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COVID-19 Research Survey
COVID-19 Research Survey

Leveraging their large database of exome sequenced, research-consented individuals, Helix’s research team set out to perform a longitudinal survey to collect data about potential COVID-19 symptoms, duration, and confounding variables. To do this, the team needed a mechanism for distributing the survey as well as survey findings to research participants. Throughout the study, I’ve helped create blogs and emails to encourage participation in the survey, and have helped maintain data organization. Survey and de-identified genetic data have been contributed to the Host Genomics Initiative and has been used in several research projects. Below is a list of articles that our data contributed to.

Revealing variants in SARS-CoV-2 interaction domain of ACE2 and loss of function intolerance through analysis of >200,000 exomes
Revealing variants in SARS-CoV-2 interaction domain of ACE2 and loss of function intolerance through analysis of >200,000 exomes

Our researchers took a look at a sequence of DNA known as the ACE2 gene. This gene is most well known for its role in regulating blood pressure. But in recent times, it’s drawn a lot of attention from the scientific community because it may also serve as a doorway of sorts, enabling viruses like SARS-CoV-2 to infect cells. Our researchers looked at the ACE2 gene in more than 200,000 people, comparing their exact DNA sequences to see where there are differences among people.

Genetic counseling, 2030: An on-demand service tailored to the needs of a price conscious, genetically literate, and busy world.
Genetic counseling, 2030: An on-demand service tailored to the needs of a price conscious, genetically literate, and busy world.

Building from trends that are currently taking shape, this article looks just over a decade into the future—to 2030—to provide a description of how the field of genetics and genetic counseling will be changed, as well as advice for genetic counselors for how to prepare. 

Ph.D. Research

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The Protein Tyrosine Phosphatase Activity of Eyes Absent Contributes to Tumor Angiogenesis and Tumor Growth.
The Protein Tyrosine Phosphatase Activity of Eyes Absent Contributes to Tumor Angiogenesis and Tumor Growth.

Here, we use genetic and chemical biology approaches to separately query the roles of host vascular endothelial cell and tumor cell EYA in tumor growth. 

Modeling tumor cell adaptations to hypoxia in multicellular tumor spheroids
Modeling tumor cell adaptations to hypoxia in multicellular tumor spheroids

Here we will review what is known about cell proliferation, DNA damage repair, and metabolic pathways as modeled in multicellular tumor spheroids in comparison to observations made in solid tumors. A more precise definition of the cell populations present within 3D tumor models in vitro could better inform our understanding of the heterogeneity within tumors as well as provide a more representative platform for the testing of therapeutic strategies.

Linking hypoxia, DNA damage and proliferation in multicellular tumor spheroids
Linking hypoxia, DNA damage and proliferation in multicellular tumor spheroids

Tumor spheroids mimic tumor microenvironments such as the anoxic, hypoxic and oxic niches within solid tumors, as well as populations of cells that are viable, proliferating, and undergoing DNA damage repair processes under these different micro-environmental conditions. ATM, but not ATR, is the primary kinase responsible for γ-H2AX formation in the hypoxic core of A673 spheroids. Spheroids could offer unique advantages in testing therapeutics designed to target malignant cells that evade conventional treatment strategies by adapting to the hypoxic tumor microenvironment.

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