Diagnosing rare Mendelian disorders is a labor-intensive task, even for experienced geneticists. Investigators at Baylor College of Medicine are trying to make the process more efficient using ...

At the genomic level, the researchers identified over 100 regions of the genome where genetic variants influence multiple disorders simultaneously. One region on chromosome 11 stood out as a "hotspot, ...

Researchers from Radboud University Medical Center and University of Basel have discovered new genetic causes of inherited ...

Researchers have identified nearly 300 genetic disorders that can be treated before or immediately after a baby is born. This 'treatable fetal findings list' could improve the diagnosis of genetic ...

Degenerative diseases are a group of conditions characterized by the progressive deterioration of cells, tissues and organs. While some degenerative diseases arise due to environmental factors or ...

As newborn screening and rapid DNA sequencing become routine, we are poised to catch and treat inherited diseases at their earliest stages. Today, we can intervene in the first days or weeks of life.

Certain rare genetic disorders may cause a child to develop obesity. Health experts may refer to these conditions as syndromic childhood obesity. They may affect a child’s metabolism or cause them to ...

Refsum disease is a rare genetic disorder involving the buildup of a type of fat in your blood and tissues called phytanic acid. This buildup can cause vision loss, hearing loss, and weakness and ...

The era of genetic medicines has ushered in novel and exciting ways of treating genetic diseases, one of which includes bringing to reality the promise of a one-time treatment by addressing the root ...

Add Yahoo as a preferred source to see more of our stories on Google. Less than 30% of people with certain genetic variants go blind, despite the faulty genes previously being thought to cause ...