pretty heart-healthy through the years.June 3, 2025
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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
