Experiments on an ultra-rare genetic mutation that causes neurodegeneration in children have helped uncover a new mechanism ...

The first infant to undergo gene-editing therapy has accomplished another first — his first steps. KJ Muldoon is walking and ...

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 ...

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 ...

U.S. Health Secretary Robert F. Kennedy Jr. on Tuesday added two rare genetic disorders, Duchenne Muscular Dystrophy and ...

Ann & Robert H. Lurie Children’s Hospital of Chicago has received an $11 million gift to establish the Edwards Family Division of Genetics and Rare Diseases.

The treatment uses a modified, harmless virus to deliver healthy genes to a patient’s cells to treat genetic diseases. Read ...

Chicago's Lurie's Children's Hospital will expand care for patients living with rare genetic diseases and conditions thanks to a $11 million donation.

Scientists at City of Hope have unraveled how citrin deficiency (CD), a rare genetic disorder that prevents the liver from ...

A family on Brookside’s “Candy Cane Lane” has transformed their home into a winter wonderland to raise money for their son's ...

BioMarin Pharmaceutical said on Friday it would acquire Amicus Therapeutics for about $4.8 billion, in the drugmaker's second ...