Musician Casey McPherson gave up his career to find a cure for his 9-year-old daughter Rose, who has an ultra-rare genetic ...

A Phase I/II trial is set to assess the therapy’s potential efficacy and safety, as well as determine an appropriate dose.

Imagine facing a condition so rare that fewer than 100 people in the world are known to have it — a disorder that can disrupt ...

Use precise geolocation data and actively scan device characteristics for identification. This is done to store and access ...

Michelle and Samantha Pearson are a mother-daughter duo diagnosed with NF1-PN, a rare and painful disease that causes benign ...

Affected populations: Xeroderma pigmentosum is a rare genetic disorder that makes people's skin extremely sensitive to the ...

Marley Mansour, 11, is one of fewer than 100 people in the world with a particular mutation in the NARS1 gene. She's set to ...

Marley Mansour was diagnosed in early 2023 after years of unanswered questions. The rare genetic disorder affects protein ...

Family history of heart disease means you need lower cholesterol numbers. Discover the specific targets that can save your ...

Resources are available to help physicians when they encounter variants of unknown significance during genetic testing, Troy ...

Misinformation persists in news and social media about autism spectrum disorder, but UTSW researchers believe answers lie in ...

Thalassaemia is a genetic blood disorder, not infectious. Early screening via a simple blood test can prevent lifelong ...