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Glicksberg, B. S.

Publications and source records attributed to Glicksberg, B. S..

13 recordsLinked to original sources

In Vivo Transcriptomics-Based Framework for Systematic Indication Expansion

Capturing the systemic effects of drugs in vivo remains a fundamental challenge for drug repurposing strategies. Here, we present an in vivo transcriptomics-based drug repurposing framework that profiles multi-organ RNA-seq from drug-treated rodents to model systemic drug responses and match tissue-specific drug signatures against a compendium of disease signatures for indication expansion. We applied this framework to semaglutide, a GLP-1 receptor agonist originally developed for diabetes and subsequently expanded for several other indications. By harmonizing more than 900 human disease transcriptomic signatures via agentic AI and using Z-transformed reversal of gene expression scoring to quantify drug-disease relationships, our approach successfully recovered established semaglutide indications while deprioritizing Alzheimers disease, an indication for which semaglutide was not effective. Top predictions for common diseases were supported by real-world electronic health record data from the Mount Sinai Health System and several predictions for rare indications are proposed for further investigation. This framework provides a scalable strategy for indication expansion across diverse therapeutic agents, especially investigational compounds for which real-world evidence remains sparse.

systems biology↗

Pharmacogenomics Guided Spaceflight: the intersection between space-flown drugs and space genes

Ten years ago, it was predicted that the multi-omics revolution would also revolutionize space pharmacogenomics. Current barriers related to the findable, accessible, interoperable, and reproducible use of space-flown pharmaceutical data have contributed to a lack of progress beyond application of earth-based principles. To directly tackle these challenges, we have produced a novel database of all the drugs flown into space, compiled from publicly available ontological and spaceflight-related datasets, to exemplify analyses for describing significant spaceflight-related targets. By focusing on mechanisms perturbed by spaceflight, we have provided a novel avenue for identifying the most relevant changes within the drug absorption, distribution, metabolism, and excretion pathways. We suggest a set of space genes, by necessity limited to available tissue types, that can be expanded and modified based on future tissue-specific and mechanistic-specific high-throughput assays. In sum, we provide the justification and a definitive starting point for pharmacogenomics guided spaceflight as a foundation of precision medicine, which will enable long-term human habitation of the Moon, Mars, and beyond. Graphical Abstract O_FIG O_LINKSMALLFIG WIDTH=200 HEIGHT=147 SRC="FIGDIR/small/575951v1_ufig1.gif" ALT="Figure 1"> View larger version (27K): org.highwire.dtl.DTLVardef@48f739org.highwire.dtl.DTLVardef@5ecdb0org.highwire.dtl.DTLVardef@121c93org.highwire.dtl.DTLVardef@1122b3f_HPS_FORMAT_FIGEXP M_FIG C_FIG

pharmacology and toxicology↗

Orally active mGluR2/3 metabotropic antagonist pro-drug mimics the beneficial effects of physical exercise on neurogenesis, behavior, and exercise-related molecular pathways in an Alzheimer's disease mouse model

Modulation of physical activity represents an important intervention that may delay, slow, or prevent mild cognitive impairment (MCI) or dementia due to Alzheimers disease (AD). One mechanism proposed to underlie the beneficial effect of physical exercise involves the apparent stimulation of adult hippocampal neurogenesis (AHN). BCI-838 is a pro-drug whose active metabolite BCI-632 is an antagonist at the group II metabotropic glutamate receptor (mGluR2/3). We previously demonstrated that administration of BCI-838 to a mouse model of cerebrovascular accumulation of oligomeric A{beta}E22Q (APPE693Q = "Dutch APP") reduced learning behavior impairment and anxiety, both of which are associated with the phenotype of the Dutch APP mice. Here we show that (i) administration of BCI-838, physical exercise, or a combination of BCI-838 and physical exercise enhanced AHN in a four-month old mouse model of AD amyloid pathology (APPKM670/671NL/ PSEN1{Delta}exon9 = APP/PS1), (ii) administration of BCI-838 alone or associated with physical exercise led to stimulation of AHN and improvement in both spatial and recognition memory, (iii) significantly, the hippocampal dentate gyrus transcriptome of APP/PS1 mice following BCI-838 treatment up-regulated brain-derived neurotrophic factor (BDNF), PIK3C2A of the PI3K-MTOR pathway, and metabotropic glutamate receptors, and down-regulated EIF5A of ketamine-modulating mTOR activity, and finally (iv) qPCR findings validate a significantly strong association between increased BDNF levels and BCI-838 treatment. Our study points to BCI-838 as a safe and orally active compound capable of mimicking the beneficial effect of exercise on AHN, learning behavior, and anxiety in a mouse model of AD neuropathology.

