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 ...

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 ...

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 ...

Most people with ALS don’t have a family history of it. Still, some cases of ALS are linked to inheriting specific gene mutations. Even nonfamilial cases can be linked to sporadic gene mutations that ...

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 ...

Large genomic rearrangements in germline BRCA1/2 pathogenic variant architecture across tumor types. Uncovering genetic susceptibility to second malignant neoplasms in children and young adults: ...

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 ...

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 ...

Below are diseases that are often screened for in Jewish couples who are planning to have children because of an elevated risk of carrying a recessive mutation. Researchers so far have identified many ...

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 ...

RTP-based Opus Genetics has announced several advances in its gene therapy programs designed to restore vision and help ...

Adrenoleukodystrophy is a rare condition associated with abnormalities in myelin, the white matter that protects nerve fibers in the spinal cord and brain. It occurs due to a mutation on the X ...