Michael W. Pauciulo, MBA

Director, Discover Together Biobank
Assistant Professor, UC Department of Pediatrics

mike.pauciulo@cchmc.org

About

Biography

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
Community cohorts
Pulmonary arterial hypertension

Services and Specialties

Human Genetics

Interests

Biobanking; biorepository projects; pulmonary arterial hypertension

Research Areas

Human Genetics

Publications

Selected

A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium. Machado, RD; Pauciulo, MW; Fretwell, N; Veal, C; Thomson, JR; Vilarino-Guell, C; Aldred, M; Brannon, CA; Trembath, RC; Nichols, WC; Consortium, IP P H. Genomics. 2000; 68:220-228.

Selected

Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. Lane, KB; Machado, RD; Pauciulo, MW; Thomson, JR; Phillips, JA; Loyd, JE; Nichols, WC; Trembath, RC; Consortium, IP P H. Nature Genetics. 2000; 26:81-84.

Lysosomal dysfunction and inflammatory sterol metabolism in pulmonary arterial hypertension. Harvey, LD; Alotaibi, M; Tai, Y; Tang, Y; Kim, HJ; Kelly, NJ; Sun, W; Woodcock, CC; Arshad, S; Culley, MK; Bertero, T; Benza, RL; Jain, M; Chan, SY. Science. 2025; 387:eadn7277.

Studying Rare Movement Disorders: From Whole-Exome Sequencing to New Diagnostic and Therapeutic Approaches in a Modern Genetic Clinic. Marsili, L; Duque, KR; Abanto, J; Chinchihualpa Paredes, NO; Duker, AP; Collins, K; Miranda, M; Bustamante, ML; Pauciulo, M; Dixon, M; Chaib, H; Perez-Maturo, J; Hill, EJ; Espay, AJ; Kauffman, MA. Biomedicines. 2024; 12:2673.

Equivalency of Multiple Biomarkers to Clinical Pulmonary Arterial Hypertension Survival Risk Models. Griffiths, M; Simpson, CE; Yang, J; Vaidya, D; Nies, MK; Brandal, S; Damico, R; Hassoun, P; Ivy, DD; Austin, ED; Benza, RL; Nichols, WC; Manlhiot, C; Everett, AD. Chest. 2024; 166:1511-1531.

Resistin predicts disease severity and survival in patients with pulmonary arterial hypertension. Gao, L; Skinner, J; Nath, T; Lin, Q; Griffiths, M; Damico, RL; Pauciulo, MW; Nichols, WC; Hassoun, PM; Everett, AD; Johns, RA. Respiratory Research. 2024; 25:235.

Abstract 4138731: Clonal Hematopoiesis of Indeterminant Potential is Associated with Pulmonary Arterial Hypertension. Emon, I; Al-Qazazi, R; Rauh, M; Vlasschaert, C; Ott, B; McNaughton, A; Potus, F; Pauciulo, M; Bick, A; Nichols, W; Chung, W; Archer, S. Circulation. 2024; 150:a4138731.

Abstract 4138019: eQTL Analysis of the PAH Biomarker CCN2 Identifies a Novel SNP that Associates with Survival. Byrd, C; Benza, R; Webb, A; Schramm, J; Yang, J; Griffiths, M; Brandal, S; Damico, R; Vaidya, D; Simpson, C; Hassoun, P; Everett, A; Austin, E; Martin, L. Circulation. 2024; 150:a4138019.

Abstract 4140468: Tet Methylcytosine Dioxygenase 2 mutation drives a global hypermethylation signature in patients with pulmonary arterial hypertension resulting in a common T cell phenotype. Hindmarch, C; Potus, F; Al-Qazazi, R; Nichols, W; Pauciulo, M; Rauh, M; Archer, S. Circulation. 2024; 150:a4140468.

Integrative Multiomics in the Lung Reveals a Protective Role of Asporin in Pulmonary Arterial Hypertension. Hong, J; Medzikovic, L; Sun, W; Wong, B; Ruffenach, G; Rhodes, CJ; Brownstein, A; Liang, LL; Aryan, L; Li, M; Geraci, MW; Stearman, RS; Yang, X; Eghbali, M. Circulation. 2024; 150:1268-1287.