As the director of the Discover Together Biobank at Cincinnati Children’s Hospital Medical Center, I work to provide an ongoing and growing institutional resource of biospecimens, clinical data and genomic data to help further research and increase grant competitiveness for all our researchers. Our end goal is to improve outcomes for our patients and our community.
My early career interest and research in pulmonary arterial hypertension (PAH) led me to working on the National Institutes of Health (NIH)-funded PAH Biobank. Built from scratch, the biobank is the largest consecutively enrolled collection of PAH patient participants in the world. The PAH Biobank is now a widely used resource that has resulted in numerous grants and publications.
My experience building the PAH Biobank led me to my position as director of the Discover Together Biobank. Discover Together actively partners with researchers at Cincinnati Children’s to provide biobanking infrastructure, institutional biospecimens and associated clinical/genetic data. Fostering internal and external collaboration whenever possible, Discover Together accelerates research and builds upon our existing resource for investigators at Cincinnati Children’s. My current research areas of interest include:
Biobanking; biorepository projects; pulmonary arterial hypertension
Human Genetics
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Nature Genetics. 2000; 26:81-84.
Deficiency of the Deubiquitinase UCHL1 Attenuates Pulmonary Arterial Hypertension. Circulation. 2024; 150:302-316.
GENETIC CONTROL OF LYSOSOMAL DYSFUNCTION REPROGRAMS INFLAMMATORY STEROL METABOLISM IN PULMONARY ARTERIAL HYPERTENSION. Journal of the American College of Cardiology. 2024; 83:4600.
Allele-specific control of rodent and human lncRNA KMT2E-AS1 promotes hypoxic endothelial pathology in pulmonary hypertension. Science Translational Medicine. 2024; 16:eadd2029.
Human liver single nuclear RNA sequencing implicates BMPR2, GDF15, arginine, and estrogen in portopulmonary hypertension. Communications Biology. 2023; 6:826.
Abstract 13128: IGFBP8 as a Novel Biomarker for Hemodynamics and Functional Status in Pulmonary Arterial Hypertension. Circulation. 2023; 148:a13128.
Abstract 14112: Reproductive Risk Factors and Pulmonary Arterial Hypertension in Women. Circulation. 2023; 148:a14112.
Abstract 13857: Slit2/ROBO4 Ligand-Receptor Pair as Novel Biomarkers for Survival in Pulmonary Arterial Hypertension. Circulation. 2023; 148:a13857.
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension. Genetics in Medicine. 2023; 25:100925.