(SALT LAKE CITY)—In an unprecedented international study, researchers from Europe and the United States have shown that individuals carrying a particular genetic variant in the PHACTR1 gene are at ...

Duchenne muscular dystrophy (DMD) is a genetic condition that causes progressive muscle weakness and wasting. It is an X-linked recessive disorder that occurs due to changes in the DMD gene, which ...

Claudia Gonzaga-Jauregui studies molecular diagnostics of rare genetic disorders using genome sequencing and family-based analyses to better understand variants that cause disease. Gonzaga-Jauregui is ...

The cellular glitches underlying a rare genetic disorder called activated PI3K Delta syndrome 2 (APDS2) have been identified. The disorder is caused by genetic variations that disrupt immune cell ...

So far, it has not been possible to explain the causes of around half of all rare hereditary diseases. A Munich research team has developed an algorithm that predicts the effects of genetic mutations ...

The world's largest study of cerebral palsy (CP) genetics has discovered genetic defects are most likely responsible for more than a quarter of cases in Chinese children, rather than a lack of oxygen ...

Systemic lupus erythematosus (SLE), more commonly known as simply lupus, is a chronic autoimmune disease that provokes symptoms from skin rashes and fevers all the way to chronic fatigue and ...

Chances are that you or someone you know experiences migraine—it is one of the most common health disorders in the world. According to 2018 data from the Centers for Disease Control and Prevention, ...

Cluster headaches, anxiety and depression can be debilitating for people living with these conditions. Psychedelic drugs have shown benefits as treatments for these conditions in clinical studies, but ...