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.
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.
Awards and Honors to my students
- 2017 Han Fang (co-mentored with Michael Schatz) selected for President’s Award to Distinguished Doctoral Students, Stony Brook University, one of 5 recipients.
- 2016 Jason O’Rawe selected to give Provost Graduate Student lecture at Stony Brook University
- 2016 Graduate student Jason O’Rawe nominated for Regeneron Prize for Creative Innovation. One of two graduate students selected university-wide at Stony Brook for the nomination.
- 2016 AAAS (the American Association for the Advancement of Science)/Science Program for Excellence in Science, to Yiyang Wu
- 2016 Sigma Xi Student Travel Awards, Sigma Xi Scientific Research Society, to Yiyang Wu
- 2016 Featured Poster, the Heart Rhythm Society’s 37th Annual Scientific Sessions. Heart Rhythm Society. San Francisco, CA, for Yiyang Wu
- 2016 Student Travel Grant, CiRA/ISSCR 2016 International Symposium. Kyoto University. Kyoto, Japan, for Yiyang Wu
- 2016 Distinguished Travel Award, Stony Brook University, NY, for Yiyang Wu
- 2015 Summer Institute in Statistics for Big Data Scholarship 2015, to Han Fang
- 2015 Reviewer’s choice – ASHG 2015, to Han Fang, for poster
- 2015 Resource Access Project Award, Stony Brook University, NY, for Yiyang Wu
Newly identified genetic mutation results in intellectual disability and developmental delay
April 12, 2018
Cold Spring Harbor, NY — An international group of researchers led by Cold Spring Harbor Laboratory (CSHL) Assistant Professor Gholson Lyon has identified a new genetic mutation associated with intellectual disability, developmental delay, autism spectrum disorder, abnormal facial features, and congenital cardiac anomalies. The genetic mutation, which can run in families, is related to the...
New method can more precisely determine when a cell has ‘cashed’ RNA ‘checks’ written by active genes
January 26, 2018
Cold Spring Harbor, NY — DNA has often been called “the book of life,” but this popular phrase makes some biologists squirm a bit. True, DNA bears our genes, which spell out the instructions our cells use to make proteins—those workhorse molecules that make just about everything in life possible. But the precise relationship between...
From phages to faces
June 15, 2016
Base Pairs podcast Today, it’s easy to take the power of genetic information for granted. We now commonly encounter DNA testing in our daily lives, whether we’re watching a crime show or visiting a doctor. But it wasn’t all that long ago that scientists were still trying to figure out whether DNA was actually the key...
Discovery of a new X-linked intellectual disability syndrome is aided by web communication tools
December 3, 2015
Cold Spring Harbor, NY — It’s a genetic detective story with a distinct 21st-century flavor. A geneticist from Cold Spring Harbor Laboratory (CSHL) in the United States has used powerful internet and social media tools to find doctors and researchers in nine U.S. states and eight other nations to help him confirm, document and describe in...
A shift in the code: new method reveals hidden genetic landscape
August 18, 2014
Scientists develop algorithm to uncover genomic insertions and deletions involved in autism, OCD Cold Spring Harbor, NY — With three billion letters in the human genome, it seems hard to believe that adding a DNA base here or removing a DNA base there could have much of an effect on our health. In fact, such...
Team demonstrates power of precision medicine in successful treatment of patient with disabling OCD
October 3, 2013
Cold Spring Harbor, NY — A multidisciplinary team led by a geneticist and psychiatrist from Cold Spring Harbor Laboratory’s (CSHL) Stanley Institute for Cognitive Genomics today publish a paper providing a glimpse of both the tremendous power and the current limitations of what is sometimes called “precision medicine.” Precision medicine is an approach to diagnosis...
Dorfel, M. J. and Fang, H. and Crain, J. and Klingener, M. and Weiser, J. and Lyon, G. J. (2017) Proteomic and genomic characterization of a yeast model for Ogden syndrome. Yeast, 34(1) pp. 19-37.
O’Rawe, Jason A and Wu, Yiyang and Dörfel, Max J and Rope, Alan F and Au, P. Y. Billie and Parboosingh, Jillian S and Moon, Sungjin and Kousi, Maria and Kosma, Konstantina and Smith, Christopher S and Tzetis, Maria and Schuette, Jane L and Hufnagel, Robert B and Prada, Carlos E and Martinez, Francisco and Orellana, Carmen and Crain, Jonathan and Caro-Llopis, Alfonso and Oltra, Silvestre and Monfort, Sandra and Jiménez-Barrón, Laura T and Swensen, Jeffrey and Ellingwood, Sara and Smith, Rosemarie and Fang, Han and Ospina, Sandra and Stegmann, Sander and Den Hollander, Nicolette and Mittelman, David and Highnam, Gareth and Robison, Reid and Yang, Edward and Faivre, Laurence and Roubertie, Agathe and Rivière, Jean-Baptiste and Monaghan, Kristin G and Wang, Kai and Davis, Erica E and Katsanis, Nicholas and Kalscheuer, Vera M and Wang, Edith H and Metcalfe, Kay and Kleefstra, Tjitske and Innes, A. Micheil and Kitsiou-Tzeli, Sophia and Rosello, Monica and Keegan, Catherine E and Lyon, Gholson J (2015) TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. The American Journal of Human Genetics, 97(6) pp. 922-932.
Doerfel, Max and Lyon, Gholson J. (2015) The biological functions of Naa10 – from amino-terminal acetylation to human disease. Gene, 567(2) pp. 103-131.
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.
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