Stories about: neurogenetics

‘Hotspots’ for DNA breakage in neurons may promote brain genetic diversity, disease

DNA breakage brain
DNA breaks in certain genes may help brains evolve, but also can cause disease (Constantin Ciprian/Shutterstock)

As organs go, the brain seems to harbor an abundance of somatic mutations — genetic variants that arise after conception and affect only some of our neurons. In a recent study in Science, researchers found about 1,500 variants in each of neurons they sampled.

New research revealing the propensity of DNA to break in certain spots backs up the idea of a genetically diverse brain. Reported in Cell last month, it also suggests a new avenue for thinking about brain development, brain tumors and neurodevelopmental/psychiatric diseases.

Read Full Story | Leave a Comment

Can mice model human behaviors? Maybe better than you think

neurobehavioral mouse assays
(gegenart/Shutterstock)

A mouse surrounded by computer screens turns its head when it notices lines moving across one of them, as a camera captures this evidence of visual acuity. A chamber similarly equipped with video cameras tests social interaction between mice. A small swimming pool, with shapes on its walls as navigational cues, lets scientists gauge a mouse’s spatial memory. A pint-sized treadmill, with a tiny camera to watch foot placement, measures gait.

Here in the Neurobehavioral Developmental Core at Boston Children’s Hospital, managed by Nick Andrews, PhD, the well-tended mice also have opportunities to play: “If you have a happy mouse,” says Andrews, “researchers get better, more consistent results.”

Read Full Story | Leave a Comment

The neurology resident that could

Eye muscles, the nerves that control them, and where things go wrong (click to enlarge)

Elizabeth Engle used to wait in peoples’ driveways until midnight, hoping to enroll them in her genetic studies of eye-movement disorders. She landed there by chance: during her neurology residency, she saw a little boy whose eyes were frozen in a downward gaze. Wanting to find a solution to a disorder that others had written off, she talked her way into the muscular dystrophy genetics lab of Alan Beggs and Lou Kunkel at Children’s.

Why muscular dystrophy? That tragic muscle-weakening disease somehow spares the eye muscles. Engle thought if Beggs and Kunkel took her on, she could answer two questions at once – what was protecting the eye muscles in muscular dystrophy, and what had caused the little boy’s fixed gaze and droopy eyelids. Plus, she needed laboratory training to study the samples she’d started gathering. “I didn’t have a PhD and was never officially trained in the lab,” she once said. “I didn’t even know how to make chemical solutions.”

Read Full Story | Leave a Comment