The Pinter lab studies genetic syndromes that change the expression levels of many genes residing on a single chromosome, for example Down syndrome (DS, trisomy 21) and Turner syndrome (TS, monosomy X). We have established human stem cell (iPSC) lines of these aneuploidies, along with isogenic euploid control lines, to model cellular phenotypes associated with these conditions. To correct the dosage of genes on chromosome X or 21, we use epigenetic (XIST RNA) and CRISPR tools to study their developmental impact, and map cellular phenotypes back to specific mis-expressed genes, for example, in our current preprint: https://www.biorxiv.org/content/10.1101/2022.05.11.491519v1.

For the summer of 2023 we have both in-person research opportunities in cellular characterization of iPSC-derived cell types, as well as hybrid research opportunities in bioinformatics analysis of transcriptomic or high-content imaging data. Note: The Health Research Program has certain in-person participation requirements, including a presentation at Summer Research Day, that a student working in a hybrid arrangement would be expected to satisfy.

Additionally:

1.) For in-person research, we would like an applicant to have cell culture experience. Additional expertise in cellular & molecular biology, like immuno-staining and qRT-PCR are preferred but not required.

2.) For hybrid research, we would like an applicant with prior computational expertise (unix, perl, pyhon, C or R). We’ve also had good success in training students without computational expertise but prior interest in statistics.