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 ...

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

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.

Scientists have identified a new RNA molecule that may play a key role in improving survival in cancer patients.

A study reports that a single nucleotide variant in the genome can make an XY individual develop as female and an XX ...

Researchers at Bar-Ilan University have discovered that changing just one letter in DNA can completely alter sex development ...

Bar-Ilan University researchers use CRISPR tool to alter Enh13 switch controlling Sox9 gene, causing XX mice to develop as ...