Influencer Hannah Campbell announced that her 10-month-old daughter, Elliana Rose, has died. “Our sweet girl Elliana Rose ...

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

After a devastating family loss, Chicago Med character Caitlin Lenox remains haunted by GSS, a rare, genetic prion disease.

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 ...

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

At only two days old, Sophie was losing too much weight, and too quickly. Further genetic testing would show that Sophie has ...