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 ...

Von Willebrand disease (VWD) is a bleeding disorder in which the blood does not clot as it should. Usually, people have VWD due to their genes, which may come from a male or female parent. Blood ...

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 ...

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 ...

This Rare Disease Day, observed on Feb. 28 worldwide, the American Kidney Fund is committed to improving the understanding of rare kidney diseases by providing educational resources.