Chronic kidney disease (CKD) is a public health challenge that affects more than 800 million people worldwide. 1 CKD can be caused by a variety of disease processes. Many causes are difficult to ...

Phasing genetic variants is essential in determining those that are potentially disease-causing. In autosomal recessive inherited retinal diseases (IRDs), reclassification of variants of uncertain ...

Panelists discuss how spinal muscular atrophy is an autosomal recessive genetic disease affecting motor neurons with 3 currently approved disease-modifying therapies that restore SMN protein ...

Parkinson’s disease (PD) is a progressive neurodegenerative disease whose main symptoms are motor dysfunctions, such as tremor, rigidity, bradykinesia, and postural instability. Selective degeneration ...

Responsible for one form of the disease To find out whether pathogenic variants in FOXI3 and their autosomal recessive inheritance are systematically involved, the researchers also analyzed the ...

Researchers assessed the role of recessive genetic variants in developmental disorders, suggesting reanalysis of genetic data could improve understanding and diagnosis of conditions for millions of ...

Data from this Australian study showed a higher prevalence of intracranial aneurysms (ICAs) in patients with ADPKD compared with the general population. Many patients in the study had no known risk ...

Researchers have conducted what they say is the largest and most diverse study to date on how recessive genetic changes contribute to developmental disorders. The team, headed by researchers at the ...