Rett syndrome is a rare developmental disorder, most often due to a mutation in the MECP2 gene on the X chromosome, but it’s not usually inherited. Advances in genetics have launched a new era in ...

When standard genetic tests came back negative for several children in the UAE with unexplained developmental delays and muscle weakness, doctors could easily have stopped looking. Instead, further ...

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 ...

Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using ...

Despite modern high-throughput sequencing, the genetic cause of most rare movement disorders remains unclear. A research team ...

This is the second volume of our previous collection, linked here. Mental health disorders and physical diseases often co-occur, and growing evidence ...

Analysis of hundreds of environmental exposures and health outcomes quantifies influence of nongenetic factors ...

Are you mostly a product of the genes you inherit or your experiences in life? This question intrigues many people, including addiction researchers. In this post, I provide an overview of key research ...

Bipolar disorder is a complex psychiatric disorder, characterized by fluctuations between episodes of (hypo)mania and depression. It is estimated to affect around 40 to 50 million people worldwide.

Scientists say that 55 percent of differences in human lifespan are due to genetic makeup, much more than previously believed ...