The Department of Neuroscience is proud to announce the Outstanding Research Award that recognizes a third year medical student for making significant contributions to the field of clinical research and/or laboratory research beyond their Phase 1 year summer experience goes to Alexandra Pietraszkiewicz. She obtained her research training in the Mohan laboratory and helped make pivotal findings on the roles of type III intermediate filament proteins in corneal fibrosis. Alexandra is currently completing an additional year of research at the National Eye Institute investigating human transciptome changes and global molecular processes that contribute to retinal diseases. This research experience is sponsored by the Medical Student Research Program at the National Institutes of Health.
Mason Yeh, postdoctoral fellow in Eric Levine’s laboratory, was awarded a seed grant from IBACS, the Connecticut Institute for the Brain and Cognitive Sciences, for a project, entitled “Development of a 3D culture model of human cortical development”. The goal of this project is to develop a three-dimensional cell culture system for growing cerebral organoids (sometimes referred to as “mini-brains”) from human induced pluripotent stem cells (iPSCs). The long-term goal is to use this culture system to study molecular and cellular pathophysiology underlying autism and related neurodevelopmental disorders, with the hope of identifying novel targets for therapeutic intervention.
Researchers at UConn Health used stem cells derived from patients with Angelman syndrome to identify the underlying cellular defects that cause the rare neurogenetic disorder, an important step in the ongoing search for potential treatments for Angelman and a possible cure.
Up until now, scientists trying to understand why the brain cells of individuals with Angelman fail to develop properly have relied primarily on mouse models that mimic the disorder.
By using human stem cells that are genetically identical to the brain cells of Angelman syndrome patients, researchers now have a much clearer and more accurate picture of what is going wrong.
In a study appearing today in the journal Nature Communications, the researchers report that the brain cells of individuals with Angelman syndrome fail to properly mature, causing a cascade of other developmental deficits that result in Angelman syndrome.
“We looked at the electrical activity of these brain cells and their ability to form connections, which is critical to the working circuits in the brain,”says UConn Health neuroscientist Eric Levine, the study’s lead author.
“We found that the cells from Angelman patients had impairments,” says Levine. “They didn’t develop the same way as they do in people who don’t have the disorder. They failed to develop mature electrical activity and they didn’t form connections as readily.”
Angelman syndrome appears in one out of every 15,000 live births. People with Angelman have developmental delays, are prone to seizures, and can have trouble walking or balancing. They have limited speech, but generally present a happy demeanor, frequently laughing and smiling…(more)