Researchers have identified mutations in the non-coding gene RNU2-2 as a cause of a newly defined neurodevelopmental disorder ...

For some people with a rare metabolic condition called trimethylaminuria (TMAU), or fish odor syndrome, their body produces ...

Even before Cassie Chow was born, her mother’s pregnancy scans had already shown she had an enlarged left leg. Right after ...

Hemophilia, a rare inherited bleeding disorder, is primarily caused by mutations in specific genes that impair the body’s ...

Researchers from Children's Hospital of Philadelphia (CHOP) and the Perelman School of Medicine at the University of ...

Researchers from the Department of Pathology, School of Clinical Medicine at the LKS Faculty of Medicine of the University of ...

Investigators from Mass General Brigham and Beth Israel Deaconess Medical Center have developed STITCHR, a new gene editing ...

Most cancer genome studies have focused on mutations in the tumor itself and how such gene variants allow a tumor to grow unchecked. A new study takes a deep dive into inherited cancer mutations ...

UD researchers extracted the DNA from the samples and worked to amplify the MDV meq oncogene, a gene essential for MDV’s ability to cause cancer, to look at its mutations. Parcells identified ...