William C. Nichols, PhD

Associate Director of Research, Division of Human Genetics
Director, National Biological Sample and data Repository for PAH
Professor, UC Department of Pediatrics

bill.nichols@cchmc.org

About

Biography

My primary research focuses on genetic susceptibility to pulmonary hypertension involving both rare and common genetic variation. My colleagues and I utilize both patient and animal model samples to identify variation in the human genome that leads to susceptibility for this rare, destructive and often fatal condition. In addition, I am studying the genetic susceptibility to Parkinson’s disease as a secondary concentration.

The objectives of my lab team and I involve using genetic methods among diseases to bring about patient-specific customized therapies based on genetic variations that different patients may be harboring. We also hope our genetic approaches to studying disease may lead to innovative treatments based on new pathways we find in our research.

Throughout my career, I’ve had the chance to discover multiple novel disease genes, such as familial amyloidotic polyneuropathy, two different genes for combined factors V and VIII deficiency, thrombotic thrombocytopenic purpura, spheroid body myopathy and numerous novel susceptibility genes for pulmonary arterial hypertension.

I have participated in multiple seminal discoveries for genetic susceptibility to Parkinson’s disease. I developed the world’s largest biorepository of clinical information, biological samples and genetic data for patients with pulmonary arterial hypertension. This biorepository is known as the National Biological Sample and Data Repository for Pulmonary Arterial Hypertension (PAH Biobank).

The National Institutes of Health (NIH) and the National Heart, Lung, and Blood Institute (NHLBI) funded this resource for the PAH research community. The biorepository has led to pioneering research focused on biomarkers, genetics and metabolomics in patients with PAH.

I have more than 30 years of experience in genetics and first joined the Cincinnati Children’s team in 1998. My research has been published in numerous respected journals, such as American Journal of Respiratory and Critical Care Medicine, The Lancet Respiratory Medicine, Circulation, Cell, Nature Genetics, and Nature Communications.

Services and Specialties

Interests

Dr. Nichols investigates the genetic susceptibility of pulmonary arterial hypertension. His lab was instrumental in identifying the first gene associated with the disorder. He is director of the NHLBI funded National Biological Sample and Data Repository for PAH, an effort to bank biological samples, clinical and genetic data for 3,000 PAH patients. Genetic analysis of murine pulmonary hypertension and Parkinson disease are also ongoing research interests.

Research Areas

Human Genetics

Publications

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.

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.

Utility of factor D and other alternative complement factors as biomarkers in systemic sclerosis-associated pulmonary arterial hypertension (SSc-PAH). Petrow, E; Feng, C; Frazer-Abel, A; Marangoni, RG; Lutz, K; Nichols, WC; Holers, VM; Ritchlin, C; White, RJ; Korman, BD. Seminars in Arthritis and Rheumatism. 2024; 69:152554.

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.

Genetics and precision genomics approaches to pulmonary hypertension. Austin, ED; Aldred, MA; Alotaibi, M; Gräf, S; Nichols, WC; Trembath, RC; Chung, WK. The European respiratory journal : official journal of the European Society for Clinical Respiratory Physiology. 2024; 64:2401370.

Deficiency of the Deubiquitinase UCHL1 Attenuates Pulmonary Arterial Hypertension. Tang, H; Gupta, A; Morrisroe, SA; Bao, C; Schwantes-An, TH; Gupta, G; Liang, S; Sun, Y; Chu, A; Luo, A; Duarte, JD; Nichols, WC; Garcia, JG N; Desai, AA. Circulation. 2024; 150:302-316.

From the Blog

Heart and Lung

Common Genetic Variant Found for Pulmonary Arterial Hypertension

William C. Nichols, PhD6/30/2019