Somatic and Germline Data Enhance CLL Risk Prediction
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GBS/CIDP Foundation Helps Promote Awareness of Rare Debilitating NeuropathyThe GBS/CIDP Foundation International aims to provide support, with an emphasis on patients and caregivers meeting each other. -
Advocates Seek Solutions After HHS Ends Newborn Screening Advisory PanelNewborn screening in the US currently identifies about 14,000 babies with serious conditions annually. -
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. -
North Carolina Teen With Charcot-Marie-Tooth Disease Is MDA’s 2025 National AmbassadorLily Sander has an especially rare type of Charcot-Marie-Tooth (CMT) disease—a mutation that occurs in just 1% of those with CMT. -
Balancing Progress and Privacy in Newborn Screening PracticesNewborn screening remains an unevenly accessible resource.
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Summit Advances Key Objectives for the PBC CommunityI had the opportunity to explore the challenges and potential remedies for those living with PBC.May 6, 2025 -
FDA to Replace Animal Testing in Some MS Clinical Trials With AIThe US Food and Drug Administration (FDA) is seeking to replace animal testing in clinical trials, including multiple sclerosis (MS).May 5, 2025
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In New Orleans, a Rare Opportunity to Cast Light on Dreaded ATTR-CMCardiac transthyretin amyloidosis (ATTR-CM) is a challenging condition, and at this stage, it’s a matter of life and death.May 5, 2025 -
Learning to Communicate About AATD Takes PracticeCommunicating a simple understanding of alpha-1 antitrypsin deficiency (AATD) to others is not easy and may take lifelong practice.May 2, 2025
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Pivoting Toward Patient-Reported Outcomes in Systemic MastocytosisIncreasingly, modern medicine is making room for patients to better express themselves through self-reported outcomes, especially for rare diseases like SM. -
Rituximab May Play a Key Role in Refractory CIDPStudies suggest that rituximab may have a significant role to play in patients who have been diagnosed with refractory CIDP. -
Evaluating Challenges in the Management of GPP TodaySignificant gaps remain in the clinical management of generalized pustular psoriasis (GPP), including guidelines on long-term chronic care. -
AAV and IgG4-RD Share Similar Clinical and Laboratory FindingsResearchers investigated the apparent close relationship between IGG4-RD and AAV and whether they arise from shared pathophysiological pathways. -
Fibrates May Be a Second-Line Therapy Option in PBC-Related Intractable Pruritus in PregnancyFibrates was used as second-line therapy in a pregnant patient with PBC-associated pruritus who responded poorly to UDCA, a study found.
- 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
