Children with infantile-onset Pompe's disease experienced motor function and cardiac improvements after receiving an adeno-associated virus serotype 9 (AAV9)-mediated gene therapy, a pilot study ...

In early 2022, Connor started a new medication called Nexviazyme, but each treatment took 13 hours. This summer, he received ...

Did you know that most of the 7,000 to 10,000 rare diseases affect children? With 80% of rare diseases having a genetic cause, getting a head start on genetic testing for infants can be the key to an ...

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 ...