Large deletions and duplications of chromosomal area 22q11 — called copy number variations — have been linked to autism. Noboru Hiroi, an associate professor of psychiatry at Albert Einstein College of Medicine, studies mice with too few or too many copies of genes within this region, aiming to determine their role in causing features of the disorder. In some cases, interfering with the genes causes problems with learning and memory or social interaction.
Testing human genetic findings in the mouse is challenging. For one, researchers must pick, among many genes implicated in autism, the most promising candidates. After a Monday afternoon poster session at the Society for Neuroscience meeting in Chicago, Hiroi talked about the challenges of following up genetic findings, and the phenotypic variability even among people with the same stretch of deleted chromosome.