Single-Center Analysis Finds Improved Annual Growth Velocity With Vosoritide
-
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.
-
Living With CIDP, Choose Your Friends CarefullyA few weeks before I was diagnosed with chronic inflammatory demyelinating polyneuropathy (CIDP), I was very vulnerable.May 22, 2025 -
The Long, Confusing Road to an NMO DiagnosisMy journey with Neuromyelitis Optica (NMOSD) started long before I was diagnosed.May 22, 2025
-
Setting the Standard for Rare Disease ConferencesThe PBC Summit brings so much hope and light to me as a patient with a rare disease.May 22, 2025 -
My Grandson’s Struggle With DMD: Rapid Decline, Daily Challenges, and Hope for TreatmentMy grandson William is facing Duchenne muscular dystrophy (DMD), a condition that comes with a set of expectations about how it will progress.May 22, 2025
-
Timing of Treatment Initiation Key to Improving Outcomes in CIDPStudies show that the initiation of treatment within a year of symptom onset in CIDP can significantly improve outcomes. -
Understanding Gaps in the Treatment of GPP FlaresSignificant gaps remain in our collective ability to treat generalized pustular psoriasis (GPP) flares in a timely and effective manner. -
Assessing the Impact of Intractable Pruritus on Patient Well-Being in PBCSevere pruritus can be an intolerable and debilitating symptom in PBC, adversely impacting quality of life. -
The Link Between Obesity and PAH OutcomesNew research shows that obese patients had a higher risk of comorbidities and poorer functional status. -
The Management Landscape of IgG4-RD TodayManaging IgG4-RD is primarily hampered by difficulties in diagnosing this rare disorder.
- 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
