A5021052696- Genetic Associations and Epidemiology
- Epigenetics and DNA Methylation
- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Genomics and Chromatin Dynamics
- Traditional Chinese Medicine Studies
- Viral Infections and Immunology Research
- Cancer-related gene regulation
- RNA modifications and cancer
- Chromosomal and Genetic Variations
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Insect symbiosis and bacterial influences
- Single-cell and spatial transcriptomics
- DNA Repair Mechanisms
- Health Systems, Economic Evaluations, Quality of Life
- Forensic and Genetic Research
- Metabolomics and Mass Spectrometry Studies
- Insect Resistance and Genetics
- Schizophrenia research and treatment
- Machine Learning in Bioinformatics
- Birth, Development, and Health
- Complement system in diseases
- Computational Drug Discovery Methods
- Genomics and Phylogenetic Studies
Alberta Children's Hospital
2023-2025
University of Calgary
2021-2025
Alberta Children's Hospital Research Institute
2023-2024
Institute of Genomics and Integrative Biology
2011-2022
University of Delhi
2017-2021
Ambedkar University Delhi
2017-2021
Council of Scientific and Industrial Research
2011-2018
Bharati Vidyapeeth Deemed University
2015-2017
Tufts University
2017
Jean Mayer Human Nutrition Research Center on Aging
2017
OBJECTIVES--An epidemiological study of 90 male pesticide applicators licensed in New York was conducted to investigate the effect exposure organophosphate pesticides on peripheral nervous system. METHODS--A cohort farmers and from State were questioned off season (November 1988-February 1989) again during spraying (April 1989-August about presence several acute signs symptoms. Short term validated by measuring concentration dimethylthiophosphate (DMTP), a metabolite guthion, urine. Chronic...
SLC13A5 encodes a citrate transporter highly expressed in the brain and is important for regulating intra- extracellular levels. Mutations this gene cause rare infantile epilepsy characterized by lifelong seizures, developmental delays, behavioral deficits, poor motor progression, language impairments. individuals respond poorly to treatment options; yet drug discovery programs are limited due paucity of animal models that phenocopy human symptoms. Here, we used CRISPR/Cas9 create...
Abstract Clozapine is the most effective antipsychotic for patients with treatment-resistant schizophrenia. However, response highly variable and possible genetic underpinnings of this variability remain unknown. Here, we performed polygenic risk score (PRS) analyses to estimate amount variance in symptom severity among clozapine-treated explained by PRSs (R2) examined association between genotype-predicted CYP1A2, CYP2D6, CYP2C19 enzyme activity. Genome-wide (GWA) were explore loci...
Matrix metalloproteinases (MMPs) and tissue inhibitors of MMPs (TIMPs) are crucial to the processes normal labor parturition. We have previously reported aberrant protein levels in placenta women delivering preterm as compared term. In this study, we examine mRNA (MMP-1, MMP-2, MMP-9) TIMPs (TIMP-1, TIMP-2) from with term further study promoter DNA methylation MMP-9 gene a sub-sample placentae. A total 110 were included study; 56 delivered 54 preterm. MMP TIMP determined by Taqman-based...
Predictors consistently associated with psychosis liability and course of illness in schizophrenia (SCZ) spectrum disorders (SSD), including the need for clozapine treatment, are lacking. Longitudinally ascertained medication use may empower studies examining associations between polygenic risk scores (PRSs) pharmacotherapy choices.To examine PRS-SCZ loading groups different liabilities to SSD (individuals taking clozapine, individuals other antipsychotics, their parents siblings, unrelated...
The Indian Genome Variation Consortium (IGVC) project, an initiative of the Council for Scientific and Industrial Research, has been first large-scale comprehensive study population. One major aims project is to catalog variations in nearly thousand candidate genes related diseases drug response predictive marker discovery, founder identification also address questions ethnic diversity, migrations, extent relatedness with other world Phase I aimed at providing a set reference populations...
Precision medicine aims to move from traditional reactive a system where risk groups can be identified before the disease occurs. However, phenotypic heterogeneity amongst diseased and healthy poses major challenge for identification markers stratification early actionable interventions. In Ayurveda, individuals are phenotypically stratified into seven constitution types based on multisystem phenotypes termed "Prakriti". It enables prediction of health trajectories selection We hypothesize...
