Jasmine Mack

Graduate Trainee, National Institute of Environmental Health Sciences (NIH - NIEHS)

2 active projects

Autoimmune Diseases and Cardiometabolic Disorders of Pregnancy

The United States is currently experiencing a maternal health crisis, where the maternal mortality ratio is significantly higher for the United States compared to similarly developed countries, such as Canada, UK, and Australia. While reproductive related traits and autoimmune diseases…

Scientific Questions Being Studied

The United States is currently experiencing a maternal health crisis, where the maternal mortality ratio is significantly higher for the United States compared to similarly developed countries, such as Canada, UK, and Australia. While reproductive related traits and autoimmune diseases (AiDs) in women have been understudied, leveraging the intersection of clinical, genetic, and environmental factors are relevant in addressing disparities in pregnancy outcomes and complications of AiDs later in life from a holistic perspective. The research objective is to implement an integrated analytic framework to characterize shared genetic and environmental factors between autoimmune diseases (AiDs) and adverse pregnancy outcomes (APOs) in efforts to elucidate how immune changes in pregnancy are related to the development of AiDs.

Project Purpose(s)

  • Disease Focused Research (Autoimmune diseases, Adverse Pregnancy Outcomes)
  • Population Health
  • Ancestry

Scientific Approaches

In addition to the All Of Us cohort, we intend to utilize the Personalized Environment and Genes Study (PEGS) cohort, and the UK Biobank for cohort discovery in order to study AiDs and APOs. We will determine any shared genetic architecture and shared environmental exposures between AiDs and APOs. This will involve performing multi-ancestral genome-wide association studies and exposome-wide association analyses. We plan to utilize genetic scores to further estimate correlation between conditions. We are also interested in assessing the development of postpartum AiDs, comparing trajectories of those who experience APOs and those who do not experience an APO.

Anticipated Findings

The hypothesized findings will advance our understanding of the genetic basis of APOs and AiDs and ideally would lead to the identification of novel therapeutic targets and risk assessment tools to prevent further disease development.

Demographic Categories of Interest

  • Race / Ethnicity
  • Others

Data Set Used

Controlled Tier

Research Team

Owner:

  • Jasmine Mack - Graduate Trainee, National Institute of Environmental Health Sciences (NIH - NIEHS)

v7-Contributions to Hypertensive Disorders in Pregnancy

Broadly, this project is driven by the maternal health crisis in the United States, focused on dissecting the etiology of hypertensive disorders in pregnancy, from genome to exposome, and the interaction between the aforementioned. This data would be used in…

Scientific Questions Being Studied

Broadly, this project is driven by the maternal health crisis in the United States, focused on dissecting the etiology of hypertensive disorders in pregnancy, from genome to exposome, and the interaction between the aforementioned. This data would be used in a larger study of various cohorts to further understand the development of adverse pregnancy outcomes (APOs) and other reproductive health traits. We intend to perform replication/validation studies based on the All Of Us cohort. In bridging genotypes, physiology, and disease through an integrated analytical framework that is inclusive of diverse ancestral populations, we hope to study the synergistic relationship between genetics, environmental exposures, and social determinants of health. We hypothesize that leveraging this data integration approach for application to maternal and child health research will yield more power for discovery and enable the analysis of the complex interactions between genetics and the environment.

Project Purpose(s)

  • Disease Focused Research (Hypertensive Disorders in Pregnancy)
  • Population Health
  • Methods Development
  • Ancestry

Scientific Approaches

We will perform genome-wide association studies (GWAS) across distinct cohorts and curate GWAS summary statistics for APOs to compare multi-ancestry methods for association testing. Phenome-wide association analyses will also be considered. Other cohorts include the Personalized Environment and Genes Study (PEGS) cohort and the UK Biobank. Fine mapping, Mendelian randomization, transcriptomic-wide association studies, and pathway enrichment analyses will be utilized post-GWAS for functional annotation and mapping. Complementing GWAS with these methods will increase understanding of how risk factors, and their variation, lead to the development of APOs in addition to assessing variation by ancestry. Beyond gene association studies, genetic correlation between phenotypes, by computing polygenic scores will be performed, including comparing these scores to other cardiometabolic traits not related to pregnancy.

Anticipated Findings

We anticipate demonstrating replicability of genetic discovery related to APOs in addition to distinct biological pathways that may give more insight into the development of APOs. We intend to also identify environmental exposures that are candidates for testing gene-environment interactions. Ideally, we will be able to assess how the environment influences genetic risk of APOs.

There has been limited improvement in the prevalence of adverse pregnancy outcomes. We hope this work will contribute novel findings that can further be applied to improve the screening and prediction of APOs in pregnant people in a robust fashion, ultimately targeting future interventions for disease prevention.

Demographic Categories of Interest

  • Race / Ethnicity

Data Set Used

Controlled Tier

Research Team

Owner:

  • Jasmine Mack - Graduate Trainee, National Institute of Environmental Health Sciences (NIH - NIEHS)
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