Headshot of a man with medium skin tone and short dark hair wearing light blue dress shirt and purple striped tie under a dark suit jacket against a blurred outdoor background

Xiaowu Gai, PhD

Director of Bioinformatics, Center for Personalized Medicine (CPM)
Professor of Clinical Pathology, Keck School of Medicine of USC

Dr. Xiaowu Gai serves as the Director of Bioinformatics in the Center for Personalized Medicine in the Department of Pathology and Laboratory Medicine at Children's Hospital Los Angeles. He is an Associate Professor of Clinical Pathology at the Keck School of Medicine at the University of Southern California. Dr. Gai's research interests are aimed at understanding human genetic variation at the molecular genetic level and how it is related to human diseases using bioinformatics and genomics methodologies. Prior to joining CHLA, Dr. Gai was the Director of Bioinformatics and Associate Director of the Ocular Genomics Institute in the Department of Ophthalmology at Harvard Medical School & Massachusetts Eye and Ear Infirmary, Boston.


Graduate School

Institute of Genetics, Chinese Academy of Sciences, Beijing (MS)
Iowa State University, Ames, IA (PhD)


Professional Memberships

American Society of Human Genetics
American Society for Phamacology and Experimental Therapeutics
Association for Research in Vision and Ophthalmology


Best Poster Award, Keystone International Symposium on Transposition and Site-Specific Recombination (1997)
Research Excellence Award, Department of Zoology and Genetics, Iowa State University (1999)
Research Excellence Award, Iowa State University (1999)


Navarro-Gomez D, Leipzig J, Shen L, Lott M, Stassen AP, Wallace DC, Wiggs JL, Falk MJ, van Oven M, Gai X. Phy-Mer: a novel alignment-free and reference-independent mitochondrial haplogroup classifier. Bioinformatics. 2015; 31(8):1310-2. PubMed PMID: 25505086

Falk MJ*, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen AP, Diroma MA, Navarro-Gomez D, Yeske P, Bai R, Boles RG, Brilhante V, Ralph D, DaRe JT, Shelton R, Terry SF, Zhang Z, Copeland WC, van Oven M, Prokisch H, Wallace DC, Attimonelli M, Krotoski D, Zuchner S, Gai X*. Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities. Mol Genet Metab. 2014; PMID: 25542617 (*Co-Corresponding Authors)

Gai X*, Ghezzi D*, Johnson MA*, Biagosch CA*, Shamseldin HE*, Haack TB*, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M. Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. Am J Hum Genet. 2013; 93(3):482-95. PubMed PMID: 23993194 (*Co-First Authors)

Falk MJ, Zhang Q, Nakamaru-Ogiso E, Kannabiran C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD, Staniszewska M, Shukla R, Palavalli L, Mohand-Said S, Waseem NH, Jalali S, Perin JC, Place E, Ostrovsky J, Xiao R, Bhattacharya SS, Consugar M, Webster AR, Sahel JA, Moore AT, Berson EL, Liu Q, Gai X*, Pierce EA*. NMNAT1 mutations cause Leber congenital amaurosis. Nat Genet. 2012; 44(9):1040-5. PubMed PMID: 22842227 (*Co-Senior Authors)

Gai X, Xie HM, Perin JC, Takahashi N, Murphy K, Wenocur AS, D'arcy M, O'Hara RJ, Goldmuntz E, Grice DE, Shaikh TH, Hakonarson H, Buxbaum JD, Elia J, White PS. Rare structural variation of synapse and neurotransmission genes in autism. Mol Psychiatry. 2012; 17(4):402-11. PubMed PMID: 21358714


Genetics, bioinformatics, human diseases, genomics, copy number variations, genome variations, mitochondrial variations, biological databases, next generation sequencing (NGS), microarray data analysis, genotyping data analysis, functional and pathway analysis, retrotransposons, biomedical informatics, human microbiome