CNBC's Becky Quick opened up about her 9-year-old daughter Kaylie's battle with a rare genetic disorder called SYNGAP1 ...

CNBC "Squawk Box" anchor Becky Quick details her daughter's rare disease journey, and explains why it inspired her to launch ...

CNBC's Squawk Box host Becky Quick opened up about her daughter Kaylie's battle with SYNGAP1, a rare genetic disorder ...

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 ...

Audrey Tyrell, 13, was diagnosed with a rare genetic disorder called Usher syndrome at age 10. The teen has created a bucket ...

An $11 million gift was given in the fight against rare genetic diseases. Lurie Children's Hospital in Chicago's Streeterville neighborhood is celebrating a donation that will help provide faster, ...

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 ...

A 5-year-old boy who was born with a rare genetic condition is now able to walk by himself, his mother has said, after ...

Doctors announced this week that they have treated a newborn baby with a rare genetic disease using the world’s first personalized gene editing therapy. Geoff Bennett discussed the treatment and its ...

A single, untargeted proteomics test for rare genetic diseases has been developed. A research team from the University of Melbourne (Australia) and Murdoch Children’s Research Institute (Victoria, ...

Olivia Burtwistle is a 12-year-old girl in search of a cure for Batten disease. — -- Olivia Burtwistle grew as a typically curious and energetic child until soon after her fourth birthday, when ...

A heartbroken mother has bravely spoken out after losing her husband and son to the same rare genetic disorder.