The Program for Applied Research and Development in Genomic Medicine (PARADIGM) At the university of florida

FACULTY MENTOR: Barry Byrne, M.D.

RESEARCH PROJECT: Dr. Benevides’s research focuses on the development and testing of novel AAV gene therapy construct for the treatment of Pompe disease. His background in respiratory rehabilitation and neural control of breathing led him to study Pompe disease, a glycogen storage disorder in which both the respiratory and nervous systems are heavily affected. In his current work, he is assessing novel AAV constructs for their ability to effectively treat the neural and respiratory aspects of Pompe disease. His long-term goal is to advance genomic treatments that improve the health and quality of life for individuals with neuromuscular diseases, particularly addressing respiratory dysfunction.

BACKGROUND: Ph.D., University of Florida

FACULTY MENTOR: Julio Duarte, Pharm.D., Ph.D., FAHA
 
RESEARCH PROJECT: “Improving the Implementation of Preemptive Pharmacogenetic Testing with a Focus in Patient Populations Which Are Medically Underserved”

Dr. Gawronski’s current research aims to improve preemptive pharmacogenetic testing implementation, especially in medically underserved populations, with the goal of equitable improvement in individualized medication prescribing. His research seeks to discover patient factors which are predictive of being prescribed drugs with pharmacogenetic guidelines, determine the effect of preemptive pharmacogenetic testing implementation on patient outcomes, and implement quick response (QR) code-based pharmacogenetic reporting methods. This work should lead to advancements in the clinical implementation of preemptive pharmacogenetic testing, leading to the increased utilization of pharmacogenetic results across the healthcare system.
 
BACKGROUND: Pharm.D., University of Florida College of Pharmacy
 

FACULTY MENTOR: Jatinder K. Lamba, PhD, MSc

RESEARCH PROJECT: “Genome-wide Association Study in Children Diagnosed with Acute Myeloid Leukemia”

Dr. Marrero’s research efforts are focused on identifying genetic markers predictive of therapeutic outcome in pediatric cancer patients. Dr. Marrero’s long-term goal is developing algorithms to incorporate pharmacogenomic markers with other prognostic factors to advance precision medicine in oncology.

BACKGROUND: PharmD, Palm Beach Atlantic University, Gregory School of Pharmacy

FACULTY MENTOR: Danxin Wang M.D., Ph.D.

RESEARCH PROJECT: “Identification of Functional Regulatory Variants of CYP2C9 in African Americans”

Currently, several genetic biomarkers in CYP2C9 are available but large variation in the expression and activity of CYP2C9 still remains unexplained, especially in African Americans. Dr. Montalvo’s work focuses on the identification and characterization of the novel functional regulatory genetic variants that control the expression of CYP2C9 in African Americans. The long-term goal is to improve existing CYP2C9 genotyping panels for more accurate prediction of CYP2C9 activity. These findings will enhance genotype-guided therapy for warfarin and many other drugs metabolized by CYP2C9 to improve clinical outcomes for all populations. 

BACKGROUND: Pharm.D., University of Florida

FACULTY MENTORS: Jatinder K. Lamba, PhD, MSc and Christopher D. Vulpe, MD, PhD

RESEARCH PROJECT: “The CRISPR Synthetic Lethality Screens Identify Resistant/Sensitive Modulators of Chemotherapy in Acute Myeloid Leukemia (AML)”

Dr. Nguyen’s research is focused on understanding the molecular mechanisms underlying patient responses to both standard chemotherapy and newly approved agents in AML to identify novel pathways and targets to overcome drug resistance. The research’s long-term goal is to apply these findings to uncover new targets and drugs that overcome chemoresistance, as well as to personalize and prioritize treatment in order to improve patient outcomes.

BACKGROUND: PharmD/MS (2019), University of Maryland School of Pharmacy

Faculty Mentor: Ali Zarrinpar, M.D., Ph.D.

RESEARCH PROJECT: “Genetic Mechanisms of Hepatic Fibrosis and Liver Cancer: Exploring CEACAM1’s Role in MASH and HCC Progression”

Dr. Rizk’s research investigates the genetic mechanisms driving the development of hepatic fibrosis and hepatocarcinogenesis as well as the role of CEACAM1 glycoprotein and its’ interactions with genes previously implicated in the development of hepatic fibrosis and hepatocellular carcinoma by correlating the genetic variations of CEACAM1 with the severity of hepatic fibrosis and the development of liver cancer in patients with Metabolic dysfunction associated steatohepatitis (MASH).

Dr. Rizk’s will be also focusing on analyzing the effects of polymorphisms in PNPLA3, TM6SF2, HSD17B3, and MBOAT7 on CEACAM1 expression and their roles in the progression from hepatic steatosis to fibrosis as well as exploring the mechanisms through which modulation of CEACAM1 and interaction with insulin resistance affects susceptibility to Hepatocellular carcinoma (HCC) in genetically modified mouse models.

Background: M.D., University of Balamand, Beirut Lebanon