Superheroes are born out of diversity, with unique genetic traits that make them stand out of the crowd. Well, whether or not you've seen them, there are real-life superheroes that walk among us every ...

GENA highlights how AI and genomic intelligence transform rare disease identification, speeding diagnosis and improving ...

Faced with a life-threatening metabolic disease, KJ’s doctors at Children’s Hospital of Philadelphia sprinted to create a ...

With a shared purpose, we can realize the true promise of CRISPR and improve healthcare, providing hope to more patients with ...

Huntington’s disease is a rare inherited neurological disorder that progressively affects movement, cognition and mental ...

A Florida state legislator sponsored the nation's first state-backed genetic screening program after his son died from a rare genetic disease.

When we think of giraffes, we instantly think of them being the typical combination of dark orange or brown patches surrounded by lighter hair. However, there is a small number of giraffes that have a ...

Small changes in genes can make us unique, and they can also have biological effects. Scientists have identified a genetic mutation in a gene called SMIM1 that encodes for a blood group called Vel, ...

Catherine O’Hara, who died at 71, once revealed she lived with situs inversus, a rare genetic condition in which internal organs are reversed. During an interview, “I am a freak,” she joked at the ...

A new study links telomere length genetics to IPF risk, showing how rare variants and polygenic scores may guide future screening and precision care.