Dystonia encompasses a spectrum of movement disorders characterised by sustained or intermittent muscle contractions that produce twisting and repetitive movements or abnormal postures. Genetic models ...

Hermansky–Pudlak syndrome (HPS) is a genetically heterogeneous autosomal recessive disorder characterised by oculocutaneous albinism, bleeding diathesis and, in certain subtypes, immunodeficiency, ...

Panelists discuss how the pathophysiology of pulmonary arterial hypertension involves complex mechanisms across multiple genetic and treatment pathways, with over 20 identified genes and four major ...

HBB-β S: An A greater than T point mutation results in the substitution of glutamate for valine in the sixth amino acid position (or seventh, if the… Development of SCD depends on whether the ...

Panelists discuss how the pathophysiology of acute myeloid leukemia has evolved from a single phenotype understanding to recognizing diverse genetic events that lead to transformation at the ...

A landmark study uncovers how a specific lung gene, FOXP4, raises the risk of persistent symptoms after COVID-19, providing fresh insight into why some people are more susceptible to long COVID than ...