A5051760377- Multiple Sclerosis Research Studies
- Epilepsy research and treatment
- Olfactory and Sensory Function Studies
- Advanced Chemical Sensor Technologies
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Bioinformatics and Genomic Networks
- Biomedical Text Mining and Ontologies
- Systemic Lupus Erythematosus Research
- T-cell and B-cell Immunology
- Gene expression and cancer classification
- EEG and Brain-Computer Interfaces
- Genetics and Neurodevelopmental Disorders
- Machine Learning in Healthcare
- Pharmacological Effects and Toxicity Studies
- Computational Drug Discovery Methods
- T-cell and Retrovirus Studies
- Gastrointestinal Bleeding Diagnosis and Treatment
- Genomic variations and chromosomal abnormalities
- Topic Modeling
- Gastric Cancer Management and Outcomes
- Evolution and Genetic Dynamics
- RNA regulation and disease
- Viral Infections and Immunology Research
- Dermatology and Skin Diseases
Kaiser Permanente Walnut Creek Medical Center
2021-2023
University of Pennsylvania
2016-2022
Kaiser Permanente
2022
Children's Hospital of Philadelphia
2021
Memorial Hospital
2021
Hospital of the University of Pennsylvania
2019-2021
University of California, Los Angeles
2021
Northwestern Memorial Hospital
2021
Northwestern University
2021
University of Michigan–Ann Arbor
2019-2020
Identical (or more correctly 'monozygotic') twins are widely used to study the contributions of genetics and environment human disease. A that focused on three pairs monozygotic twins, in which one twin had multiple sclerosis other did not, has brought latest techniques genome sequencing analysis this field, incidentally published first female sequences. Full sequences were determined for pair these two mRNA transcriptome epigenome CD4+ lymphocytes determined. The striking result is no...
The ability to computationally predict whether a compound treats disease would improve the economy and success rate of drug approval. This study describes Project Rephetio systematically model efficacy based on 755 existing treatments. First, we constructed Hetionet (neo4j.het.io), an integrative network encoding knowledge from millions biomedical studies. v1.0 consists 47,031 nodes 11 types 2,250,197 relationships 24 types. Data were integrated 29 public resources connect compounds,...
Genome-wide association studies (GWAS) testing several hundred thousand SNPs have been performed in multiple sclerosis (MS) and other complex diseases. Typically, the number of markers which evidence for exceeds genome-wide significance threshold is very small, that do not exceed this are generally neglected. Classical statistical analysis these datasets MS revealed genes with known immunological functions. However, many showing modest may represent false negatives. We hypothesize certain...
The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation by sequencing at level that should allow the genome-wide detection most variants with frequencies as low 1%. However, in major histocompatibility complex (MHC), only top 10 frequent haplotypes are 1% frequency range whereas thousands present lower frequencies. Given limitation both coverage and read length sequences generated Project, highly variable positions define HLA alleles may be...
Glutamate is the main excitatory neurotransmitter in mammalian brain. Appropriate transmission of nerve impulses through glutamatergic synapses required throughout brain and forms basis many processes including learning memory. However, abnormally high levels extracellular glutamate can lead to neuroaxonal cell death. We have previously reported elevated brains patients suffering from multiple sclerosis. Here two complementary analyses assess extent genomic control over were used. First, a...
Multiple sclerosis (MS) is the most common autoimmune disease of central nervous system (CNS). It characterized by infiltration autoreactive immune cells into CNS, which target myelin sheath, leading to loss neuronal function. Although it accepted that MS a multifactorial disorder with both genetic and environmental factors influencing its development course, molecular pathogenesis has not yet been fully elucidated. Here, we studied longitudinal gene expression profiles whole-blood RNA from...
The aims of this study were: (i) to determine what degree multiple sclerosis-associated loci discovered in European populations also influence susceptibility African Americans; (ii) assess the extent which unique linkage disequilibrium patterns Americans can contribute localizing functionally relevant regions or genes; and (iii) search for novel American loci. Using ImmunoChip custom array we genotyped 803 cases with sclerosis 1516 control subjects at 130 135 autosomal single nucleotide...
Objective To understand the nature of genetic and environmental susceptibility to multiple sclerosis (MS) and, by extension, other complex diseases. Background Certain basic epidemiological parameters MS (e.g., population-prevalence MS, recurrence-risks for in siblings twins, proportion women among patients, time-dependent changes sex-ratio) are well-established. In addition, more than 233 genetic-loci have now been identified as being unequivocally MS-associated, including 32 loci within...
To assess the association of established multiple sclerosis (MS) risk variants in 3,254 African Americans (1,162 cases and 2,092 controls).Human leukocyte antigen (HLA)-DRB1, HLA-DQB1, HLA-A alleles were typed by molecular techniques. Single nucleotide polymorphism (SNP) genotyping was conducted for 76 MS-associated SNPs 52 ancestry informative marker selected throughout genome. Self-declared refined principal component analysis SNPs. An ancestry-adjusted multivariate model applied to...
