Email

yamamoto@bcm.edu

Positions

Assistant Professor

Department of Molecular & Human Genetics (primary) and Department of Neuroscience (secondary)
Baylor College of Medicine
Houston, Texas United States

Associate Director

Genetics & Genomics Graduate Program, Graduate School of Biomedical Sciences, Baylor College of Medicine

Investigator

Jan and Dan Duncan Neurological Research Institute (NRI)
Texas Children's Hospital
Houston, Texas United States

Co-Director, Drosophila Core

Model Organisms Screening Center (MOSC) for the Undiagnosed Diseases Network (UDN)

SFARI Investigator

Simons Foundation Autism Research Initiative (SFARI)

Addresses

Jan and Dan Duncan Neurological Research Institute (Office)

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'. Many projects in the Yamamoto lab are related to rare and undiagnosed diseases. In fact, over 25 million individuals (about the population of Texas) are affected by rare or ultra-rare diseases in the U.S. alone (>300 million worldwide), and many experience a long and winding 'diagnostic odyssey' to try to find out the cause of their disorders. While state-of-the-art genomic technologies such as whole-exome sequencing (WES) and whole-genome sequencing (WGS) may provide answers to a subset of these individuals, many are often left with a handful of candidate genetic variants that require experimental studies to understand their functional consequences. As a co-director/leader and member of the Model Organisms Screening Center (MOSC) of the Undiagnosed Diseases Network (UDN) and Baylor College of Medicine (BCM) Center for Precision Medicine Models (CPMM), my lab utilizes Drosophila to test whether a genetic variant 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 the development of novel computational tools such as MARRVEL (http://marrvel.org) and ModelMatcher (https://www.modelmatcher.net) with bioinformaticians and programmers at BCM to facilitate rare disease diagnosis, research and collaborations.

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 harnesses 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