Gholson James Lyon, MD PhD
Affiliations: | Genetics | Cold Spring Harbor Laboratory, Cold Spring Harbor, NY |
Area:
biochemistry, genetics, amino-terminal acetylation, Ogden SyndromeWebsite:
http://lyonlab.cshl.edu/Google:
"Gholson Lyon"Bio:
The Lyon laboratory focuses on analyzing human genetic variation and its role in severe neuropsychiatric disorders. We do this by studying large pedigrees living in the same geographic location, where one can study the penetrance and segregation of variants in a similar environmental background and with fewer population stratification concerns. Toward this end, we collect pedigrees in Utah and elsewhere, and then utilize exome and whole genome sequencing to find mutations that segregate with syndromes in the pedigrees. We focus on the discovery of families with rare diseases and/or increased prevalence for syndromes such as Tourette Syndrome, ADHD, obsessive compulsive disorder (OCD), mental retardation, autism and schizophrenia. Proving the biological relevance for newly discovered mutations is the major problem, so having access to research participants and derived tissues will be critically important, hence the need to engage directly with families.
A second focus of the laboratory is to elaborate the mechanistic basis of a new rare disease that we described in 2011. This is the first human disease involving a defect in the N-terminal acetylation of proteins, a common (yet vastly understudied) modification of eukaryotic proteins carried out by N-terminal acetyltransferases (NATs). We are currently calling this new disease Ogden Syndrome, in honor of where the first family resides. We are using several different cellular model systems to better understand the disease pathophysiology and the basic processes of N-terminal acetylation
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Cross-listing: Chemistry Tree
Parents
Sign in to add mentorThomas W. Muir | grad student | 1999-2003 | Rockefeller (Chemistry Tree) | |
Richard Novick | grad student | 1999-2003 | Rockefeller (Chemistry Tree) | |
(Targeting receptor -histidine kinase signaling in Staphylococcus aureus.) | ||||
Barbara Coffey | post-doc | 2007-2009 | NYU School of Medicine (Chemistry Tree) | |
(ongoing) |
Children
Sign in to add traineeMargaret Yoon | research assistant | CSHL (Chemistry Tree) | |
Jonathan Crain | research assistant | 2015- | CSHL (Chemistry Tree) |
Robert Kleyner | research assistant | 2015- | CSHL (Chemistry Tree) |
Ahmed Ismail | research assistant | 2016- | CSHL (Chemistry Tree) |
Alison Sebold | research assistant | 2016- | CSHL (Chemistry Tree) |
Alexandra Solowinska | research assistant | 2016- | CSHL (Chemistry Tree) |
Syndi Barish | research assistant | 2014-2014 | CSHL (Chemistry Tree) |
Thomas Papazyan | research assistant | 2017-2017 | CSHL (Chemistry Tree) |
Laura Jimenez Barron | grad student | CSHL (Chemistry Tree) | |
Jason O'Rawe | grad student | 2012- | CSHL (Computational Biology Tree) |
Yiyang Wu | grad student | 2012- | CSHL (Chemistry Tree) |
Han Fang | grad student | 2013- | CSHL (Chemistry Tree) |
Max Doerfel | post-doc | CSHL |
Publications
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Belbachir N, Wu Y, Shen M, et al. (2023) Studying Long QT Syndrome Caused by Genetic Variants Using Patient-Derived Induced Pluripotent Stem Cells. Circulation. 148: 1598-1601 |
Kleyner R, Ung N, Mohammad A, et al. (2023) ITPR1-Associated Spinocerebellar Ataxia with Craniofacial Features - Additional Evidence for Germline Mosaicism. Cold Spring Harbor Molecular Case Studies |
Dingemans AJM, Hinne M, Truijen KMG, et al. (2023) PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework. Nature Genetics |
Kierzkowska O, Sarino K, Carter D, et al. (2023) Documentation and prevalence of prenatal and neonatal outcomes in a cohort of individuals with KBG syndrome. American Journal of Medical Genetics. Part A |
Lyon GJ, Vedaie M, Beisheim T, et al. (2023) Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome. European Journal of Human Genetics : Ejhg |
Guo L, Park J, Yi E, et al. (2022) KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients. European Journal of Human Genetics : Ejhg |
Danis D, Jacobsen JOB, Balachandran P, et al. (2022) SvAnna: efficient and accurate pathogenicity prediction of coding and regulatory structural variants in long-read genome sequencing. Genome Medicine. 14: 44 |
Kleyner R, Mohammad A, Marchi E, et al. (2021) Autosomal recessive SLC30A9 variants in a Proband with a Cerebro-Renal Syndrome and No Parental Consanguinity. Cold Spring Harbor Molecular Case Studies |
Kweon HY, Lee MN, Dorfel M, et al. (2021) compensates for in mice in the amino-terminal acetylation pathway. Elife. 10 |
Tsetsos F, Yu D, Sul JH, et al. (2021) Synaptic processes and immune-related pathways implicated in Tourette syndrome. Translational Psychiatry. 11: 56 |