William C. Nichols, PhD

Interim Co-Director, Division of Human Genetics

Director, National Biological Sample and Data Repository for PAH

Associate Director of Research, Human Genetics

Professor, UC Department of Pediatrics

Phone 513-636-4717

Email bill.nichols@cchmc.org

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.
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.

Nalls M, Duran R, Lopez G, Kurzawa-Akanbi M, McKeith I, Chinnery P, Morris C, Theuns J, Crosiers D, Cras P, Engelborghs S, De Deyn P, Van Broeckhoven C, Mann D, Snowden J, Pickering-Brown S, Halliwell N, Davidson Y, Gibbons L, Harris J, Sheerin U, Bras J, Hardy J, Clark L, Marder K, Honig L, Berg D, Maetzler W, Brockmann K, Gasser T, Novelino F, Quattrone A, Annesi G, De Marco E, Rogaeva E, Masellis M, Black S, Bilbao J, Foroud T, Ghetti B, Nichols W, Pankratz N, Halliday G, Lesage S, Klebe S, Durr A, Duyckaerts C, Brice A, Giasson B, Trojanowski J, Hurtig H, Tayebi N, Landazabal C, Knight M, Keller M, Singleton A, Wolfsberg T, Sidransky E. A multicenter study of glucocerebrosidase mutations in dementia with lewy bodies. JAMA Neurol. 2013;70:727-735.

Mushaben EM, Hershey GK, Pauciulo MW, Nichols WC, Le Cras TD. Chronic allergic inflammation causes vascular remodeling and pulmonary hypertension in BMPR2 hypomorph and wild-type micePLoS ONE. 2012;6:e32468.

Chartier-Harlin MC, Dachsel JC, Vilariño-Güell C, Lincoln SJ, Leprêtre F, Hulihan MM, Kachergus J, Milnerwood AJ, Tapia L, Song MS, Le Rhun E, Mutez E, Larvor L, Duflot A, Vanbesien-Mailliot C, Kreisler A, Ross OA, Nishioka K, Soto-Ortolaza AI, Cobb SA, Melrose HL, Behrouz B, Keeling BH, Bacon JA, Hentati E, Williams L, Yanagiya A, Sonenberg N, Lockhart PJ, Zubair AC, Uitti RJ, Aasly JO, Krygowska-Wajs A, Opala G, Wszolek ZK, Frigerio R, Maraganore DM, Gosal D, Lynch T, Hutchinson M, Bentivoglio AR, Valente EM, Nichols WC, Pankratz N, Foroud T, Gibson RA, Hentati F, Dickson DW, Destée A, Farrer MJ. Translation initiator EIF4G1 mutations in familial Parkinson diseaseAm J Hum Genet. 2011; 89:398-406.

Latourelle JC, Pankratz N, Dumitriu A, Wilk JB, Goldwurm S, Pezzoli G, Mariani CB, DeStefano AL, Halter C, Gusella JF, Nichols WC, Myers RH, Foroud T, PROGENI Investigators, Coordinators, and Molecular Genetic Laboratories, GenePD Investigators, Coordinators, and Molecular Genetic Laboratories. Genomewide association study for onset age in Parkinson Disease. BMC Med Genet. 2009;10:98.

Nichols WC, Pankratz N, Hernandez D, Paisán-Ruíz C, Jain S, Halter CA, Michaels VE, Reed T, Rudolph A, Shults CW, et al. Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet. 2005;365:410-412.

Zhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, McVey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, et al. Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. Nat Genet. 2003;34:220-225.

Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C, Conneally PM, Foroud T. Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations. Am J Hum Genet. 2002;71:124-135.

Levy GG, Nichols WC, Lian EC, Foroud T, McClintick JN, McGee BM, Yang AY, Siemieniak DR, Stark KR, Gruppo R, et al. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature. 2001;413:488-494.

Lane KB, Machado RD, Pauciulo MW, Thomson JR, Phillips JA 3rd, Loyd JE, Nichols WC, Trembath RC. Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension. The International PPH Consortium. Nat Genet. 2000;26:81-84.

Nichols WC, Seligsohn U, Zivelin A, Terry VH, Hertel CE, Wheatley MA, Moussalli MJ, Hauri HP, Ciavarella N, Kaufman RJ, et al. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell. 1998;93:61-70.

Genetic Analysis of Murine Chronic Hypoxia-Induced Pulmonary Hypertension. Principle Investigator. NIH/NHLBI. April 2010-March 2015. 5 R01 HL102107-04.

Genetic Analysis of Murine Chronic Hypoxia-Induced Pulmonary Hypertension. Principle Investigator. April 2010-March 2015. 3 R01 HL102107-04S1.

National Biological Sample and Data Repository for Pulmonary Arterial Hypertension. National Institutes of Health (NIH) /National Heart, Lung and Blood Institute (NHLBI). March 2012-Feb 2017. R24 HL10533.