Stephen Semick is a medical student at the University of Maryland School of Medicine. He previously worked in Andrew Jaffe’s lab at the Lieber Institute for Brain Development where he helped investigate the genomic underpinnings of brain disorders and diseases such as Alzheimer’s disease, autism spectrum disorder, and schizophrenia.
M.D., Expected 2022
University of Maryland School of Medicine
B.S. in Mathematics | B.S. in Physiology & Neurobiology, 2016
University of Maryland, College Park
We explored the association between schizophrenia GWAS risk at locus 11q25 and local transcript expression of SNX19. We identified a prominent class of GWAS risk-associated SNX19 transcripts defined by an exon-exon splice junction. Further work suggests local epigenetic marks mediate the effect of risk variants on local SNX19 risk transcript expression.
By combining RNA-sequencing and DNA methylation data across four brain regions of neurotypical (N=49) and Alzheimer's disease patients (N=24), we were able to identify new genes associated with Alzheimer's disease.
We investigated the effects of smoking-exposure on prenatal and adult gene expression in the frontal cortex. We found developmentally-dependent gene expression differences between smoking-exposed and -unexposed brains. These expression differences were enriched for the gene signatures of autism spectrum disorder.
Background: Gulf War (GW) Illness (GWI) is a debilitating condition with a complex constellation of immune, endocrine and neurological symptoms, …