The primary research interest of Minerva M. Carrasquillo, Ph.D., is uncovering the effect of DNA sequence variation in common and complex diseases, such as Alzheimer's disease.
The study of common, complex phenotypes is confounded by the heterogeneity caused by multiple gene-gene and gene-environment interactions.
This challenge makes studying Alzheimer's disease a fascinating and rewarding research project, as it holds the potential of identifying druggable gene targets and genetic variants that could be used for early disease detection and prevention of this devastating neurodegenerative disease, which currently affects approximately 5 million Americans.
Dr. Carrasquillo spearheaded a genome-wide association study aimed at identifying novel genes that have an effect on the risk of Alzheimer's disease. She's also part of an international consortium that aims to study the genetics of Alzheimer's disease using the largest sample set of Alzheimer's disease cases available to date.
- Identification of novel genetic variants with an effect on the risk of Alzheimer's disease through tests of association in a large late-onset Alzheimer's disease case-control series
- Evaluation of the effect of novel, putative Alzheimer's disease risks genetic variants on gene expression and amyloid-beta levels
Significance to patient care
By uncovering genetic factors that modify the risk of Alzheimer's disease, there is the potential to identify druggable gene targets and genetic variants that could be used for early disease detection and prevention.