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 ...

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 ...

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 ...

Researchers at the Weill Institute for Cell and Molecular Biology have uncovered new evidence that two major types of gene-controlling DNA sequences, promoters and enhancers, operate with a shared ...

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 ...