Meet the luckiest people on Earth — individuals carrying a rare genetic mutation that prevents wrinkles from forming even as they age well into their 80s. These genetic lottery winners have provided ...

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 ...

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 ...

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

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 ...

Researchers have identified specific genes containing rare mutations that significantly increase the likelihood of developing attention deficit hyperactivity disorder. These findings, published in the ...

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 ...

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

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 ...

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

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 ...