New research finds that retinal diseases thought to map one-to-one to genetic mutations are more complicated than that.

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 ...

Differences in socioeconomic status (SES) are known to be linked to differences in the risk of developing disease. While people with lower SES are more likely to develop complex diseases such as ...

Cystic fibrosis represents one of the most common inherited genetic disorders affecting people of European descent, touching the lives of approximately 30,000 individuals in the United States alone.

Environmental factors such as lifestyle and the medications you take influence the effects your genes have on your body — and can clarify how diseases develop. When you purchase through links on our ...

Scientists have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect. Scientists at the Icahn School of Medicine at Mount Sinai and ...

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 ...