neuroscience↗

Sex-Specific Cross Tissue Meta-Analysis Identifies Immune Dysregulation in Women with Alzheimer's Disease

In spite of evidence of females having a greater lifetime risk of developing Alzheimers Disease (AD) and greater apolipoprotein E4-related (apoE4) AD risk compared to males, molecular signatures underlying these findings remain elusive. We took a meta-analysis approach to study gene expression in the brains of 1,084 AD patients and age-matched controls and whole blood from 645 AD patients and age-matched controls. Gene-expression, network-based analysis and cell type deconvolution approaches revealed a consistent immune signature in the brain and blood of female AD patients that was absent in males. Machine learning-based classification of AD using gene expression from whole blood in addition to clinical features revealed an improvement in classification accuracy upon stratifying by sex, achieving an AUROC of 0.91 for females and 0.80 for males. These results help identify sex and apoE4 genotype-specific transcriptomic signatures of AD and underscore the importance of considering sex in the development of biomarkers and therapeutic strategies for AD.

neuroscience↗

OCTAD: an open workplace for virtually screening therapeutics targeting precise cancer patient groups using gene expression features

One approach to precision medicine is to discover drugs that target molecularly defined diseases. Voluminous cancer patient gene expression profiles have been accumulated in public databases, enabling the creation of a cancer-specific expression signature. By matching this signature to perturbagen-induced gene expression profiles from large drug libraries, researchers can prioritize small molecules that present high potency to reverse expression of signature genes for further experimental testing of their efficacy. This approach has proven to be an efficient and cost-effective way to identify efficacious drug candidates. However, the success of this approach requires multiscale procedures, imposing significant challenges to many labs. Therefore, we present OCTAD: an open workplace for virtually screening compounds targeting precise cancer patient groups using gene expression features. We release OCTAD as a web portal and standalone R workflow to allow experimental and computational scientists to easily navigate the tool. In this work, we describe this tool and demonstrate its potential for precision medicine.

bioinformatics↗

Identification and genetic validation of drug-comorbidity interactions in type 2 diabetes using data-driven disease trajectory analysis

Given various risk profiles, manifestations, comorbidities, and outcomes for individuals with Type 2 diabetes mellitus (T2D), a one-size-fits-all approach towards treatment and management is inadequate, and there is a clear need for personalized medications to reduce rates of complications and comorbidities. Here, we leveraged comprehensive Electronic Medical Records (EMR) to identify associations between T2D comorbidities and medications and evaluated their biological determinants using EMR-linked genetic information. We discovered clinically novel associations supported by the previous laboratory studies; e.g. 5-hydroxytryptamine 3 receptor antagonists, ondansetron and granisetron, are protective against cognitive disorders, and clopidogrel is protective against retinopathy. Furthermore, potentially novel associations were validated by genetic analysis; e.g. association between gabapentin and cognitive disorders was supported via variants of its target genes, GRIN1 and CACNA2D2. These results of the current study open the door for optimizing treatment combinations to mitigate risks and for individualizing therapy based on T2D subtype risk profiles.

