Researchers led by the University of Vienna and Liège University Hospital Center have identified genetic variants associated ...

Rare genetic traits are features that are uncommon within the general population. They can lead to different observable features or to rare physical abilities. Rare genetic traits are typically ...

In a major leap for genetic diagnostics, scientists from the University of Melbourne and the Murdoch Children's Research Institute (MCRI) have developed a groundbreaking rapid blood test that can ...

Blood cancer is an umbrella term for a variety of diseases that affect the blood, bone marrow and lymphatic system. Like most cancers, the cause is usually mutations in the DNA, which are genetic ...

A groundbreaking blood test promises to transform the diagnosis of rare genetic diseases in babies and children, offering results in under three days. A groundbreaking blood test promises to transform ...

Researchers identified the earliest case of a genetic disease with the help of DNA: ...

Researchers at the Eye Genetics Research Unit at Children's Medical Research Institute (CMRI) are the first in the world to use stem cells to study one of the genetic causes of Leber Congenital ...

In its standard definition, the word "rare" describes something that doesn't happen very often. So families who receive a diagnosis of a "rare genetic disease" understandably feel isolated and that ...

Virginia Tech researchers discovered an indication hidden in the brain that may help doctors identify children suffering from a rare genetic disease earlier. Their findings were published recently in ...

Researchers at the Broad Institute and The Jackson Laboratory have used prime editing, a precise and versatile form of gene editing, to correct the root cause of AHC in mice. The team used a scalable ...