Trainee Author: Yuetiva (Deming) Robles, PhD
University of Wisconsin-Madison
(Photo courtesy Robles)
Deming Y, et al. The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer’s disease risk. 2019 Aug 14;505(11)
In this study, Deming et al. identify the MS4A gene cluster as a regulator of soluble TREM2 (sTREM2), a known biomarker of Alzheimer’s disease risk. They confirm that the SNPs associated with cerebrospinal fluid (CSF) sTREM2 influenced expression of MS4A while also confirming that modulation of MS4A by overexpression, knockdown, and IL-4 mediated activation, modulated sTREM levels in cellular studies. In total, this study investigated the molecular mechanism underlying a GWAS signal and identified MS4A as a potential therapeutic target for the treatment of Alzheimer’s disease.
Training & Development Committee: Could you describe your research for us?
Dr. Robles: To help further our understanding of age-related neurodegeneration, my research integrates genomics, proteomics, metabolomics, and bioinformatics methods to help determine the underlying biology impacting Alzheimer’s disease (AD). By focusing on biological mechanisms rather than clinical diagnosis, my research will not only help in understanding AD pathology but also in understanding disorders that share some of the same biological mechanisms. With greater understanding of the underlying biological mechanisms of disease, we can begin to explore therapeutic targets.
TDC: What are your career goals?
Dr. Robles: My career goal is to be an independent scientist leveraging multi-omics and biostatistics in collaborative genetic studies to better understand AD and age-related diseases. I plan on developing methods that will allow me to translate genetic findings into clinical relevance that can lead to better diagnostics and effective treatments.
TDC: Why did you choose genetics as your field of study?
Dr. Robles: I was fascinated with genetics since the age of twelve when I first learned about Mendel’s experiments. Since then, I’ve learned a lot more about molecular genetics and genetic epidemiology, and it is amazing to me that so much information can be contained in a deceptively simple sequence. My inherent passion for genetics combined with the fact that nearly all human diseases have some genetic component made genetics an obvious field of research for me.
TDC: If you could pick three words that describe yourself, what would they be?
Dr. Robles: Proactive, resilient, perspicacious.