The study, from scientists at Gladstone Institutes and University of California, San Francisco (UCSF), establishes a comprehensive catalog of genetic sequences involved in brain development and opens the door to new diagnostics or treatments for neurological conditions such as schizophrenia and autism spectrum disorder. The paper, “Massively Parallel Characterization of Regulatory Elements in the Developing Human Cortex,” appears in the journal Science
“We collected a massive amount of data from sequences in noncoding regions of DNA that were already suspected to play a big role in brain development or disease,” says Senior Investigator Katie Pollard, Ph.D., who also serves as director of the Gladstone Institute for Data Science and Biotechnology.
“We were able to functionally test more than 100,000 of them to find out whether they affect gene activity, and then pinpoint sequence changes that could alter their activity in disease.”
Pollard co-led the sweeping study with Nadav Ahituv, Ph.D., professor in the Department of Bioengineering and Therapeutic Sciences at UCSF and director of the UCSF Institute for Human Genetics. Much of the experimental work on brain tissue was led by Tomasz Nowakowski, Ph.D., associate professor of neurological surgery in the UCSF Department of Medicine.
In all, the team found 164 variants associated with psychiatric disorders and 46,802 sequences with enhancer activity in developing neurons, meaning they control the function of a given gene.
By Gladstone Institutes
Article can be accessed on: MedicalXpress