T32 Alumni

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Olivia Dong, PhD
Funding supported by T32 grant, 2019-2021

Current Position: Senior Research Health Economist at RTI Health Solutions

Research: My current research involves conducting health economic analyses of pharmacogenetic testing for patients within the Veterans Affairs (VA) health system. One project I will be conducting these health economic analyses for is the PHarmacogenomics Action for cancer SuRvivorship (PHASeR), a new precision health initiative that is providing preemptive pharmacogenetic testing to veterans at various sites across the US. In addition, I will be developing predictive models that identifies patients who would likely benefit from pharmacogenetic testing. By doing these analyses, the VA health system will be better positioned to understand the potential impact pharmacogenetic testing can have on improving patient care and the associated costs to the VA system.    

Melody Shi, MD
Funding supported by T32 grant, 2019-2021

Current Position: Pediatric Specialists of Virgina

Research: Vitamin D is a key player in calcium homeostasis and its synthesis and breakdown is tightly regulated by cytochrome P450 enzymes. One gene in particular, CYP24A1, encodes the enzyme 24-hydroxylase, which degrades active vitamin D into inactive metabolites thereby attenuating its effects on calcium absorption. This gene has been shown to be both upregulated and downregulated in a variety of human disease states and has been a target for pharmacologic intervention in the treatment of disorders like metabolic bone disease, certain types of cancer and rheumatologic conditions. However, our understanding of 24-hydroxylase in calcium and vitamin D metabolism, specifically its primary tissue site of action, is limited by lack of a suitable mouse model of CYP24A1 deficiency. To address this gap in knowledge, our lab has created transgenic inducible mouse models of CYP24A1 deficiency which will allow us to delineate the role of CYP24A1 in mineral homeostasis. As a clinical correlate, I will also identify infants with history of vitamin D toxicity and sequence them for CYP24A1 mutations. Recent studies have shown that mutations in CYP24A1 are more common than we think and might change the way we approach universal vitamin D supplementation in infants.

Marie Mooney, PhD
Funding supported by T32 grant, 2018-2020

Current Position: Assistant Professor of Bioinformatics, University of North Florida

Research: My research focuses on identifying variants in the genome of individuals with developmental disorders. I use computational and mathematical modeling to identify potential interactions between variants that influence the expression and severity of the disease. We verify that these predictions are valid in disease models ranging from cultured cells to genetically modified zebrafish or mice, and then do another round of prediction to identify potential therapeutic interventions, which we can evaluate in the same disease models. Every time we make a prediction, we rely on a lot of assumptions about which biological signals will give us a meaningful result. We know that current approaches are not sufficient to capture all of the biology because sequencing and prediction only identifies disease-driving variation in a subset of patients, or poorly defines the set of phenotypes we observe. Part of the goal is to better understand the functional implications of alterations in individual genomic architectures so that we can make better prediction models.

Bill Hankey, PhD
Funding supported by T32 grant, 2018-2020

Current Position: Senior Biocurator/Research Associate, Department of Genetics, University of North Carolina, Chapel Hill

Research: My research is focused on identifying how normal prostate and prostate cancer cells respond to drugs such as sildenafil (Viagra) and predicting how these drugs might impact patients who are undergoing treatment for prostate cancer or are at risk for developing prostate cancer. This field of study stood out to me because it offered the opportunity to learn more about the genetic basis of cancer in a lab that is at the cutting edge of genomic technologies. These technologies allow researchers to look at thousands of genetic differences between healthy cells and diseased cells and to rapidly identify genetic characteristics that protect patients as well as characteristics that increase their risk. This process provides clues about where to look for the next breakthroughs to improve patient care.

Cory Stingl, MD
Funding supported by T32 Grant, 2017 -2019

Current Position: Attending Physician, Division of Rheumatology, Children's Hospital of Philadelphia

Research: My research is on a group of conditions called the juvenile idiopathic inflammatory myopathies. They are a rare group of autoimmune conditions that affect predominantly the muscles in children but very frequently affect the skin and less frequently other organ systems like the lungs. Compared to other children with autoimmune disease, such as juvenile idiopathic arthritis, they tend to have slower response to treatment, more problems from their condition, and more side effects from exposure to protracted treatment courses with steroids. Our goal is to study whether findings on exams, standard blood tests, autoantibody profiles, and gene expression profiles coupled with machine learning can identify clinically meaningful subgroups that help predict, amongst other things, response to treatment.

Carolyn Baloh, MD
Funding supported by T32 Grant, 2017 -2019

Current Position: Associate Physician, Brigham and Women's Hospital; Instructor in Medicine, Harvard Medical School; Lead Biologist, Immune Tolerance Network (ITN)

Research: My research is entitled “Novel genetic models of common variable immune deficiency (CVID).” CVID is the most common immunodeficiency comprising 30% of all immunodeficiencies. The disease is associated with significant morbidity as patients are prone to recurrent infections, autoimmune disease, and malignancy. The morbidities can also place patients at higher risk of death. To date, we have identified only 10 percent of all genetic mutations associated with this disease. I am working on a project that will involve identifying further genetic defects and then creating mouse models of the defects to better characterize the disease and novel therapies.
Current Position: Advanced Researach Fellow, Duke University

L. Gayani Tillekeratne
Funding supported by the K Award, 2017-2019

Current Position: Assistant Professor of Medicine, Division of Infectious Diseases, Assisant Research Professor, Global Health, Duke University 

Research: I received a career development award through the National Institute of Allergy and Infectious Disease (NIAID) to study the epidemiology of acute respiratory tract infections among patients hospitalized in Sri Lanka. As part of this work, I will be evaluating the performance of host gene expression signatures developed by the CAGPM team to distinguish viral versus bacterial respiratory tract infections. I will determine how well these signatures perform in the Sri Lankan setting, refine the signatures, and validate them along with host biomarkers such as procalcitonin in a prospective cohort of patients with acute respiratory tract infections.