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Kipp Academy Lynn Collegiate
Lynn, MA

Matt Tegtmeyer
Stanley Center for Psychiatric Disease

The 22q11 deletion, a deletion of a large region of chromosome 22, is correlated with the advent of psychiatric disorders such as schizophrenia. While it is possible to pinpoint which genes lie within this region of the chromosome, knowing this information is not always the most useful for the early diagnosis and treatment of schizophrenia. To validate and better understand the biological effects of the 22q11.2 deletion, cell biological experiments must investigate the effects of the deletion on protein expression. Amya’s project aimed to identify proteins whose expression levels were affected by the 22q11 deletion, for genes within and outside of the deletion region. Amya identified that protein expression levels for two genes outside the region whose RNA transcription levels were affected by the deletion, were unchanged, suggesting the genes may have alternative functions in this disorder. She also validated decreased protein expression in a gene located within the region. These results are interesting and will spur future research into schizophrenia.

“I decided to apply to this program because I wanted a real research experience and to be fully engrossed in science for a summer—even though I did not know what I was getting myself into by the project descriptions!” said Amya. Because of the program, Amya has expressed interest in potentially doing research for a career.