Shinya Yamamoto, D.V.M., Ph.D.
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Positions
- Associate Professor
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Department of Molecular & Human Genetics (primary) and Department of Neuroscience (secondary)
Baylor College of Medicine
Houston, Texas United States
- Associate Director
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Genetics & Genomics Graduate Program, Graduate School of Biomedical Sciences, Baylor College of Medicine
- Investigator
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Jan and Dan Duncan Neurological Research Institute (NRI)
Texas Children's Hospital
Houston, Texas United States
- Co-Director, Drosophila Core
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Model Organisms Screening Center (MOSC) for the Undiagnosed Diseases Network (UDN)
- SFARI Investigator
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Simons Foundation Autism Research Initiative (SFARI)
- Co-Chair of Steering and Executive Committees
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Undiagnosed Diseases Network
Addresses
- Jan and Dan Duncan Neurological Research Institute (Office)
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1250 Moursund St.
NRI-1025.12
Houston, TX 77030
United States
Phone: (832) 824-8119
yamamoto@bcm.edu
https://www.yamamotoflylab.org
Education
- BS from University of Tokyo
- 03/2005 - Tokyo, Japan
- DVM from Ministry of Agriculture, Forestry and Fisheries of Japan
- 04/2005 - Tokyo, Japan
- PhD from Baylor College of Medicine
- 03/2012 - Houston, Texas United States
- Post-Doctoral Fellowship at Baylor College of Medicine
- 12/2013 - Houston, Texas United States
Professional Interests
- Integration of Drosophila Genetics and Human Genomics
- New Disease Gene Discovery
- Drosophila Technology and Resource Development
- Cell-Cell Communication in Development and Disease
- Facilitation of the Use of Model Organisms in Human Disease Diagnosis and Research
- Bioinformatic Tool Development
Professional Statement
Many projects in the Yamamoto lab are related to rare and undiagnosed diseases. In fact, >25 million individuals are affected by rare or ultra-rare diseases in the US alone, and many experience a long and winding 'diagnostic odyssey' to try to find out the cause of their disorders. While state-of-the-art sequencing technologies such as whole-exome sequencing (WES) and whole-genome sequencing (WGS) may provide an answer to a subset of these individuals, many are left with a handful of candidate genetic variants that require experimental studies to understand their functional consequences. As a member of the Undiagnosed Diseases Network (UDN) Model Organisms Screening Center (MOSC) and BCM Center for Precision Medicine Models (CPMM), we utilize Drosophila to test whether a genetic variant(s) identified in a patient is the cause of their disease, which is pursued in close collaboration with clinicians and human geneticists across the country and abroad. I am also involved in development of novel computational tools such as MARRVEL and ModelMatcher with bioinformaticians and programmers to facilitate rare disease diagnosis and research.Over the years, my interest has expanded to include more common neurological disorders such as autism spectrum disorders (ASD), Alzheimer's disease, psychiatric diseases, and drug addiction. More recently, we are also developing creative strategies to study infectious diseases such as Zika virus mediated microcephaly and COVID-19, given their socioeconomic importance. In summary, while members of my lab and I work on diverse research topics, all projects are built on a common foundation that harness the 'awesome power of fly genetics'.
Websites
Selected Publications
- Yamamoto S*, Jaiswal M*, Charng WL, Gambin T, Karaca E, Mirzaa G, Wiszniewski W, Sandoval H, Haelterman NA, Xiong B, Zhang K, Bayat V, David G, Li T, Chen K, Gala U, Harel T, Pehlivan D, Penney S, Vissers LE, de Ligt J et al. (* Equal Contribution) "A Drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases." Cell. 2014 Sep 25;159(1):200-214. Pubmed PMID: 25259927
- Yamamoto S, Charng WL, Rana NA, Kakuda S, Jaiswal M, Bayat V, Xiong B, Zhang K, Sandoval H, David G, Wang H, Haltiwanger RS, Bellen HJ "A mutation in EGF repeat-8 of Notch discriminates between Serrate/Jagged and Delta family ligands." Science. 2012 Nov 30;338(6111):1229-32. Pubmed PMID: 23197537
- Bellen HJ, Yamamoto S "Morgan’s legacy: fruit flies and the functional annotation of conserved genes." Cell. 2015 Sep 24;163(1):12-14. Pubmed PMID: 26406362
- Marcogliese PC*, Deal SL*, Andrews J*, Harnish JM*, Bhavana VH, Graves HK, Jangam S, ..., Rosenfeld JA, Marom R, Wangler MF#, Yamamoto S# (*Equal Contribution, #Co-Corresponding Authors) "Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases." Cell Rep. 2022 Mar 15;38(11):110517. Pubmed PMID: 35294868
- Luo X, Schoch K, Jangam SV, Bhavana VH, Graves HK, Kansagra S, Jasien JM, Stong N, Keren B, Mignot C, Ravelli C; Undiagnosed Diseases Network, Bellen HJ, Wangler MF, Shashi V, Yamamoto S "Rare deleterious de novo missense variants in RNF2/RING2 are associated with a neurodevelopmental disorder with unique clinical features." Hum Mol Genet. 2021 Jun 26;30(14):1283-1292. Pubmed PMID: 33864376
- Liu N, Schoch K, Luo X, Pena DML, Bhavana VH, Kukolich MK...Undiagnosed Diseases Network (UDN)...Shashi V#, Yamamoto S#. (# Corresponding Authors) "Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.." Hum Mol Genet. 2018 Jul 15;27(14):2454-2465. Pubmed PMID: 29726930
- Salazar JL, Yang SA, Lin YQ, Li-Kroeger D, Marcogliese PC, Deal SL, Neely GG, Yamamoto S "TM2D genes regulate Notch signaling and neuronal function in Drosophila." PLoS Genet. 2021 Dec 14;17(12):e1009962. Pubmed PMID: 34905536
- Jakobsdottir J*, van der Lee SJ*, Bis JC*, Chouraki V*, Li-Kroeger D*, Yamamoto S*, et al., (*Equal Contribution) "Rare Functional Variant in TM2D3 is Associated with Late-Onset Alzheimer's Disease.." PLoS Genet. 2016 Oct 20;12(10):e1006327. Pubmed PMID: 27764101
- Bellen HJ, Wangler MF, Yamamoto S "The fruit fly at the interface of diagnosis and pathogenic mechanisms of rare and common human diseases." Hum Mol Genet. 2019 Nov 21;28(R2):R207-R214. Pubmed PMID: 31227826
- Yamamoto S, Seto ES "Dopamine Dynamics and Signaling in Drosophila: An Overview of Genes, Drugs and Behavioral Paradigms." Exp Anim. 2014;63(2):107-119. Pubmed PMID: 24770636
- Harnish JM, Link N, Yamamoto S. "Drosophila as a Model for Infectious Diseases." Int J Mol Sci. 2021 Mar 8;22(5):2724. Pubmed PMID: 33800390
- Harnish JM, Li L, Rogic S, Poirier-Morency G, Kim SY; Undiagnosed Diseases Network, Boycott KM, Wangler MF, Bellen HJ, Hieter P, Pavlidis P, Liu Z, Yamamoto S "ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease research." Human Mut. 2022 Jun;43(6):743-759. Pubmed PMID: 35224820
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