Researchers Connect Alzheimer’s-Associated Genetic Variants with Brain Cell Function

Led by scientists at UNC-Chapel Hill and UC-San Francisco, research reveals new non-coding genetic variants associated with Alzheimer’s disease functioning in microglia – brain cells already implicated in the progression of this often-fatal neurodegenerative condition.

Why We Want to Drink, What That Has to Do with Genes, and Why it Matters for Our Alcohol Risk

Motives for drinking — to party, to conform, to cope, or to feel good — are consistent through young adulthood, and genes play a role in how those motives influence alcohol use, a new study of college students suggests. Understanding the mechanisms linking genetic variants to differences in drinking behaviors could present opportunities for predicting individuals’ vulnerability to Alcohol Use Disorder (AUD) and intervening to prevent it. Genetic factors are responsible for about 50% of individual risk of AUD. Much of how that heritability functions is unexplained, however. The relationship between genes and drinking behavior is complex, involving thousands of genetic variants that each have small effects. Critical factors known as endophenotypes, or intermediary phenotypes, affect how an individual’s genetic predisposition manifests as a behavioral trait. For the new study in Alcoholism: Clinical & Environmental Research, investigators sought to determine whether drinking motives are o

All About Eve

New AI model called EVE, developed by scientists at Harvard Medical School and Oxford University, outperforms other AI methods in determining whether a gene variant is benign or disease-causing.
When applied to more than 36 million variants across 3,219 disease-associated proteins and genes, EVE indicated more than 256,000 human gene variants of unknown significance that should be reclassified as benign or pathogenic.

Researchers Discover New Variant of COVID-19 Virus in Columbus, Ohio

Scientists have discovered a new variant of SARS-Cov-2, the virus that causes COVID-19. It carries a mutation identical to the U.K. strain, but it likely arose in a virus strain already in the U.S. The researchers also report the evolution of another U.S. strain that acquired three other gene mutations not previously seen together in SARS-CoV2.

New 3D maps reveal inner workings of immune cell gene expression

The COVID-19 pandemic has highlighted how our small genetic differences can have a tremendous effect on how our bodies respond to disease. Researchers have created 3D maps of how enhancer sequences and genes interact in several types of immune cells. Their new study opens the door to understanding individual risk for diseases from asthma to cancer.

Research News Tip Sheet: Story Ideas from Johns Hopkins Medicine

During the COVID-19 pandemic, Johns Hopkins Medicine Media Relations is focused on disseminating current, accurate and useful information to the public via the media. As part of that effort, we are distributing our “COVID-19 Tip Sheet: Story Ideas from Johns Hopkins” every Tuesday throughout the duration of the outbreak.