Patisiran May Be Effective in ATTR-CM and ATTR-PN Care
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Emerging Treatments—Not Only Gene Therapy—Offer New Hope for Patients With DMDSeveral novel therapeutic approaches to treating DMD are in the pipeline. -
Pharma Companies Race to Develop New Therapies for Older Patients With SMAIntrathecal onasemnogene abeparvovec aims to address the genetic root cause of SMA by replacing the SMN1 gene in a single dose. -
MGFA Honors British Neurologist With First Lifetime Award for Groundbreaking MG ResearchAfter starting in clinical medicine at her parents' urging, Dr. Vincent switched to her field of interest: basic research. -
Orthopedic Care for Achondroplasia Rapidly Evolving as New Strategies EmergeOrthopedic management plays a central role in the care of patients with achondroplasia. -
Emerging Solutions Could Make TK2d Easier to Recognize and TreatTK2d has long existed in a therapeutic void, with patients having few, if any, disease-modifying treatment options.
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How a Telemedicine App Can Play a Critical Role in Managing CADDietitians can guide patients with dietary modifications that may help manage a rare condition, such as cold agglutinin disease (CAD).July 29, 2025 -
My First Bleed Away From Home: Lessons LearnedAs a person with hemophilia, I was terrified of having a bleed and not being near my go-to care team.July 29, 2025
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Meeting Pompe Disease Challenges one Step Forward at a TimeThere are times when I feel like I am in control and managing all the challenges thrown at me living with Pompe disease.July 29, 2025 -
Navigating and Identifying the Complexities of Pompe DiseaseNot just my usual body ache and pain caused by the symptoms of living with Pompe disease, but every breath I take feels like it is a real effort and struggle.July 29, 2025
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Rethinking Prophylactic Platelet Transfusions in NeonatesPlatelet transfusions are often administered to reduce bleeding risk in FNAIT, and there is new research on umbilical cord blood-derived platelet products. -
Deficiencies in the Diagnostic Process of Gaucher DiseaseCurrently, the diagnostic process of Gaucher disease often results in unnecessary delays and is thus prime for an overhaul. -
Understanding the Impact of GPP on Quality of Life OutcomesGeneralized pustular psoriasis (GPP) contributes to consistently negative outcomes across various quality of life parameters. -
A Holistic Approach to Improving Quality of Life Among Patients With SCDTo make a real difference in the lives of patients with SCD, there should be a focus on optimizing care across a vast spectrum of concerns. -
Improving the Diagnostic Rate of IgG4-RDWith the characterization of IgG4-RD, this disease can finally be managed in a comprehensive manner—provided that it is correctly diagnosed, of course.
- 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
- Limb Girdle Muscular Dystrophy
- 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
