A5010322079- Inflammatory Bowel Disease
- Helicobacter pylori-related gastroenterology studies
- Immunodeficiency and Autoimmune Disorders
- IL-33, ST2, and ILC Pathways
- Parkinson's Disease Mechanisms and Treatments
- Neuroscience and Music Perception
- Microscopic Colitis
- Long-Term Effects of COVID-19
- Dysphagia Assessment and Management
- COVID-19 Clinical Research Studies
- Infectious Encephalopathies and Encephalitis
- Connective tissue disorders research
- Immune Cell Function and Interaction
- Gastrointestinal motility and disorders
- Bioinformatics and Genomic Networks
- Genetic Mapping and Diversity in Plants and Animals
- T-cell and B-cell Immunology
- Esophageal Cancer Research and Treatment
- Forensic and Genetic Research
- Spatial Cognition and Navigation
- RNA Research and Splicing
- Ginkgo biloba and Cashew Applications
- Celiac Disease Research and Management
- Sympathectomy and Hyperhidrosis Treatments
- Glycogen Storage Diseases and Myoclonus
Johns Hopkins Medicine
2023-2025
Johns Hopkins University
2022-2025
Johns Hopkins Hospital
2024
Yale University
2012-2018
Tudor Place
2006
Crohn’s disease (CD)–associated variants in the LRRK2 gene for risk (N2081D) and protection (N551K) mediate shared effects CD Parkinson’s disease.
Abstract GWAS have identified >200 risk loci for Inflammatory Bowel Disease (IBD). The majority of disease associations are known to be driven by regulatory variants. To identify the putative causative genes that perturbed these variants, we generate a large transcriptome data set (nine disease-relevant cell types) and 23,650 cis -eQTL. We show determined ∼9720 modules, which ∼3000 operate in multiple tissues ∼970 on genes. modules drive association 63 200 loci, enriched multigenic...
The Ashkenazi Jewish (AJ) population is a genetic isolate close to European and Middle Eastern groups, with diversity patterns conducive disease mapping. Here we report high-depth sequencing of 128 complete genomes AJ controls. Compared samples, our panel has 47% more novel variants per genome eightfold effective at filtering benign out clinical genomes. Our improves imputation accuracy for SNP arrays by 28%, covers least one haplotype in ≈67% any long, identical-by-descent segments....
Defects in intestinal innate defense systems predispose patients to inflammatory bowel disease (IBD). Reactive oxygen species (ROS) generated by nicotinamide-adenine dinucleotide phosphate (NADPH) oxidases the mucosal barrier maintain gut homeostasis and defend against pathogenic attack. We hypothesized that molecular genetic defects NADPH might be present children with IBD.After targeted exome sequencing of epithelial NOX1 DUOX2 on 209 very early onset (VEOIBD), identified mutations were...
Objective Braak’s hypothesis states that Parkinson’s disease (PD) originates in the gastrointestinal (GI) tract, and similar associations have been established for Alzheimer’s (AD) cerebrovascular diseases (CVD). We aimed to determine incidence of GI syndromes interventions preceding PD compared with negative controls (NCs), AD CVD. Design performed a combined case-control cohort study using TriNetX, US based nationwide medical record network. Firstly, we subjects new onset idiopathic...
Although many feature selection methods for classification have been developed, there is a need to identify genes in high dimensional data with censored survival outcomes. Traditional gene problems several drawbacks. First, the majority of approaches are single-gene based. Second, procedures not embedded within algorithm itself. The technique random forests has found perform well high-dimensional settings It also an variables importance. Therefore, it ideal candidate In this paper, we...
Background and Aims: We sought to develop a minimally-invasive, robust, accessible nonendoscopic strategy diagnose Barrett’s esophagus (BE), esophageal adenocarcinoma (EAC), its immediate precursor lesion, high-grade dysplasia (HGD) based on methylated DNA biomarkers applied retrievable sponge-capsule device in cohort representative of the BE population ( i.e., mostly short-segment, non-dysplastic BE, NDBE). Methods: identified 12 candidate methylation markers distinguish normal vs. abnormal...
INTRODUCTION: We examined autoimmunity markers (AIM) and autonomic dysfunction in patients with chronic neurogastroenterological symptoms their relationship to joint hypermobility/hypermobility spectrum disorder (JH/HSD). METHODS: AIM positivity was defined as a diagnosis of known autoimmune/autoinflammatory at least 1 positive seromarker or 2 seromarkers by themselves. Three cohorts were studied: (i) retrospective (n = 300), (ii) prospective validation cohort 133), (iii) treatment 40),...
Genome-wide association studies (GWAS) in immune-mediated diseases have identified over 150 associated genomic loci. Many of these loci play a role T cell responses, and regulation differentiation plays critical diseases; however, the relationship between implicated disease is incompletely understood. To further address this relationship, we examined differential gene expression naïve human CD4+ cells, as well vitro differentiated Th1, memory Th17-negative Th17-enriched cells subsets using...
In 1993, Rauscher et al. reported a temporary increase in spatial–temporal ability after listening to Mozart's music. This led numerous replication and extension studies with mixed findings the past decade. study investigated 'Mozart effect' preschool children. Forty‐one boys girls, aged three five, attempted series of pencil‐and‐paper maze tests each conditions: Piano Concerto A Major (K488), age‐appropriate popular music silence. Overall, there were no statistically significant differences...
ABSTRACT COVID-19 increases the risk of neurological and gastrointestinal sequelae, but it is unclear if does so more than other infections. Using a multicenter record network, we matched 649,478 patients to negative controls (NCs) infected with influenza, human herpesvirusses, lyme’s disease (LD) compare new-onset (GISx), autonomic (ANSx), sensory (SNSx), motor (MNSx) symptoms 3-12 months after infection. ANSx showed significant compared NCs (odds ratio (OR) 1.34; confidence interval (CI)...
Abstract Background and aims We examined autoimmunity markers (AIMs) in patients with unexplained gastrointestinal symptoms, their relationship to joint hypermobility/hypermobility spectrum disorder (JH/HSD) the response intravenous immunoglobulin (IVIG). Methods The study comprised of three cohorts, consisting adolescent or adult symptoms affecting more than one region gut who underwent laboratory tests, whole transit studies, autonomic testing. AIM positive were defined based on a...
The genomic region on chromosome 12q12 containing leucine-rich repeat kinase 2 (LRRK2) includes major association signals for both Crohn's disease (CD) and Parkinson's (PD). Numerous functional roles have been reported LRRK2 including autophagy, an important process believed to be involved in pathogenesis of CD. Importantly, relatively uncommon, non-synonymous variation this demonstrates allele frequency differences between Ashkenazi Jewish (AJ) non-Jewish European ancestry (NJ) populations....