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 ...

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 ...

Reviewed by Anton Porsteinsson, MD, Director of the University of Rochester Alzheimer’s Disease Care, Research and Education Program (AD-CARE) in New York; and the first William B. and Sheila Konar ...

Endometriosis, a chronic inflammatory disease that affects approximately one in ten women of reproductive age—around 190 ...

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 ...

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 ...

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 ...

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 ...

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 ...