Glucose Metabolism Could Be a New Therapeutic Target in Pompe Disease
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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. -
SMA Continues to Challenge Patients Who Couldn’t Be Treated Early in InfancyLyza Weisman spoke at the recent MDA Clinical & Scientific Conference of no longer being able to do the 'little things' that make a life.
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Living With CAD and Making Your Voice HeardIndividuals with cold agglutinin disease (CAD) and other rare diseases have a chance to share comments about their experience and challenges.July 14, 2025 -
The Power of Shared Experiences When Living With HemophiliaThe hemophilia community is strong, simply due to the fact that we all have one thing in common that bonds us together.July 14, 2025
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What I Pack in My ITP Emergency Bag for a Hospital StayHospital stays are almost inevitable when you have immune thrombocytopenia (ITP). There’s nothing worse than hearing those words, “We’re admitting you,” and having nothing with you for your stay. In the past, I would have had to send my late husband to go back home and try to pack a bag for me. That can…July 11, 2025 -
The Pitfalls of Being Sedentary With AATDLung patients with alpha-1 antitrypsin deficiency (AATD) often have trouble finding the balance between rest and exercise that feels healthy.July 11, 2025
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How Healthcare Professionals Regard Genetic Testing in HAEHealthcare professionals generally agree that genetic testing can be useful in the HAE diagnostic process, but many urge caution in interpreting results. -
Emerging Priorities in Diagnosing and Managing Gaucher DiseaseCurrent evidence suggests there are 8 key areas of emerging importance in diagnosing and managing Gaucher disease. -
Biomarkers Play Key Role in Diagnosing NMOSD and Tracking Disability ProgressionBiomarkers are increasingly recognized for their use in diagnosing and tracking disability progression in NMOSD. -
Assessing PBC Prevalence and the State of Care TodayThe prevalence of PBC is expected to rise in the United States and the wider world, requiring concrete, proactive action. -
Divergence of Care Strategies Between Younger and Older Patients With HCCManagement strategies differ significantly between younger and older patients with hepatocellular carcinoma (HCC).
- 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
