Shinya Yamamoto, D.V.M., Ph.D.
Assistant Professor, Department of Molecular and Human Genetics (primary) and Department of Neuroscience (secondary), Baylor College of Medicine
Associate Director, Genetics & Genomics Graduate Program, Graduate School of Biomedical Sciences, Baylor College of Medicine
Investigator, Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital
Co-Director, Drosophila Core, Model Organisms Screening Center (MOSC) for the Undiagnosed Diseases Network (UDN)
SFARI Investigator, Simons Foundation Autism Research Initiative (SFARI)
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. We are 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 lab's 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'.
1) Yamamoto S*, Jaiswal M*, Charng W-L, 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 LELM, de Ligt J, Jhangiani S, Xie Y, Tsang SH, Parman Y, Sivaci M, Battaloglu E, Muzny D, Wan Y-W, Liu Z, Lin-Moore AT, Clark RD, Curry CJ, Schulze KL, Boerwinkle E, Dobyns WB, Allikmets R, Gibbs RA, Chen R, Lupski JR, Wangler MF, Bellen HJ (2014) A Drosophila genetic resource to study human disease genes and its use for gene discovery in human exome data. (*equal contribution). Cell, In press (September 25 issue).
2) Haelterman NA, Jiang L, Li Y, Bayat V, Sandoval H, Ugur B, Tan KL, Zhang K, Bei D, Xiong B, Charng W-L, Busby T, Jawaid A, David G, Jaiswal M, Venken KJT, Yamamoto S, Chen R, Bellen HJ (2014) Large-scale identification of chemically induced mutations in Drosophila melanogaster. Genome Research, In press.
3) Yamamoto S, Schulze KL, Bellen HJ (2014) Chapter 1: Introduction to Notch signaling. Methods in Molecular Biology: Notch Signaling, ed. Yamamoto S, Bellen HJ.
4) Wang S, Tan KL, Agosto MA, Xiong B, Yamamoto S, Sandoval H, Jaiswal M, Bayat V, Zhang K, Charng W-L, David G, Duraine L, Venkatachalam K, Wensel TG, Bellen HJ (2014) The retromer complex is required for rhodopsin recycling and its loss leads to photoreceptor degeneration. PLoS Biology, 12(4):e1001847.
5) Yamamoto S†, Seto ES (2014) Dopamine dynamics and signaling in Drosophila: an overview of genes, drugs and behavioral paradigms. Experimental Animals, 63(2):107-19. (†corresponding author) (Figure 1 was used as the cover image of this issue of the journal.).
6) CharngW-L, Yamamoto S, Bellen HJ (2014) Shared mechanisms between Drosophila peripheral nervous system development and human neurodegenerative diseases. Current Opinion in Neurobiology, 27:158-164.
7) Charng W.-L, Yamamoto S, Jaiswal M, Bayat V, Xiong B, Zhang K, Sandoval H, David G, Gibbs S, Lu H.-C, Chen K, Giagtzoglou N, Bellen HJ (2014) Drosophila Tempura, a novel protein prenyltransferase-alpha subunit, regulates Notch signaling via Rab1 and Rab11. PLoS Biology, 12(1): e1001777.
8) Yamamoto S, Bayat B, Bellen HJ, Tan C (2013) Protein Phosphatase 1ß limits ring canal constriction during Drosophila germline cyst formation. PLoS One, 8(7):e70502.
9) Giagtzoglou N, Li T, Yamamoto S, Bellen HJ (2013) dEHBP1 regulates Scabrous secretion during Notch mediated lateral inhibition. Journal of Cell Science, 126(Pt 16):3686-96.
10) Zhang K, Li Z, Jaiswal M, Bayat V, Xiong B, Sandoval H, Charng W-L, David D, Haueter C, Graham BH, Yamamoto S, Bellen HJ (2013) A complex of Sicily, the Drosophila homolog of Corf38, and Hsp90 binds and chaperones mitochondrial complex I subunits. Journal of Cell Biology, 200(6):807-20.