Samuel Vaughn, MD, is an Assistant Professor in the Division of Child and Adolescent Psychiatry and director of the Psychiatry Consult Liaison Service at Cincinnati Children's Hospital and Medical Center. As a CL psychiatrist, I see a wide variety of patients with psychiatric needs in the context of medical illness. My career goals are to continue exploring this interplay between mind and body in the context of consult psychiatry in youths.
Over the past few years, in collaboration with Drs Jeff Strawn and Laura Ramsey, I have been evaluating the pharmacogenomics of CYP2C19 metabolized SSRIs, sertraline, and es/citalopram. Our initial work has measured the plasma drug levels of sertraline and es/citalopram, with preliminary data demonstrating a clear association between higher plasma drug levels and slower metabolizer CYP2C19 phenotypes.
Genome wide association studies (GWAS) have identified numerous loci associated with risk of SLE, but the functional impact for most associated variants remains elusive. During my PhD, I examined one SLE-associated locus and demonstrated that SLE risk-associated single nucleotide polymorphisms (SNPs) altered B-cell receptor (BCR) internalization. I found that the specific risk-associated gene, PXK, was collocated with the BCR and that B cells from patients carrying the risk-associated SNP had differential BCR internalization compared with controls. This work helped expand our understanding of the importance of B cells to SLE pathogenesis and was one of just a few studies demonstrating a clear functional impact of an SLE risk-associated SNP.