A photo of William Nichols.

Associate Director of Research, Division of Human Genetics

Director, National Biological Sample and data Repository for PAH

Professor, UC Department of Pediatrics


Biography & Affiliation


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.

Research 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.

Academic Affiliation

Professor, UC Department of Pediatrics

Research Divisions

Human Genetics

Blog Posts

Common Genetic Variant Found for Pulmonary Arterial Hypertension

Heart and Lung

Common Genetic Variant Found for Pulmonary Arterial Hypertension

William C. Nichols, PhD6/30/2019


PhD: Department of Medical Genetics, Indiana University, Indianapolis, IN, 1983-89; Associate, Howard Hughes Medical Institute, Ann Arbor, MI, 1989-91.

Research Fellow: Department of Internal Medicine, University of Michigan, Ann Arbor, MI, 1991-92.

Research Investigator: Department of Internal Medicine, University of Michigan, Ann Arbor, MI, 1992-1998.


NHLBI-CMREF Workshop Report on Pulmonary Vascular Disease Classification: JACC State-of-the-Art Review. Oldham, WM; Hemnes, AR; Aldred, MA; Barnard, J; Brittain, EL; Chan, SY; Cheng, F; Cho, MH; Desai, AA; Garcia, JG N; et al. Journal of the American College of Cardiology. 2021; 77:2040-2052.

Cognitive Functioning of Glucocerebrosidase (GBA) Non-manifesting Carriers. Moran, EE; Bressman, SB; Ortega, RA; Raymond, D; Nichols, WC; Palmese, CA; Elango, S; Swan, M; Shanker, V; Perera, I; et al. Frontiers in Neurology. 2021; 12.

United States Pulmonary Hypertension Scientific Registry: Baseline Characteristics. Badlam, JB; Badesch, DB; Austin, ED; Benza, RL; Chung, WK; Farber, HW; Feldkircher, K; Frost, AE; Poms, AD; Lutz, KA; et al. Chest. 2021; 159:311-327.

Bayesian Inference Associates Rare KDR Variants with Specific Phenotypes in Pulmonary Arterial Hypertension. Swietlik, EM; Greene, D; Zhu, N; Megy, K; Cogliano, M; Rajaram, S; Pandya, D; Tilly, T; Lutz, KA; Welch, CC L; et al. Circulation: Genomic and Precision Medicine. 2021.

Pediatric pulmonary hypertension: insulin-like growth factor-binding protein 2 is a novel marker associated with disease severity and survival. Griffiths, M; Yang, J; Nies, M; Vaidya, D; Brandal, S; Williams, M; Matsui, EC; Grant, T; Damico, R; Ivy, D; et al. Pediatric Research. 2020; 88:850-856.

Insulin-like growth factor binding protein-2: a new circulating indicator of pulmonary arterial hypertension severity and survival. Yang, J; Griffiths, M; Nies, MK; Brandal, S; Damico, R; Vaidya, D; Tao, X; Simpson, CE; Kolb, TM; Mathai, SC; et al. BMC Medicine. 2020; 18.

Whole-Blood RNA Profiles Associated with Pulmonary Arterial Hypertension and Clinical Outcome. Rhodes, CJ; Otero-Nunez, P; Wharton, J; Swietlik, EM; Kariotis, S; Harbaum, L; Dunning, MJ; Elinoff, JM; Errington, N; Thompson, AA R; et al. American Journal of Respiratory and Critical Care Medicine. 2020; 202:586-594.

Elevated Interleukin-6 Levels Predict Clinical Worsening in Pediatric Pulmonary Arterial Hypertension. Chen, JY; Griffiths, M; Yang, J; Nies, MK; Damico, RL; Simpson, CE; Vaidya, RD; Brandal, S; Ivy, DD; Austin, ED; et al. Journal of Pediatrics. 2020; 223:164-169.e1.

A novel BMPR2 mutation with widely disparate heritable pulmonary arterial hypertension clinical phenotype. Oriaku, I; LeSieur, MN; Nichols, WC; Barrios, R; Elliott, CG; Frost, A. Pulmonary Circulation. 2020; 10.

Novel Mutations and Decreased Expression of the Epigenetic Regulator TET2 in Pulmonary Arterial Hypertension. Potus, F; Pauciulo, MW; Cook, EK; Zhu, N; Hsieh, A; Welch, CL; Shen, Y; Tian, L; Lima, P; Mewburn, J; et al. Circulation. 2020; 141:1986-2000.