bioinformatics↗

Towards a Fine-scale Population Health Monitoring System

Understanding population health disparities is an essential component of equitable precision health efforts. Epidemiology research often relies on definitions of race and ethnicity, but these population labels may not adequately capture disease burdens specific to sub-populations. Here we propose a framework for repurposing data from Electronic Health Records (EHRs) in concert with genomic data to explore enrichment of disease within sub-populations. Using data from a diverse biobank in New York City, we genetically identified 17 sub-populations, and noted the presence of genetic founder effects in 7. By then linking community membership to the EHR, we were able to identify over 600 health outcomes that were statistically enriched within a specific population, with many representing known associations, and many others being novel. This work reinforces the utility of linking genomic data to EHRs, and provides a framework towards fine-scale monitoring of population health.

genomics↗

fragilityindex: An R Package for Statistical Fragility Estimates in Biomedicine

Poor reproducibility is a growing crisis in biomedical research. The fragility index was introduced as a convenient measure to estimate how fragile statistical results in clinical trials are to small perturbations in event outcome counts. There is currently no freely available R package to produce this calculation. Furthermore, the original definition of the method is applicable only to 2x2 contingency tables. As such, we developed an R package to calculate fragility index. We have also extended the concept of a statistical fragility index to two of the most commonly used methods in clinical research, survival analysis via weighted log-rank tests and logistic regression, and implemented these technique sin this R package. We describe example applications of these methods to existing publically available datasets. This R package is freely available under the AGPL license on CRAN (https://cran.r-project.org/web/packages/fragilityindex/index.html). The most recent versions may be downloaded and installed via Github (https://github.com/kippjohnson/fragilityindex).

bioinformatics↗

Predictive modeling of susceptibility to substance abuse, mortality and drug-drug interactions in opioid patients

Opioid addiction causes high degree of morbidity and mortality. Preemptive identification of patients at risk of opioid dependence and developing intelligent clinical decisions to deprescribe opioids to the vulnerable patient population may help in reducing the burden. Identifying patients susceptible to mortality due to opioid-induced side effects and understanding the landscape of drug-drug interaction pairs aggravating opioid usage are significant, yet, unexplored research questions. In this study, we present a collection of predictive models to identify patients at risk of opioid abuse, mortality and drug-drug interactions in the context of opioid usage. Using publicly available dataset from MIMIC-III, we developed predictive models (opioid abuse models a=Logistic Regression; b=Extreme Gradient Boosting and mortality model= Extreme Gradient Boosting) and identified potential drug-drug interaction patterns. To enable the translational value of our work, the predictive model and all associated software code is provided. This repository could be used to build clinical decision aids and thus improve the optimization of prescription rates for vulnerable population.

epidemiology↗

Prioritizing Small Molecule as Candidates for Drug Repositioning using Machine Learning

Drug repositioning, i.e. identifying new uses for existing drugs and research compounds, is a cost-effective drug discovery strategy that is continuing to grow in popularity. Prioritizing and identifying drugs capable of being repositioned may improve the productivity and success rate of the drug discovery cycle, especially if the drug has already proven to be safe in humans. In previous work, we have shown that drugs that have been successfully repositioned have different chemical properties than those that have not. Hence, there is an opportunity to use machine learning to prioritize drug-like molecules as candidates for future repositioning studies. We have developed a feature engineering and machine learning that leverages data from publicly available drug discovery resources: RepurposeDB and DrugBank. ChemVec is the chemoinformatics-based feature engineering strategy designed to compile molecular features representing the chemical space of all drug molecules in the study. ChemVec was trained through a variety of supervised classification algorithms (Naive Bayes, Random Forest, Support Vector Machines and an ensemble model combining the three algorithms). Models were created using various combinations of datasets as Connectivity Map based model, DrugBank Approved compounds based model, and DrugBank full set of compounds; of which RandomForest trained using Connectivity Map based data performed the best (AUC=0.674). Briefly, our study represents a novel approach to evaluate a small molecule for drug repositioning opportunity and may further improve discovery of pleiotropic drugs, or those to treat multiple indications.

