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 ...

A new study suggests that the long-standing Mendelian view of genetics has some blind spots.

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

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 ...

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 ...

Forbes contributors publish independent expert analyses and insights. Daryl Austin is a Utah-based reporter who covers health and wellness. April is Parkinson’s Awareness Month, and even though we ...

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 ...

Computational biologists from the National University of Singapore (NUS) have uncovered how RNA splicing – a crucial process for isoform expression and protein diversity - is regulated across ...