Yentli Soto Albrecht, who is a genetic carrier of ALS, is working on research at Penn that could one day prove life-saving.

The FDA proposes new rules allowing mutation-specific gene therapies to qualify for approval despite extremely small patient populations.

Sildenafil—an active ingredient also marketed under the name of Viagra—improves symptoms in patients with Leigh syndrome. This has now been reported in the journal Cell by researchers at Charité—Universitätsmedizin Berlin, together with teams from ...

As Malaysia commemorates National Rare Disease Day and marks the launch of the National Policy for Rare Diseases, long-term, sustainable care for individuals living with rare, complex genetic conditions is now gaining growing attention and interest from across public and private stakeholders.

A Carlsbad family is sharing their son’s story after the 5-year-old was diagnosed with a rare genetic disorder and began a gene therapy trial.

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 scientists with incredible insights into how aging ...

The prescription drug leucovorin is getting a label update, though it’s not what that the US Food and Drug Administration suggested might be coming during a White House briefing in September, when