Sickle cell disease (SCD) is an inherited blood disorder marked by defective hemoglobin. It causes red blood cells (RBCs) to deform into a sickle shape, which results in premature death of the RBCs, ...

The term muscular dystrophy encompasses a group of genetic diseases characterized by progressive muscle weakness and wasting. There are different types of muscular dystrophy depending on genetic ...

Modern prophylactic therapies for hereditary angioedema with C1 inhibitor deficiency (HAE-C1INH) have become increasingly prevalent in Hungary, paralleling global trends, and are proving both ...

Follow Rare Disease Advisor's Sickle Cell Disease Junction for the latest news, resources, insights, and patient perspectives on the disease.

Clinicians who treat cystic fibrosis can stay up to date on the latest news and perspections about the disease here on RDA's CF Junction.

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, chronic, life-threatening disorder characterized by the premature breakdown of erythrocytes and the release of hemoglobin into urine for excretion.

Diffuse large B-cell lymphoma (DLBCL) is a type of cancer that originates in and affects the lymphatic system. 1 It is the most common type of non-Hodgkin lymphoma (NHL), accounting for approximately ...

Weight loss may be intensified by treatment-related side effects of diffuse large B-cell lymphoma (DLBCL), such as loss of appetite, diarrhea, 1 vomiting, 1,2 nausea, and changes in taste and smell. 2 ...

Researchers from Brazil developed a new clinical score to estimate the probability of neuromyelitis optica spectrum disorder (NMOSD) in patients presenting with optic neuritis. The easily accessible ...

As of November 2024, approximately 137 clinical trials for spinal muscular atrophy (SMA) are ongoing or pending: 8 trials that are not yet recruiting, 74 trials that are currently recruiting, 26 ...

Thymidine kinase 2 deficiency (TK2d) testing consists of several components used to confirm the diagnosis 1-3: clinical evaluation, molecular genetic testing of the TK2 gene, muscle biopsy, laboratory ...

BRSK2 has emerged as a pivotal pathogenic factor in idiopathic pulmonary fibrosis (IPF), demonstrating strong associations with disease progression, respiratory insufficiency, and transplant-free ...