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Gholson Lyon

Assistant Professor
M.D., Weill Cornell Medical College, 2004
Ph.D., Rockefeller University, 2003


Contact
glyon@cshl.edu
(516) 422-4126 (p)
  Lyon Lab Website
My group focuses on human genetics and genomic medicine, with an emphasis on diseases with severe neuropsychiatric manifestations.  We collect large family pedigrees and use whole-genome sequencing to define mutations that correlate with the syndromes.  We then undertake detailed functional characterization of these mutations to discover fundamental new biology.

Gholson Lyon’s lab focuses on analyzing human genetic variation and its role in severe neuropsychiatric disorders and rare diseases, including Tourette syndrome, attention-deficit hyperactivity disorder (ADHD), obsessive compulsive disorder (OCD), intellectual disability, autism, and schizophrenia. By recruiting large groups of related individuals living in the same geographic location (e.g., Utah), Lyon’s lab can study the breadth and depth of genetic variants in a similar environmental background. Using the exome—the parts of the genome that code for protein—and whole-genome sequencing, his lab looks for mutations that segregate with syndromes in the various populations. A second focus of the Lyon lab is to study the mechanistic basis of a new rare disease that they described in 2011. This is the first human disease involving a defect in the amino-terminal acetylation of proteins, a common modification of eukaryotic proteins carried out by amino-terminal acetyltransferases (NATs). The team has been using several different cellular model systems to better understand the disease pathophysiology and the basic process of amino-terminal acetylation. This year, Lyon collaborated with a team of researchers from other universities and companies to use precision medicine to successfully treat a patient with severe OCD. His symptoms were treated with deep brain stimulation, and the team used whole-genome sequencing to try to understand the molecular basis of his disease. The patient experienced significant relief from his symptoms and his quality of life returned, suggesting that similar methods may hold tremendous promise in the future.

Doerfel, Max and Lyon, Gholson J. (2015) The biological functions of Naa10 – from amino-terminal acetylation to human disease. Gene

Myklebust, L. M. and Van Damme, P. and Stove, S. I. and Dorfel, M. J. and Abboud, A. and Kalvik, T. V. and Grauffel, C. and Jonckheere, V. and Wu, Y. and Swensen, J. and Kaasa, H. and Liszczak, G. and Marmorstein, R. and Reuter, N. and Lyon, G. J. and Gevaert, K. and Arnesen, T. (2014) Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects. Human Molecular Genetics 24(7) pp. 1956-1976.

O'Rawe, J. and Jiang, T. and Sun, G. and Wu, Y. and Wang, W. and Hu, J. and Bodily, P. and Tian, L. and Hakonarson, H. and Johnson, W. E. and Wei, Z. and Wang, K. and Lyon, G. J. (2013) Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Med 5(3) pp. 28.

Lyon, Gholson J. and Wang, Kai (2012) Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress. Genome Medicine 4(7) pp. 58-58.

Rope, Alan F. and Wang, Kai and Evjenth, Rune and Xing, Jinchuan and Johnston, Jennifer J. and Swensen, Jeffrey J. and Johnson, W. Evan and Moore, Barry and Huff, Chad D. and Bird, Lynne M. and Carey, John C. and Opitz, John M. and Stevens, Cathy A. and Jiang, Tao and Schank, Christa and Fain, Heidi Deborah and Robison, Reid and Dalley, Brian and Chin, Steven and South, Sarah T. and Pysher, Theodore J. and Jorde, Lynn B. and Hakonarson, Hakon and Lillehaug, Johan R. and Biesecker, Leslie G. and Yandell, Mark and Arnesen, Thomas and Lyon, Gholson J. (2011) Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. American Journal of Human Genetics 89(1) pp. 28-43.

Additional materials of the author at
CSHL Institutional Repository