(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 ...

The genetic causes of very early menopause will have to be reconsidered after researchers found that nearly all women who carried variations thought to cause the condition in fact had their menopause ...

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 ...

Transthyretin protein is produced by the liver and helps circulate vitamin A and thyroxine through the body. This genetic variation causes misfolding of the transthyretin protein leading to hereditary ...

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder that is thought to have a significant link to ...

Systemic lupus erythematosus (SLE) is a complex autoimmune disease. Enhanced activity of the TLR7 signaling pathway — which is involved in RNA sensing — is linked to the pathogenesis of SLE, but no ...

Project MinE, an international consortium co-founded by researchers at King's College London, has identified new genetic ...

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 ...

New research establishes an identifiable genetic component to motor neuron disease for 1 in 4 people with the disease; a ...

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 ...