In a global breakthrough published in Nature Genetics, researchers have successfully mapped the cells and genes that regulate ...

A pivotal medical milestone has been reached. For the first time ever, researchers have used a personalized CRISPR-based gene therapy to treat an infant’s rare and life-threatening illness. Doctors at ...

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.

In a stunning medical breakthrough, scientists used customized CRISPR gene editing to save a baby’s life from a rare, previously incurable liver disorder—CPS1 deficiency—just six months after birth.

A Longview toddler bravely recovers in Dallas after a bone marrow transplant to treat IPEX syndrome, a rare disorder causing ...

In a medical first, doctors raced to create a bespoke CRISPR gene therapy for a boy born with a deadly genetic disease and delivered it to him a mere six and a half months after birth. The CRISPR ...

Sclerosing bone dysplasias are a heterogeneous group of rare skeletal disorders characterised by abnormally increased bone density and altered microarchitecture. These conditions range from localised ...

Scientists have successfully restored hearing in animal models of ENPP1 deficiency, a genetic disease in which individuals lack an enzyme essential for bone and blood vessel health. The rare disorder ...

Dec 29 (Reuters) - Ultragenyx Pharmaceutical (RARE.O), opens new tab said on Monday that late-stage studies showed its drug for a type of genetic bone disease failed to reduce the number of fractures ...

NIH-supported gene-editing platform lays groundwork to rapidly develop treatments for other rare genetic diseases A research team supported by the National Institutes of Health (NIH) has developed and ...