In progress projects - limited information to share at this time
Geisinger houses the MyCode Community Health Project/DiscovEHR collaboration with Regeneron, providing hundreds of thousands of whole-exome sequences and complete electronic health records for consented participants. This plethora of data enables research at scale. I am currently investigating two aspects of cardiomyopathy: abnormal conduction-induced cardiomyopathy (AC-CM), and truncating variants in the titin gene, TTN. To study cardiomyopathies in the electronic health record (EHR), I am first creating phenotypes that automate and extract individuals with features of AC-CM, a challenging task given the complexity of these conditions, lack of distinct ICD billing codes, and unknown prevalence. Once completed, we'll conduct genotype-phenotype analyses in the aims of identifying rare variants that place certain individuals at risk of developing cardiomyopathy subsequent to a conduction abnormality/arrhythmia.
A watercolor artist's interpretation of the relationship between the human genome and gut mycobiome. Created by my mom and personal volun-told Research Artist, Amy Bean
Microbiomes by definition are vibrant micro-ecosystems that teem with a wide diversity of life, but in the field of the human gut microbiome, much of the focus remains on two-dimensional host-bacterial interactions. My background in soil science shaped an appreciation for the critical role of fungi in environmental systems, and I became curious about how fungi interact with hosts in the gut environment -- also termed the 'gut mycobiome'.
In this project, I queried the fundamental themes of gut mycobiome assembly. I am conducted the first genome-wide association study to determine fungi-associated human genetic variants that may associate with human health and disease. To contextualize gut fungi in evolutionary relationships, I investigated patterns of phylosymbiosis and codivergence of gut fungi, humans, and non-human primates. Uncovering evolutionary and genetic relationships with the human gut mycobiome provides strong evidence that gut fungi assemble deterministically and fundamentally widens the canonical two-dimensional perspective of human gut microbiomes.
Papers in press - coming soon!
Type 2 diabetes (T2D) is rising globally and represents a major health care burden in the United States. T2D is characterized by high blood glucose and dysbiosis in the gut microbiome. The current first-line treatment for T2D is a drug called metformin, which was recently found to lower blood glucose in the host partially by altering the gut bacterial community. Probiotics are another widely used supplement that are hypothesized to lower blood glucose by altering the gut microbiome.
My research investigated the following questions:
Metformin alters the gut bacterial community. How does it affect gut fungi?
Can probiotics and metformin be used together to combat metabolic disease?
These projects blended computational and experimental methods to determine how gut microbes interact with pharmaceutical treatments (metformin and probiotics) in the context of Type 2 diabetes and metabolic disease.