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 ...

Marci Shelman and Tristan Dederscheck’s “miracle” baby was diagnosed with neonatal Marfan syndrome. After four months in the ...

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

Tiffany Fransen, diagnosed with Friedreich's ataxia, faces challenges from this rare disease. The genetic disorder affects ...

Kerala doctors successfully performed a life-saving liver transplant on a two-and-a-half-year-old child diagnosed with the ...

U.S. Health Secretary Robert F. Kennedy Jr. on Tuesday added two rare genetic disorders, Duchenne Muscular Dystrophy and Metachromatic Leukodystrophy, to the federal newborn screening list to enable ...

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 ...

GeneDx, which specializes in diagnostics for rare and ultra-rare genetic disorders, is helping to get kids the diagnostic attention they need as part of Diagnosis is Power. Currently, one in 10 ...

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 Louisville mother turned her grief into motivation by becoming a respiratory therapist at the same hospital where her son ...

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 ...