For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for their condition. Exome sequencing came back clean. Chromosomal microarray found ...

Rosa Rademakers and Bryan Traynor received this year’s Breakthrough Prize for identifying the most common genetic cause of ...

In a new study published in Genes & Development, research led by Dr Lila Allou at the MRC Laboratory of Medical Sciences (LMS) in London and Professor ...

Developmental dysplasia of the hip (DDH) is a polygenetic disorder that increases the risk of hip osteoarthritis. A new ...

This recent study, published in the journal Nature Communications and led by Nitzan Gonen of Bar-Ilan University, reports ...

Learn how small mutations in non-coding DNA can alter sex development in rodents.

Explore the decades-long journey to map the full human genome, from early breakthroughs to the first complete, gapless DNA ...

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

Mitochondria are increasingly recognized as dynamic signaling hubs that influence cell fate not only through bioenergetics, but also through exchange of ...

A study shows that changes in noncoding genes can trigger autoimmune diabetes in infants by affecting hundreds of immune-related genes, expanding understanding of genetic disease.

Neonatal autoimmune diabetes is caused by mutations in non-coding genes RNU4ATAC and RNU6ATAC, which disrupt gene regulation ...

Humans have about 3 billion DNA bases in their genetic makeup. However, most of it does not encode for protein.