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Jennifer Posey

Jennifer Posey

Assistant Professor
I am an Assistant Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine. My research interests lie in the relationship between genomic variation and clinical (phenotypic) expression and how this can be leveraged to develop individualized treatment approaches. I lead the Baylor College of Medicine Genomic Research to Elucidate the Genetics of Rare (BCM-GREGoR) research program, which seeks to identify molecular diagnoses for rare disease individuals and families for whom routine clinical testing has not been diagnostic.

I also work with the Rare and Atypical DIAbetes NeTwork (RADIANT) consortium, which seeks to identify and characterize novel forms of atypical diabetes. As a chair of the RADIANT Geneticists Team and co-chair of the RADIANT Discovery Team, I have led the development of the Consortium's workflows to integrate clinical phenotyping data, genome sequencing data, transcriptomic data, and metabolomic data to inform discovery.

As a physician scientist and a medical and human geneticist, my ultimate goal is to be able to translate our understanding of the relationship between an individual's genotype and phenotype, or disease trait, into actionable and treatable information in the clinic. Work in the Posey Laboratory centers around the elucidation of the complex relationships between genotypes and human disease phenotypes, with a focus on the identification and study of genes and associated phenotypic traits that break from the 'one-gene-one-disease' paradigm.