Beatriz C. Freitas, Ph.D.

Title
Postdoctoral Fellow
Department
School of Medicine
Institution
University of California, San Diego
Address
9500 Gilman Drive
City, State, Zip
La Jolla, CA 92093-0683
Country
United States
Phone
(858) 534-9320
E-mail
biacgfreitas[at]gmail.com
Website
http://peds.ucsd.edu/muotri/
Research Field
Neuroscience
Award Year
2011
Country Of Origin
Brazil
Mentor Name
Dr. Alysson R. Muotri

Research

Sporadic Alzheimer�s Disease (SAD) is caused by the interplay of genetic and environmental mechanisms with as much as 60% of SAD risk caused by genetic factors. Genome wideassociation studies (GWAS) have identified important candidate SAD genetic risk variants. Unfortunately, GWAS methods cannot on their own reveal how much each variant contributes to SAD in any one person and what phenotypic changes or differences in drug response are caused by any given variant. While some genes affecting cellular phenotypes associated with SAD have been found, such genes have not yet been systematically identified, nor has the overlap of such genes with potential GWAS “hits” been evaluated. Our underlying hypothesis is that the genome of a patient with SAD contains a set of susceptibility variants that may alter neuronal, glial, or other relevant cellular phenotypes in a detectable manner and may also generate unique patterns (AD signatures) of RNA expression. Genomic variants in SAD patients could contribute to disease in a variety of ways. We are testing the hypothesis that at least some SAD genomes cause a specific microRNA signature in neurons that carry the genomes of patients who developed SAD. Evaluating how genetic microRNA variants overlap with the set(s) of genes altering AD phenotypes in human neurons may provide rapid insights into how these variants drive phenotype.