A 5-year-old boy who was born with a rare genetic condition is now able to walk by himself, his mother has said, after ...

Rare inherited genetic variants significantly increase familial lung cancer risk, offering new targets for early detection.

Bethany Oeming has often fielded questions from people wondering what the secret was to her muscular body. At 36, when she was pregnant with her second child, she was diagnosed with a rare genetic ...

A new study published in Communications Medicine, a Nature publication, details the discovery of rare gene variants that increase the prevalence of Type 2 diabetes in multiple generations of Asian ...

Scientists at deCODE genetics, a subsidiary of AMGEN, have discovered rare sequence variants, predicted to cause a loss of function of ITSN1, that are associated with a high risk of Parkinson's ...

The parents of 7-week-old Dhruvan Gopi were warned he might not survive the night as specialists converged around his crib at ...

Ever looked in the mirror and wondered why you’ve got those tiny cheek holes or why you can see colors your friends can’t? It ...

TALLAHASSEE, Fla. (WFLA) — With thousands of rare diseases affecting millions of families worldwide, one Tampa Bay lawmaker is taking action to position Florida as a national leader in genetic ...

With 80% of rare diseases having a genetic basis, it is critical for life sciences organizations to effectively identify and recruit participants whose molecular diagnoses match study criteria for new ...

Meet the luckiest people on Earth — individuals carrying a rare genetic mutation that prevents wrinkles from forming even as they age well into their 80s. These genetic lottery winners have provided ...