Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have used a ...

Researchers have been trying to solve the mystery of a rare genetic disorder called spinocerebellar ataxia 4 (SCA4) for many years. The disease causes impairments in movement and balance, and these ...

Sometimes, a small error in the sequence of DNA can lead to a very serious disease. Scientists have identified many mutations that arise in a single gene to cause an ...

Computational biologists have uncovered how RNA splicing -- a crucial process for isoform expression and protein diversity -- is regulated across different cell types in the peripheral blood. This ...

Researchers have released TripletDGC, a publicly available resource that links nearly 10,000 disease-associated genes to the specific cell types they most strongly affect, filling a critical gap in ...

Today's biomedical researchers are relentlessly searching for genes that drive disease, with the goal of creating therapies that target those genes to restore health. When a single gene is the culprit ...

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 ...

Although schwannomatosis is a genetic condition, the inheritance patterns for this disorder are complex and much less clear than for both NF1 and NF2. Some cases of schwannomatosis are familial, with ...

A single exposure to a toxic fungicide during pregnancy can increase the risk of disease for 20 subsequent generations—with inherited health problems worsening many generations after exposure. Those ...