(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 ...

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 ...

Mayo Clinic researchers have identified a rare mutation in the MET gene that can directly cause metabolic dysfunction-associated steatotic liver disease. The mutation disrupts the liver’s ability to ...

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 ...

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 ...

Chong’s study, “Deciphering the exact breakpoints of structural variations using long sequencing reads with DeBreak,” was recently published in Nature Communications. UAB researchers have developed a ...

Certain rare genetic disorders may cause a child to develop obesity. Health experts may refer to these conditions as syndromic childhood obesity. They may affect a child’s metabolism or cause them to ...

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 ...

Raynaud’s phenomenon is a condition that causes the blood vessels in the extremities to narrow, restricting blood flow. The cause of Raynaud’s phenomenon has not been exactly known and it is possible ...