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 ...

A long-established drug with a diverse medical history is drawing new attention for its potential role in treating an ultra-rare and life-threatening genetic disorder. Early findings suggest that a me ...

Rare genetic traits are features that are uncommon within the general population. They can lead to different observable features or to rare physical abilities. Rare genetic traits are typically ...

Johns Hopkins Medicine laboratory scientists say they have developed a potential new way to treat a variety of rare genetic diseases marked by too low levels of specific cellular proteins. To boost ...

Blood cancer is an umbrella term for a variety of diseases that affect the blood, bone marrow and lymphatic system. Like most cancers, the cause is usually mutations in the DNA, which are genetic ...

In a global first, UConn Health, in collaboration with Connecticut Children's, has dosed a patient in a groundbreaking clinical trial testing gene editing technology to treat glycogen storage disease ...

Researchers at the Garvan Institute of Medical Research have launched the Genomics of Rare Disease Registry, to help improve diagnoses and treatment options for the estimated two million people who ...

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 ...

Growth charts for children with rare genetic disorders - giving healthcare professionals and families clearer guidance on how a child is developing - have been created by an international team, led by ...