Please provide your email address to receive an email when new articles are posted on . Athletes with positive test for genetic heart disease but no or negligible phenotype had no cases of death or ...

Researchers have uncovered novel insights into how brain function disruptions related to cerebrovascular disease (CeVD) interact with Alzheimer's disease (AD) pathology to impact neurodegeneration and ...

People with polycystic ovary syndrome (PCOS) are at increased risk for metabolic and cardiovascular disease, with potential divergence of risk by PCOS phenotype. Hyperandrogenism appears to raise the ...

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 ...

Of the more than 3,000 variants that have been identified in the NF1 gene, only a handful of specific variants can be correlated to certain NF1 symptoms. In this post, I’ll discuss the major known ...

Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...