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Tag: genetic conditions

Romantic Relationships Ease Influence Of Genetic Alcohol Consumption Risk

People with a genetic predisposition to risky alcohol behavior are less likely to drink frequently, become intoxicated often, or suffer from alcohol dependence symptoms if they are in a romantic relationship, according to a new study led by a Virginia Commonwealth University researcher. “We found that the effect of genetic risk for alcohol use was […]

Appendix Removal Is Linked To Lower Risk Of Parkinson’s

People who had their appendix removed early in life had a lower risk of developing Parkinson’s disease decades later, researchers report. The finding represents a new clue that the tremor-inducing brain disease may get its start not in the brain but in the gut. A peek at surgically removed appendix tissue shows this tiny organ, […]

STXBP1 Encephalopathy Disease Mechanisms Identified

Cortical hyperexcitability, protein instability, and haploinsufficiency are disease mechanisms underlying the disorder STXBP1 encephalopathy with epilepsy, new research from a group in the Netherlands indicates. STXBP1 encephalopathy with epilepsy is a condition characterized by recurrent seizures (epilepsy), abnormal brain function (encephalopathy), and intellectual disability, including autism spectrum disorders. It is caused by mutations in the […]

Fragile X Syndrome Infants Have Less Developed White Matter

Babies with the neurodevelopmental condition fragile X syndrome had less-developed white matter compared to infants that did not develop the condition, an imaging study from UNC School of Medicine researchers indicates. The work shows that there are brain differences related to the neurodevelopmental disorder established well before a diagnosis is typically made at age three […]