One in 10 Americans live with a rare disease, which often lacks effective treatments. Such is the case for PIGA-CDG, an ultra ...

LIG4 syndrome is an exceptionally rare disorder caused by a genetic mutation that prevents the body from repairing damaged ...

Researchers at Washington University School of Medicine in St. Louis have conducted a longitudinal study on an individual ...

Gene editing is already being used to treat a handful of rare genetic diseases; however, most therapies involve breaking or ...

The FDA has made some modest efforts, but it needs an internal organization that understands and would be an aggressive ...

Three patients with spinal muscular atrophy had improved muscle strength and could walk farther after a month of daily spinal ...

Human genes that encode proteins often contain non-coding segments known as introns. Removing introns is crucial for the proper expression of genetic information. Understanding how our cells ...

A new TLC reality series, Jay & Pamela, is just around the corner—and its stars are an engaged couple born with the same ...

Ozzy Osbourne has been battling a rare form of Parkinson's Disease known as Parkin 2. In 2020, he disclosed to his fans that ...

In two new papers, researchers from The Jackson Laboratory (JAX) report the successful use of two approaches -- gene therapy and bone marrow transplantation – to alleviate symptoms of multiple ...