Richard Gill Email and Phone Number

Human genetics-driven therapeutic target and biomarker discovery for immunological diseases (inflammatory bowel disease, rheumatoid arthritis, lupus nephritis).• Conducted GWAS, rare variant burden, eQTL, splice QTL, and microbiome QTL analyses using Phase 3 IBD trial data, followed by causal inference approaches (colocalization, Mendelian Randomization), to implicate 25 novel genes in IBD severity and diagnosis.• Constructed polygenic risk scores weighted by genetic predisposition to inflammation and disease severity, to predict treatment response in IBD clinical trial data.• Coordinated large-scale genotype-phenotype analyses of UK Biobank and FinnGen data, including plasma proteomics, EHR disease codes and claims data, to discover 3 novel IBD genes, and corroborate results from the analyses above.• Collaborated with therapeutic area biologists and single-cell RNA-seq experts to functionally characterize and understand the direct disease relevance of candidate target genes and biomarkers.• Generated genetic, epigenetic, and cell type-specific expression evidence to inform therapeutic target prioritization, enabling advancement of 3 pipeline targets to late-stage research and Ph1 clinical trials.• Human Genetics project team representative on cross-functional working groups, biomarker teams and research review committees.• Mentored junior members of genetics team, including one-on-one mentoring of two summer intern direct reports

Resolved non-coding heart disease loci by leveraging high-resolution 3D chromatin interaction (2-kb Hi-C) and additional epigenetic data (ATAC-seq peaks and footprints, eRNA at promoters) in primary human cardiac fibroblasts and myocytes.• Processed, analyzed, and integrated large functional genomic datasets to trace regulatory circuits between non-coding GWAS signals and target genes, and to discover novel therapeutic targets and biomarkers.• Proposed, planned, and coordinated functional genomic experiments to validate predicted enhancer/TF relationships with 4 genes previously implicated in cardiac remodeling, fibrosis, and heart disease.

• Oversaw 3 projects simultaneously: Exome Sequencing in Extreme Obesity Families; Functional Genomics of the FTO locus in African Americans; and mediation analysis of 16p11.2 CNVs, Eating Behavior, and Obesity• Independently formulated testable hypotheses and performed wet-lab experiments as well as analyses of large, complex datasets (N ~200,000) to obtain direct evidence of novel genotype-phenotype relationships• Leveraged analytical skills in multivariable regression, mixed linear modeling, factor analysis, mediation analysis, statistical fine-mapping of genetic loci using ENCODE and Roadmap data, as well as gene and protein network construction• Worked with interdisciplinary teams to interpret and publish results (3 first-author publications, 1 as co-author), and presented findings to leaders of academic and pharmaceutical industry collaborations (target genes entered early stage research and were not published)

Genetic linkage analysis of familial epilepsy• Performed detailed phenotypic analyses of a large clinical dataset containing families of individuals with epilepsy characterized by auditory features and aphasiaFamilial co-aggregation of migraine and unprovoked seizure (M.P.H. Thesis)• Used generalized estimating equation (GEE) multivariable regression to model the familial relative risk of unprovoked seizure and migraine comorbidity

Primary care physicians’ knowledge and attitudes toward hyperbaric oxygen therapy (HBOT) in the treatment of diabetic foot ulcers• Worked with an interdisciplinary team to design a questionnaire• Created a searchable database to organize and store survey data• Applied multivariable regression analysis and geographic information system (GIS) modelling to identify predictors of HBOT knowledge and attitudes

Musculoskeletal architecture of the human infraspinatus muscle• Used serial dissection and 3D-digitization to digitally reconstruct a formalin-embalmed cadaveric specimen throughout its volume• Defined novel and architecturally distinct infraspinatus muscle regions via comparative statistical analyses of fibre bundle length, muscle volume, and pennation angles• Prepared and presented poster at the 2007 Annual Meeting of the American Association of Clinical Anatomists (first runner-up for Student Poster Presentation Award)

Cardiac patients’ awareness of heart disease and stroke risk factors and warning symptoms• Personally interviewed 251 patients in the cardiac ward and cardiac clinics• Created a searchable database to organize and store survey data• Identified predictors of health knowledge using multivariable regression analysis