With 80% of rare diseases having a genetic cause, getting a head start on genetic testing for infants can be the key to an ...

Advocates fear the U.S. could return to a patchwork system in which richer states provide more comprehensive screenings than ...

Matter of Time,” a documentary featuring legendary rocker Eddie Vedder premiering this fall at the Tribeca Film Festival, is ...

A seminal study has uncovered a new genetic cause of neurodevelopmental disorders (NDDs). The discovery offers both closure and hope to potentially thousands of families worldwide who have long been ...

Rare diseases affect 300 million globally, posing diagnostic challenges due to limited awareness and complex genetic factors. Addressing these gaps is crucial.

Researchers have discovered an experimental medication that significantly reduces a cholesterol-like particle that can ...

Danon disease is a “rare genetic disorder that can affect you in many ways. It most often damages your heart, muscles, retina ...

Researchers at the Garvan Institute of Medical Research have launched the Genomics of Rare Disease Registry, to help improve ...

Study identifies a new set of genes and cellular pathway that play a role in the risk of developing Parkinson’s disease ...

Although sedentary behavior may be an evolutionarily selected trait, it is still important to try to be physically active, says a new study. Researchers have shown for the first time that genetic ...

Me has filed for bankruptcy as is seeking buyers. Here's what could happen to the company's DNA database, one of the largest ...