Funding

R01 AR073228 (Kottyan/Waggoner/Weirauch, MPI)
04/01/19 – 3/30/24
NIH/NIAMS Role: Co-PI
Transcription Factor Genetics in Lupus

We will assess the immediate impact of risk variants that are located within IRF7 and bound in a genotype-dependent way by SPI1/PU.1 on gene expression and the development of a mouse model of lupus.


R01 DK107502 (Kottyan)09/01/16 – 08/31/21
NIH/NIDDK
Mechanisms of genetic risk at 2p23 for Eosinophilic Esophagitis

Dr. Kottyan has proposed to lead a project in CAGE in collaboration with the Department of Allergy and Immunology to perform laboratory-based experiments and computational analyses to understanding of the functional genomic (Aim 1), biochemical (Aim 2), inflammatory (Aim 2), and interactive mechanisms (Aim 3) that increase risk of EoE through 2p23 and calpain-14.


P30 AR070549 (Thompson)
08/01/16 – 07/31/21
NIH/NIAMS Role: Core Leader, Functional Genomics Core ($67,940)
“Cincinnati Rheumatic Diseases Resource Center”

The goal of this project is to provide analysis (genetic association) and experimental support (electrophoretic mobility shift assay (EMAS), DNA affinity precipitation assay (DAPA), etc.) and experimental design support for the research community of the P30.


Center for Pediatric Genomics
07/01/19 - 06/30/19
Cincinnati Children’s Hospital Medical Center
Targeting Transcriptional Dysregulation in Atopic Dermatitis

In this pilot project, we will use Massively Parallele Reporter Assays to identify genotype-dependent enhancer activity at atopic dermatitis risk variants in disease relevant cells. Various strategies are used to modulate this genotype-dependent behavior with the goal of identifying novel therapeutic opportunities that are optimally efficacious in patients with specific genetic endotypes.


U19 AI070235-11 (Khurana Hershey)
09/01/16 – 08/31/21
NIH/NIAID Role: Co-Investigator, Project 2 ($218,923)
Epithelial Genes in Allergic Inflammation
Project 2: SPINK7 in allergic inflammation
(Rothenberg)

The major goal of this project is to prove that the decreased expression of this inhibitor (SPINK7) promotes allergic responses by unleashing a protease dependent pro-inflammatory response accompanied by loss of epithelial barrier function and production of pro-allergic mediators.


R01 AI024717-29 (Harley)
06/16/16 – 05/31/21
NIH/NIAID Role: Investigator
“Genetic Linkage in Lupus”

The main focus of this project is to define a regulatory complex shared among multiple SLE risk loci and provide the molecular details and insights needed to alter this structure and its activity with therapeutic intervention.


U01 HG008666 (Harley)
09/01/15 – 05/31/19
NIH/NHGRI Role: Investigator
Better Outcomes for Children: Promoting Excellence in Healthcare Genomics to Inform Policy

Our goals are threefold: Aim 1 – We will help the eMERGE III Steering Committee identify the 100 or so genes for the eMERGE III Targeted Gene Panel (eTGP), select our 2,000 Cincinnati Children's Hospital Medical Center patients to be sequenced (of the 38,000 in our Biobank), review 4,000 targeted gene panels from clinical care at Cincinnati Children's for somatic mosaicism and reinterpretation, and further develop and disseminate a software workflow suite for sequence analysis (CASSI). Aim 2 - We will extend our work generating EHR phenotype algorithms, develop working collaborations with Patients Care Outcomes Research Institute (PCORI) and the Million Veterans Program. Aim 3 - We will develop tools to evaluate adolescent return of results preferences, examine the ethical and legal obligations and potential to reanalyze results, analyze the cost of tacrolimus management of kidney transplant with and without CYP3A5 testing, develop clinical decision support for phenotyping, test ordering, and returning eTGP results.


R01 AI124355 (Rothenberg)
09/01/15 – 02/29/20
NIH/NIAID Role: Investigator
Genetic and Immunological Dissection of Eosinophilic Esophagitis

The major goal of this project is to understand the genetic and immunological properties of eosinophilic esophagitis, a chronic, food-driven, tissue-specific, esophageal, inflammatory allergic disease characterized by marked eosinophil accumulation.


R01 NS099068 (Weirauch)
04/01/17 – 12/31/21
NIH/NINDS Role: Co-Investigator
Binding of Epstein Barr Virus EBNA2 unifies multiple sclerosis genetic mechanisms

The major goal of this project is to test the hypothesis that allele-dependent binding of EBNA2 and its co-factors explains the allele-dependent risk at many MS genetic loci.


U01 AI130830 (Harley)
06/01/17 – 05/31/22
NIH/NIAID Role: Investigator
Gene Regulation as a Foundation for Autoimmune Disease Prevention

The major goals of this project are to test binding of specific regulatory molecules for association with autoimmune disease loci, experimentally generate regulatory molecule binding datasets that hold potential to be revealing for autoimmune disease etiology and pathophysiologic mechanisms, experimentally evaluate specific variants for their capacity to alter gene regulation, and provide support for the application of the informatics and procedures developed in this project.


ARC Award 53522 (Harley, Brunner)
01/15/17 – 01/14/20
Cincinnati Children’s Hospital Medical Center Role: Investigator
Lupus Treatment and Research Center

The goal of this project is to make Cincinnati Children's and, by extension, UC, the destination for comprehensive personalized patient-centered care for SLE by systematically attending to the needs of each patient and applying our research findings.


R01 PA-15-027 (Jensen, PI; Rothenberg, Subsite PI)
07/01/18 – 06/30/23
NIH (subcontract with Wake Forest University) Role: Investigator
Early life factors, gene-environment interaction and eosinophilic esophagitis

The goals of this project are to replicate the CAPN14 genetic association with EoE in an independent cohort and to examine disease risk scores in interaction with early life factors.