bioinformatics↗

Learning and Mapping Lyme Disease Patient Trajectories from Electronic Medical Data for Stratification of Disease Risk and Therapeutic Response

BackgroundLyme disease (LD) is an epidemic, tick-borne illness with approximately 329,000 incidences diagnosed each year in United States. Long-term use of antibiotics is associated with serious complications, including post-treatment Lyme disease syndrome (PTLDS). The landscape of comorbidities and health trajectories associated with LD and associated treatments is not fully understood. Consequently, there is an urgent need to improve clinical management of LD based on a more precise understanding of disease and patient stratification.\n\nMethodsWe used a precision medicine machine-learning approach based on high-dimensional electronic medical records (EMRs) to characterize the heterogeneous comorbidities in a LD population and develop systematic predictive models for identifying medications that influence the risk of subsequent comorbidities.\n\nFindingsWe identified 3, 16, and 17 comorbidities at broad disease categories associated with LD within 2, 5, and 10 years of diagnosis, respectively. At higher resolution of ICD-9 levels, we pinpointed specific co-morbid diseases on a timescale that matched the symptoms associated with PTLDS. We identified 7, 30, and 35 medications that influenced the risks of the reported comorbidities within 2, 5, and 10 years, respectively. These medications included six previously associated with the identified comorbidities and 29 new findings. For instance, the first-line antibiotic doxycycline exhibited a consistently protective effect for typical symptoms of LD, including backache Not Otherwise Specified (NOS) and chronic rhinitis, but consistently increased the risk of cataract NOS, tear film insufficiency NOS, and nocturia.\n\nInterpretationOur approach and findings suggest new hypotheses for precision medicine treatments regimens and drug repurposing opportunities tailored to the phenotypic profiles of LD patients.\n\nFundingThe Steven & Alexandra Cohen Foundation

bioinformatics↗

Genetic Identification Of A Common Collagen Disease In Puerto Ricans Via Identity-By-Descent Mapping In A Health System

Achieving confidence in the causality of a disease locus is a complex task that often requires supporting data from both statistical genetics and clinical genomics. Here we describe a combined approach to identify and characterize a genetic disorder that leverages distantly related patients in a health system and population-scale mapping. We utilize genomic data to uncover components of distant pedigrees, in the absence of recorded pedigree information, in the multi-ethnic BioMe biobank in New York City. By linking to medical records, we discover a locus associated with genetic relatedness that also underlies extreme short stature. We link the gene, COL27A1, with a little-known genetic disease, previously thought to be rare and recessive. We demonstrate that disease manifests in both heterozygotes and homozygotes, indicating a common collagen disorder impacting up to 2% of individuals of Puerto Rican ancestry, leading to a better understanding of the continuum of complex and Mendelian disease.

genomics↗

Co-localization of Conditional eQTL and GWAS Signatures in Schizophrenia

Causal genes and variants within genome-wide association study (GWAS) loci can be identified by integrating GWAS statistics with expression quantitative trait loci (eQTL) and determining which SNPs underlie both GWAS and eQTL signals. Most analyses, however, consider only the marginal eQTL signal, rather than dissecting this signal into multiple independent eQTL for each gene. Here we show that analyzing conditional eQTL signatures, which could be important under specific cellular or temporal contexts, leads to improved fine mapping of GWAS associations. Using genotypes and gene expression levels from post-mortem human brain samples (N=467) reported by the CommonMind Consortium (CMC), we find that conditional eQTL are widespread; 63% of genes with primary eQTL also have conditional eQTL. In addition, genomic features associated with conditional eQTL are consistent with context specific (i.e. tissue, cell type, or developmental time point specific) regulation of gene expression. Integrating the Psychiatric Genomics Consortium schizophrenia (SCZ) GWAS and CMC conditional eQTL data reveals forty loci with strong evidence for co-localization (posterior probability >0.8), including six loci with co-localization of conditional eQTL. Our co-localization analyses support previously reported genes and identify novel genes for schizophrenia risk, and provide specific hypotheses for their functional follow-up.

genetics↗