CHARGE syndrome is a complex congenital disorder that presents with a spectrum of multisystem anomalies, including ocular coloboma, choanal atresia, congenital heart defects, and ear malformations, as ...

Long-read genome sequencing reveals autism gene variants and structural changes, helping explain missing heritability and advancing precision diagnostics.

KYOTO – An international team of researchers has taken an important step toward understanding how gene expression is controlled across the human genome. A new study has comprehensively analyzed ...

Gene regulation is far more predictable than previously believed, scientists conclude after developing the deep learning model PARM. This might bring an end to a scientific mystery: how genes know ...

Without 8 or 9 hours of sleep, most of us end up staggering around like zombies. But according to a new study, some people have a genetic mutation that makes them feel perfectly alive after sleeping ...

A Phase I/IIa clinical trials co-led by Linda Laux, MD, from Ann & Robert H. Lurie Children's Hospital of Chicago, show that ...

Some genetic mutations that are expected to completely stop a gene from working surprisingly cause only mild or even no symptoms. Researchers in ...

A team led by UC Davis poultry scientist Huaijun Zhou has created the first comprehensive map of gene regulation in breeds of chickens. The map could be a resource for finding resistance to H5N1 ...

Groundbreaking Phase 1/2a clinical trials co-led by Linda Laux, MD, from Ann & Robert H. Lurie Children's Hospital of Chicago, show that the first gene regulation treatment for epilepsy is safe and ...