11q Deletion, Not ATM Mutation, Is Marker for Adverse Prognosis in CLL
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Advocates Seek Solutions After HHS Ends Newborn Screening Advisory PanelNewborn screening in the US currently identifies about 14,000 babies with serious conditions annually. -
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. -
Dr. Katherine Mathews Honored for 4-Decade Career Researching Muscular DystrophyKatherine Mathews, MD, leads the University of Iowa's Wellstone Muscular Dystrophy Specialized Research Center. -
Nursing Home Referral Leads to a Lifetime of Huntington Disease ActivismJimmy Pollard is a former special education teacher who at one point found himself caring for 61 people with Huntington disease.
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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 -
Why Falling is Not Just a Problem for the ElderlyWhen I was in the hospital receiving treatment for chronic inflammatory demyelinating polyneuropathy CIDP I was often classified as a “falls risk.”May 2, 2025
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Progress, Challenges, and Hope: A Q&A With the PBC Foundation’s CEOThe CEO has been a part of my life since I was first diagnosed with primary biliary cholangitis (PBC).April 30, 2025 -
World Orphan Drug Congress Plays Vital Role in Improving Lives of Rare Disease PatientsThe World Orphan Drug Conference connects patients with rare diseases, such as cold agglutinin disease (CAD), to opportunities and community.April 30, 2025
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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. -
IgG4-RD and AAV Share Similar Clinical and Laboratory FindingsResearchers investigated the apparent close relationship between IGG4-RD and AAV and whether they arise from shared pathophysiological pathways.
- 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