Brain magnetic resonance imaging is widely used as a diagnostic and monitoring tool in multiple sclerosis provides non-invasive, sensitive reproducible way to track the disease. Topological characteristics relating distribution shape of lesions are recognized important neuroradiological markers diagnosis sclerosis, although these have been much less well characterized quantitatively than traditional measures such T2 hyperintense or T1 hypointense lesion volumes. Here, we voxel-level 3 T...
Childhood epilepsies have a strong genetic contribution, but the disease trajectory for many etiologies remains unknown. Electronic medical record (EMR) data potentially allow analysis of longitudinal clinical information this has not yet been explored.We analyzed provider-entered neurological diagnoses made at 62,104 patient encounters from 658 individuals with known or presumed epilepsies. To harmonize terminology, we mapped descriptors to Human Phenotype Ontology (HPO) terms and inferred...
Abstract The ability to computationally predict whether a compound treats disease would improve the economy and success rate of drug approval. This study describes Project Rephetio systematically model efficacy based on 755 existing treatments. First, we constructed Hetionet (neo4j.het.io), an integrative network encoding knowledge from millions biomedical studies. v1.0 consists 47,031 nodes 11 types 2,250,197 relationships 24 types. Data was integrated 29 public resources connect compounds,...
Abstract Epidemiologic studies show an increased risk of non‐Hodgkin lymphoma (NHL) in patients with autoimmune disease (AD), due to a combination shared environmental factors and/or genetic factors, or causative cascade: chronic inflammation/antigen‐stimulation one leads another. Here we assess genome‐wide‐association‐studies (GWAS). Secondary analysis GWAS NHL subtypes (chronic lymphocytic leukemia, diffuse large B‐cell lymphoma, follicular and marginal zone lymphoma) ADs (rheumatoid...
Abstract Background The speed at which biological datasets are being accumulated stands in contrast to our ability integrate them meaningfully. Large-scale databases containing of genes, proteins, cells, organs, and diseases created but they not connected. Integration these vast heterogeneous sources information will allow the systematic comprehensive analysis molecular clinical datasets, spanning hundreds dimensions thousands individuals. This integration is essential capitalize on value...
A detailed analysis of whole genomes can be now achieved with next generation sequencing. Epstein Barr Virus (EBV) transformation is a widely used strategy in clinical research to obtain an unlimited source subject's DNA. Although the mechanism and immortalization by EBV relatively well known at transcriptional proteomic level, genetic consequences are less understood. alterations introduced highly relevant, as it will inform on usefulness limitations this approach.We genome sequencing...
Multiple sclerosis (MS) is characterized by temporal and spatial dissemination of demyelinating lesions in the central nervous system. Associated neurodegenerative changes contributing to disability have been recognized even at early disease stages. Recent studies show importance gray matter damage for accrual clinical rather than white where demyelination easily visualized magnetic resonance imaging (MRI). The susceptibility MS influenced genetic risk, but factors associated with are not...
Abstract Introduction Current electroencephalography (EEG) practice relies on interpretation by expert neurologists, which introduces diagnostic and therapeutic delays that can impact patients’ clinical outcomes. As EEG expands, these experts are becoming increasingly limited resources. A highly sensitive specific automated seizure detection system would streamline expedite appropriate management for patients with possible nonconvulsive seizures. We aimed to test the performance of a...
To determine the relationship between highly-conserved extended-haplotypes (CEHs) in major histocompatibility complex (MHC) and MS-susceptibility.Among ~200 MS-susceptibility regions, which are known from genome-wide analyses of single nucleotide polymorphisms (SNPs), MHC accounts for roughly a third currently explained variance strongest MS-associations certain Class II alleles (e.g., HLA-DRB1*15:01; HLA-DRB1*03:01; HLA-DRB1*13:03), frequently reside on CEHs within MHC.Autosomal SNPs...
Electronic medical records (EMR) data are increasingly used in research, but no studies have yet evaluated similarity between EMR and research-quality characteristics of an multiple sclerosis (MS) population known natural MS history.To (1) identify patients system extract clinical data, (2) compare EMR-extracted with gold-standard research (3) to expected history.Algorithms were implemented from the University California San Francisco EMR, de-identify variables. compared cohort a subset...
Genome-wide association studies (GWAS), using single nucleotide polymorphisms (SNPs), have yielded 110 non-human leucocyte antigen genomic regions that are associated with multiple sclerosis (MS). Despite this large number of associations, however, only 28% MS-heritability can currently be explained. Here we compare the use multi-SNP-haplotypes to single-SNPs as alternative methods describe MS genetic risk. SNP-haplotypes (of various lengths from 1 up 15 contiguous SNPs) were constructed at...
Patients with posterior reversible encephalopathy syndrome (PRES) sometimes undergo analysis of cerebrospinal fluid (CSF) to exclude alternative diagnoses. This study's objectives were describe the CSF characteristics in patients PRES and identify clinical radiologic findings associated distinct abnormalities.We identified a retrospective cohort PRES. We compared radiographic those who did versus not lumbar puncture, described observed range findings, analyzed features specific...