SerpinPC Restored Hemostasis in Mouse Model of Hemophilia A
-
Rare Disease Researchers Warn NIH Budget Cuts Could Threaten Progress and Endanger LivesWith a $48 billion annual budget, the US National Institutes of Health is the world’s largest public funder of biomedical research. -
Clinicians Treating HAE Have Many Options, With More on the WayFour long-term prophylaxis and 4 on-demand therapies for hereditary angioedema are now on the market. -
National Amyloidosis Awareness Month: Expert Says Future of Treatment Is BrightAmyloidosis, which has several types, is diagnosed in at least 4000 Americans per year. -
More PAH Therapies Than Ever Before, Yet Time to Diagnosis Hasn’t ImprovedThe number of treatments for PAH continues to rise, but it still takes an an average of 3 years from symptom onset to diagnosis. -
Colorado-Based ‘Can Do MS’ Helps People With Multiple Sclerosis Live Healthier LivesCan Do MS provides free programs on topics such as nutrition, exercise, MS symptoms, relationships, and employment.
-
The Invisible Burden and Mental Strain of Living With Pompe DiseaseReflecting on my journey with Pompe disease, I'm reminded of the countless times I've been told that I look fine.April 3, 2025 -
A Patient With DMD Weighs On-Campus Versus Online College EnrollmentSince I am disabled with limb-girdle muscular dystrophy (LGMD), I was persuaded to join a transition program to prepare me for life after high school.April 3, 2025
-
Spring With CAD Brings Unique ChallengesIt's important for people with cold agglutinin disease (CAD) to protect themselves from various types of cold when seasons change.April 2, 2025 -
Spare Me the Toxic PositivityWhen you have a rare disease, like CIDP, you spend a lot of time telling people bad news.April 2, 2025
-
Do Physician, Patient Perspectives Diverge on Overall Health in AAV?Researchers explore the potential divergences in physician and patient perspectives regarding overall health in AAV. -
How Systemic Mastocytosis Affects Patient Health and Well-BeingStudies indicate that the disease burden of SM is substantial, adversely impacting physical and mental function, alongside employment. -
Improving the Understanding of GPP Epidemiology and Clinical ManifestationsEfforts are underway to better characterize the epidemiology and clinical manifestations of generalized pustular psoriasis (GPP). -
Prioritizing Patient Voices, Experiences in Chronic, Rare DiseasesBy giving our patients a voice, we position ourselves to hear firsthand accounts of the personal impact of chronic, incurable diseases. -
Current, Emerging Biomarkers and Treatments Identified for ATTR-PN and ATTR-CMThis article discusses current and emerging biomarkers and therapeutic strategies for transthyretin amyloid polyneuropathy (ATTR-PN).
- 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
- Fetal and Neonatal Alloimmune Thrombocytopenia
- Friedreich Ataxia
- Gastrointestinal Stromal Tumor
- 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
