Families in Connecticut and beyond are looking for answers when it comes to treating Angelman Syndrome, but fear funding ...

A cat has nine lives, but I believe that I have more. While I can’t remember the exact date that I started feeling sick, I have struggled with fatigue for a long time. I thought it was just that, a ...

Affecting 1 in 500 people, hypertrophic cardiomyopathy is a condition in which the walls of the left ventricle, the heart's ...

A study led by bioengineers at the University of California San Diego sheds new light on how a type of heart valve disease, called aortic valve stenosis, progresses differently in males and females.

Fostering dialogue between neurologists, researchers, patient representatives, and policymakers is an important step towards ...

The show is based on the real story of Natalia Grace, a Ukrainian girl born with spondyloepiphyseal dysplasia congenita.

Patients with Fuchs endothelial corneal dystrophy with particular genetic markers are at higher risk for surgery and vision loss.

When Beverly Jacobson first learned that her unborn daughter Verity would be born with the rare genetic condition trisomy 18, ...

Consanguinity is common in multiple regions, particularly in the Middle East and Africa, and can have positive and negative consequences. A significant proportion of genetic diseases manifest as ...

The efforts represent a first for the 35-year-old company when it comes to commercialization.