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NameEmailPhD ProgramResearch InterestPublications
Haendel, Melissa
WEBSITE
EMAIL
PUBLICATIONS

PHD PROGRAM
Bioinformatics & Computational Biology, Genetics & Molecular Biology

RESEARCH INTEREST
Bioinformatics, Developmental Biology, Developmental Disorders, Genetic Basis of Disease, Genetics, Human Subjects Research, Molecular Mechanisms of Disease, Translational Medicine

The Translational and Integrative Sciences Laboratory (TISLab) aims to weave together healthcare systems, basic science research, and patient generated data through development of data integration technologies and innovative data capture strategies. Our research focuses on the development of semantic technologies for data harmonization and analytics, such as ontologies, knowledge graphs, and data models. We leverage these semantic resources to standardize phenotypic information coming from clinical encounters, model and veterinary species, and directly from patients.

As part of a longstanding international consortium called the Monarch Initiative, we utilize structured phenotype data to integrate of genotype-phenotype data across species to improve rare disease diagnosis, mechanism discovery, and to identify treatments. We work with a number of rare disease communities around the world with the goal of making our data standards available for everyone and translated into different languages so that everyone can have access to the same knowledge and have the same chance for a diagnosis.

We are passionate about environmental health and understanding new ways of making environmental and nutrition data computable alongside clinical data. For example, we have integrated patient nutrition survey data together with basic research knowledge to reveal dietary risk factors of women’s reproductive disorders. We recently obtained funding to create an atlas for toxicological experiments and phenotypic outcomes in the zebrafish. TISLab has also recently created a veterinary One Health program, which focuses on understanding health influences affecting veterinary species together with their pet parents.

During Covid, we led a national initiative to harmonize Electronic Health Record data to aid discovery analytics, called the National Covid Cohort Collaborative (N3C). The N3C is now the largest publicly available HIPAA-limited dataset in US history, and has ~5,000 users. We have studied long-Covid, advised the White House and governor’s offices, and have won the NIH/FASEB DataWorks! Grand prize for our work on N3C. We also lead the Center for Linkage and Aquisition of Data (CLAD) for the All of Us Research Program. The CLAD aims to link passive data streams such as insurance claims, mortality, and environmental data to program participants to provide a more comprehensive picture of their health trajectories.

We have produced several global standards, such as the Human Phenotype Ontology, Phenopackets (Global Alliance for Genomics and Health and ISO certified), Mondo, and LinkML. We regularly attend the American Medical Informatics Association, the American Association of Human Genetics, the International Biocuration Society, and the Bioinformatics Open Source at ISMB conferences. TISLab members come from a wide variety of of scientific backgrounds and interests, making us effective partners in translational science and collaborative analytics.

Sparkenbaugh, Erica
WEBSITE
EMAIL
PUBLICATIONS

PHD PROGRAM
Pathobiology & Translational Science

RESEARCH INTEREST
Cell Signaling, Genetic Basis of Disease, Hematology, Immunology, Molecular Mechanisms of Disease

The broad goal in my laboratory is to investigate crosstalk between coagulation and inflammation in animal models of disease. My primary interest is sickle cell disease, a blood disorder caused by a hemoglobin mutation that results in sickling of red blood cells. The primary complications of sickle cell disease are anemia and vaso-occlusive crisis (VOC), as well as chronic inflammation and coagulation activation. VOC is caused by the formation of multicellular aggregates between neutrophils, platelets, sickle red blood cells and the endothelium that is due, in part, to thrombin-dependent activation of protease activated receptor 1 (PAR-1). We are currently investigating how biased agonism of PAR1 with activated protein C (APC) can beneficially influence vaso-occlusive crisis and other pathologies in sickle cell disease. We use a variety of tools, such as transgenic mice, clinically relevant pharmacologic inhibitors, and molecular and cellular biology techniques to study the role of coagulation proteases and protease activated receptors in health and disease.

Martin, Carmen

EMAIL

PHD PROGRAM

RESEARCH INTEREST
Bioinformatics, Computational Biology, Gene Therapy, Genetic Basis of Disease, Genomics

“Research the relationship between genetic variation and genetic disease with different computational tools. Understanding the genetic basis of the disease and how the variations can be manipulated to find areas for gene therapy and increase human health.”

Edwards, Whitney

EMAIL
PUBLICATIONS

PHD PROGRAM
Cell Biology & Physiology

RESEARCH INTEREST
Cardiovascular Biology, Cardiovascular Disease, Cell Biology, Cell Signaling, Developmental Biology, Developmental Disorders, Disease, Genetic Basis of Disease, Metabolism, Molecular Biology, Molecular Mechanisms of Disease

Our lab aims to identify the fundamental molecular mechanisms underlying heart development and congenital heart disease. Our multifaceted approach includes primary cardiac cell culture, genetic mouse models, biochemical/molecular studies, and transcriptomics. Additionally, we employ proteomics-based methods to investigate 1) protein expression dynamics, 2) protein interaction networks, and 3) post-translational modifications (PTMs) in heart development. Current research projects focus on investigating the function of two essential PTMs in cardiogenesis: protein prenylation and palmitoylation.