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 ...

Over a century after Mendel established the foundations of inheritance, genomics has revealed that most human traits and common diseases arise from the ...

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 different ...

Researchers at the University of Pittsburgh and KU Leuven have discovered a suite of genes that influence head shape in humans. These findings, published this week in Nature Communications, help ...

Euan Ashley's lab explores the intricate interactions of gene variants. Tiny "typos," or genetic mutations, can sneak into segments of DNA. Many of these are harmless, but some can cause health ...

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 ...

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.

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 ...

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 ...