Lauren MacLaren said her son 'Mack' was diagnosed in the womb with the rare genetic disorder Male-Specific Lethal 2 (MSL2).

“I had to fight to be listened to,” the woman said ...

A miracle baby has ‘amazed’ medics by defying the odds after being diagnosed with an ultra-rare genetic condition – seen in ...

Gracie and her family will fly to New York this summer for the surgery on June 29.

Every few months for the past three years, Jeff Vierstra has been receiving infusions in his spine that target and disable a ...

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how ...

A nursing shortage made it tough for Isaiah Jones to get 24-hour care. That's when his family discovered his new home: ...

Scientists at Sanford Burnham Prebys Medical Discovery Institute and an international team of collaborators have used a genetic sequencing technique called whole exome sequencing to discover a new ...

New rare genetic variants are linked to ALS, expanding understanding of genetic contributors. About a quarter of ALS cases have an identifiable genetic contributor. Findings support broader use of ...

The human immune system is finely tuned to detect and destroy viral threats. But this same defense system can misfire. When ...

Connecticut prides itself on strong schools, world-class healthcare, and a commitment to caring for its most vulnerable residents. We are a state that values education, innovation, and community. Yet ...