A photo of William Nichols.

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



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.


Rare variant analysis of 4241 pulmonary arterial hypertension cases from an international consortium implicates FBLN2, PDGFD, and rare de novo variants in PAH. Zhu, N; Swietlik, EM; Welch, CL; Pauciulo, MW; Hagen, JJ; Zhou, X; Guo, Y; Karten, J; Pandya, D; Tilly, T; et al. Genome Medicine. 2021; 13.

Angiostatic Peptide, Endostatin, Predicts Severity in Pediatric Congenital Heart Disease-Associated Pulmonary Hypertension. Daly, CM; Griffiths, M; Simpson, CE; Yang, J; Damico, RL; Vaidya, RD; Williams, M; Brandal, S; Jone, PN; Polsen, C; et al. Journal of the American Heart Association. 2021; 10.

The angiostatic peptide endostatin enhances mortality risk prediction in pulmonary arterial hypertension. Simpson, CE; Griffiths, M; Yang, J; Nies, MK; Vaidya, RD; Brandal, S; Martin, LJ; Pauciulo, MW; Lutz, KA; Coleman, AW; et al. ERJ Open Research. 2021; 7.

Subthalamic Peak Beta Ratio Is Asymmetric in Glucocerebrosidase Mutation Carriers With Parkinson's Disease: A Pilot Study. David, FJ; Munoz, MJ; Shils, JL; Pauciulo, MW; Hale, PT; Nichols, WC; Afshari, M; Sani, S; Verhagen Metman, L; Corcos, DM; et al. Frontiers in Neurology. 2021; 12.

Mendelian randomisation and experimental medicine approaches to IL-6 as a drug target in PAH. Toshner, M; Church, C; Harbaum, L; Rhodes, C; Villar Moreschi, SS; Liley, J; Jones, R; Arora, A; Batai, K; Desai, AA; et al. European Respiratory Journal, Supplement. 2021.

ST2 Is a Biomarker of Pediatric Pulmonary Arterial Hypertension Severity and Clinical Worsening. Griffiths, M; Yang, J; Nies, M; Damico, RL; Ivy, DD; Martin, W; Nichols, B; Pauciulo, M; Everett, AD. (2021) 160:297-306.

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.

From the Blog

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