The use of genome-wide genotyping arrays in pharmacogenomics (PGx) research and clinical implementation applications is increasing but it unclear which are best suited for these applications. Here, we conduct a comparative coverage analysis PGx alleles included on arrays, with an emphasis genes PGx-based prescribing guidelines. Genomic manifest files seven including the Axiom Precision Medicine Diversity Array (PMDA), PMDA Plus, PangenomiX, PangenomiX Infinium Global Screening Array, (GDA)...
Brain pericytes are one of the critical cell types that regulate endothelial barrier function and activity, thus ensuring adequate blood flow to brain. The genetic pathways guiding undifferentiated cells into mature not well understood. We show here pericyte precursor populations from both neural crest head mesoderm zebrafish express transcription factor nkx3 . 1 develop brain pericytes. identify gene signature these precursors an -, foxf2a cxcl12b -expressing population is present around...
Abstract The present prospective study examines proportions of maternal erythrocyte fatty acids across gestation and their association with cord in normotensive control (NC) preeclamptic pregnancies. We hypothesize that acid status early pregnancy influences fetal stores preeclampsia. 137 NC women 58 preeclampsia were included this study. Maternal blood was collected at 3 time points during (16–20th weeks, 26–30th weeks delivery). Cord delivery. Fatty analyzed using gas chromatography....
Nearly a thousand mutations mapping to 60 different loci have been identified in cerebellar ataxias. However, almost 50% of the cases remain genetically uncharacterized and there is difference prevalence as well phenotypic spectrum ataxia among various geographical regions. This poses challenge for setting up genetic panel screening ataxia. In our ataxic cohort 1014 families, 61% are ( UC ). We investigated potential whole exome sequencing conjunction with homozygosity HM ) delineate defects...
Admixture mapping has been enormously resourceful in identifying genetic variations linked to phenotypes, adaptation, and diseases. In this study through analysis of copy number variable regions (CNVRs), we report extensive restructuring the genomes recently admixed African-Indian population (OG-W-IP) that inhabits a highly saline environment Western India. The included subjects from OG-W-IP (OG), five different Indian three HapMap populations were genotyped using Affymetrix version 6.0...
There have been concerted efforts toward cataloging rare and deleterious variants in different world populations using high-throughput genotyping sequencing-based methods. The Indian population is underrepresented or its information with respect to clinically relevant sparse public data sets. aim of this study was estimate the burden monogenic disease-causing populations. Toward this, we assessed frequency profile phenotype-associated ClinVar variants. utilized a genotype set (global...
Abstract Personalized medicine relies on successful identification of genome-wide variations that governs inter-individual differences in phenotypes and system level outcomes. In Ayurveda, assessment composite constitution types “ Prakriti” forms the basis for risk stratification, predicting health disease trajectories personalized recommendations. Here, we report a novel method identifying pleiotropic genes variants associate with healthy individuals three extreme contrasting constitutions...
Vitiligo is the most common skin pigmentation disorder which affects around 1% of population worldwide. The disease has complex pathogenesis and multifactorial etiology, that finally culminates in patchy depigmentation skin. Genetic contribution to well studied, however information about multiple associated genes contributing variations are scattered across literature. To address this affecting skin, we systematically cataloged by creating a Locus Specific Database for vitiligo called,...
Caffeine is the most consumed drug in world, and it commonly used by children. Despite being considered relatively safe, caffeine can have marked effects on sleep. Studies adults suggest that genetic variants adenosine A2A receptor (ADORA2A, rs5751876) cytochrome P450 1A (CYP1A, rs2472297, rs762551) loci are correlated with caffeine-associated sleep disturbances intake (dose), but these associations not been assessed We examined independent interaction of daily dose candidate ADORA2A CYP1A...
Spinocerebellar ataxia type 7 (SCA7) is a rare neurogenetic disorder caused by highly unstable CAG repeat expansion mutation in coding region of SCA7. We aimed to understand the effect diverse ATXN7 cis-element correlation with initially performed an analysis identify haplotype background expanded alleles using eight bi-allelic single nucleotide polymorphisms (SNPs) flanking ATXN7-CAG 32 individuals from nine unrelated Indian SCA7 families and 88 healthy controls. Subsequent validation...