Abstract

Despite extensive large population analysis, genome-wide association studies of diseases with single nucleotide polymorphisms (SNPs) have been disappointing thus far because SNPs account for a small fraction of the genetic risk for disease. We hypothesize that rare genetic variants giving rise to functional mutations may account for susceptibility to certain rheumatic illnesses. Moreover, we propose a strategy to further accelerate decreases in costs of exome sequencing by establishing a high throughput platform to enrich analysis of immune related genes. These sequences will then be analyzed for potential disease causing mutations by computational approaches.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Type
Center Core Grants (P30)
Project #
5P30AR048335-12
Application #
8524164
Study Section
Special Emphasis Panel (ZAR1-MLB (M1))
Project Start
2012-09-01
Project End
2016-08-31
Budget Start
2012-09-01
Budget End
2013-08-31
Support Year
12
Fiscal Year
2012
Total Cost
$69,459
Indirect Cost
$23,757

  Institution

Name
Washington University
Department
Type
DUNS #
068552207
City
Saint Louis
State
MO
Country
United States
Zip Code
63130

  Publications

Paing, May M; Salinas, Nichole D; Adams, Yvonne et al. (2018) Shed EBA-175 mediates red blood cell clustering that enhances malaria parasite growth and enables immune evasion. Elife 7:
Wilke, Georgia; Ravindran, Soumya; Funkhouser-Jones, Lisa et al. (2018) Monoclonal Antibodies to Intracellular Stages of Cryptosporidium parvum Define Life Cycle Progression In Vitro. mSphere 3:
Kulkarni, Hrishikesh S; Elvington, Michelle L; Perng, Yi-Chieh et al. (2018) Intracellular C3 Protects Human Airway Epithelial Cells from Stress-Associated Cell Death. Am J Respir Cell Mol Biol :
Garber, Charise; Vasek, Michael J; Vollmer, Lauren L et al. (2018) Astrocytes decrease adult neurogenesis during virus-induced memory dysfunction via IL-1. Nat Immunol 19:151-161
Yokoyama, Christine C; Baldridge, Megan T; Leung, Daisy W et al. (2018) LysMD3 is a type II membrane protein without an in vivo role in the response to a range of pathogens. J Biol Chem 293:6022-6038
Wu, Xiaobo; Hutson, Irina; Akk, Antonina M et al. (2018) Contribution of Adipose-Derived Factor D/Adipsin to Complement Alternative Pathway Activation: Lessons from Lipodystrophy. J Immunol 200:2786-2797
Kulkarni, Hrishikesh S; Liszewski, M Kathryn; Brody, Steven L et al. (2018) The complement system in the airway epithelium: An overlooked host defense mechanism and therapeutic target? J Allergy Clin Immunol 141:1582-1586.e1
Triebwasser, Michael P; Wu, Xiaobo; Bertram, Paula et al. (2018) Timing and mechanism of conceptus demise in a complement regulatory membrane protein deficient mouse. Am J Reprod Immunol 80:e12997
Roberson, Elisha D O (2018) Motif scraper: a cross-platform, open-source tool for identifying degenerate nucleotide motif matches in FASTA files. Bioinformatics 34:3926-3928
Knoop, Kathryn A; Gustafsson, Jenny K; McDonald, Keely G et al. (2017) Microbial antigen encounter during a preweaning interval is critical for tolerance to gut bacteria. Sci Immunol 2:

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