Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have used a genetic sequencing technique called whole exome sequencing to discover a new ...

Researchers identified biallelic variants in RNU2-2 as the cause of a recessive neurodevelopmental disorder marked by ...

When a child’s symptoms stump one specialist after another for years on end, families describe the experience as grueling and ...

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 ...

A massive global genetics study is reshaping how we understand mental illness—and why diagnoses so often pile up. By analyzing genetic data from more than six million people, researchers uncovered ...

The genome has thousands of genes that code for proteins, which help carry out many of the cell's important functions. But ...

Agreement includes up to $155 million in non-dilutive funding with an upfront payment of $35 million and a $5 million equity investment -- ...

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 ...

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 ...

DNA found in a prehistoric grave in Italy reveals a rare genetic disorder and is transforming our understanding of ancient ...