Congenital heart disease is the most common birth defect, affecting approximately 1 in 100 babies born each year. One of the ...

BridgeBio Pharma BBIO announced that the FDA has accepted its regulatory filing seeking approval for the investigational oral candidate encaleret to treat individuals living with a rare genetic ...

Danon disease has been misclassified as cone dystrophy, cone-rod dystrophy, or retinitis pigmentosa; distinguishing features include the absence of optic disc pallor, bone-spicule pigmentation, and a ...

Bailey Phillips, 16, who has cystinosis, watched her Make-A-Wish Tennessee football gameday air nationally on ESPN's "My Wish" series July 23.

Clinical biobanks that combine genomic data with electronic health records (EHRs) have become powerful resources for ...

Research indicates that adults with NF1 are at a substantially higher risk for clinical depression, with one study finding a ...

UAE scientists at ADSCC uncover a new astrocyte-based mechanism in Huntington’s disease, opening the door to targeted ...

Every cell in the human body carries the same 3 billion letters of DNA, yet a neuron, a heart muscle cell and a pancreatic beta cell each use that shared code to do entirely different jobs. How cells ...

Researchers from the University of California San Diego have created the most detailed map to date of how gene regulation breaks down in human heart failure, revealing how genes are controlled in ...

With the COVID-19 pandemic exposing the critical need for domestic vaccine production, Korea signaled Friday that it intends ...

The fourth annual event is returning to Legacy Park in Ada, continuing efforts to help Parent Project Muscular Dystrophy's fight to End Duchenne's.

Congenital heart disease is the most common birth defect, affecting approximately 1 in 100 babies born each year. One of the many causes for this disorder is having only one functional copy of the ...