A5014646117- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- SARS-CoV-2 and COVID-19 Research
- Acute Myeloid Leukemia Research
- SARS-CoV-2 detection and testing
- Retinal Diseases and Treatments
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Genomics and Rare Diseases
- Respiratory viral infections research
- Cancer Immunotherapy and Biomarkers
- COVID-19 diagnosis using AI
- COVID-19 Clinical Research Studies
- Chronic Lymphocytic Leukemia Research
- CRISPR and Genetic Engineering
- Chromosomal and Genetic Variations
- Retinal Imaging and Analysis
- Acute Lymphoblastic Leukemia research
- Chronic Myeloid Leukemia Treatments
- Ferroptosis and cancer prognosis
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Advanced Drug Delivery Systems
- Epigenetics and DNA Methylation
- Glaucoma and retinal disorders
Greenwood Genetic Center
2022-2025
Augusta University
2020-2023
Guru Nanak Dev University
2015-2023
Augusta University Health
2020-2022
William Harvey Research Institute
2022
Queen Mary University of London
2022
Praxis (United States)
2022
Haukeland University Hospital
2022
King's College London
2022
University College London
2022
Detection of hallmark genomic aberrations in acute myeloid leukemia (AML) is essential for diagnostic subtyping, prognosis, and patient management. However, cytogenetic/cytogenomic techniques used to identify those aberrations, such as karyotyping, fluorescence situ hybridization (FISH), or chromosomal microarray analysis (CMA), are limited by the need skilled personnel well significant time, cost, labor. Optical genome mapping (OGM) provides a single, cost-effective assay with significantly...
The current standard-of-care cytogenetic techniques for the analysis of hematological malignancies include karyotyping, fluorescence in situ hybridization, and chromosomal microarray, which are labor intensive time cost prohibitive, they often do not reveal genetic complexity tumor, demonstrating need alternative technology better characterization these tumors. Herein, we report results from our clinical validation study demonstrate utility optical genome mapping (OGM), evaluated using 92...
This study compares optical genome mapping (OGM) performed at multiple sites with current standard-of-care (SOC) methods used in clinical cytogenetics. included 50 negative controls and 359 samples from individuals (patients) suspected genetic conditions referred for cytogenetic testing. OGM was using the Saphyr system Bionano Access software version 1.7. Structural variants, including copy number aneuploidy, regions of homozygosity, were detected classified according to American College...
Neural tube defects (NTDs) are the most common birth of central nervous system and occur as either isolated malformations or accompanied by anomalies other systems. The genetic basis NTDs remains poorly understood using karyotyping, chromosomal microarray, short-read sequencing, with only a limited number pathogenic variants identified. Collectively, these technologies may fail to detect rare structural (SVs) in genome, which cause defects. Therefore, optical genome mapping (OGM) was applied...
Lung cancer is one of the leading causes death worldwide. Cell pathways such as autophagy, apoptosis, and necrosis can provide useful clinical immunological insights that assist in design personalized therapeutics. In this study, variations expression genes involved cell resulting infiltration immune cells were explored lung adenocarcinoma (The Cancer Genome Atlas: TCGA, (LUAD), 510 patients). Firstly, autophagy (
The standard-of-care diagnostic prenatal testing includes a combination of cytogenetic methods, such as karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray (CMA), using either direct or cultured amniocytes chorionic villi sampling. However, each technology has its limitations: karyotyping low resolution (>5 Mb), FISH is targeted, CMA does not detect balanced structural variations (SVs). These limitations necessitate the use multiple tests, simultaneously...
Optical genome mapping is a high-resolution technology that can detect all types of structural variations in the genome. This second phase multisite study compares performance optical and current standard-of-care methods for diagnostic testing individuals with constitutional disorders, including neurodevelopmental impairments congenital anomalies. Among 627 analyses 2, 405 were retrospective samples supplied by five centers United States 94 prospective collected over 18 months two (June 2021...
Abstract Background Although hyperglycemia is the main instigator in development of diabetic retinopathy, elevated circulating levels a non-protein amino acid, homocysteine, are also associated with an increased risk retinopathy. Homocysteine recycled back to methionine by methylenetetrahydrofolate reductase (MTHFR) and/or transsulfurated cystathionine β-synthase (CBS) form cysteine. CBS and other transsulfuration enzyme cystathionine-γ-lyase (CSE), through desulfuration, generates H 2 S....
Abstract Complex interactions in tumor microenvironment between ECM (extra-cellular matrix) and cancer cell plays a central role the generation of supportive microenvironment. In this study, expression ECM-related genes was explored for prognostic immunological implication clear renal carcinoma (ccRCC). Out 964 genes, higher ( z -score > 2) 35 showed significant association with overall survival (OS), progression-free (PFS) disease-specific (DSS). On comparison to normal tissue, 12 NUDT1...
Docosahexanoic acid (DHA) is an essential omega-3 fatty for normal brain development and its use has increased considerably in recent years.The aim of this study to develop evaluate self-nanoemulsifying drug delivery systems (SNEDDS) DHA improved palatability, dispersibility bioavailability.The SNEDDS were prepared evaluated miscibility, employing different combinations olive oil soyabean as phase, Span 80, 20, soya phosphatidylcholine, Labrafil M 1944 CS surfactants while Tween PEG 400,...
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) testing has lagged in many countries because of test kit shortages and analytical process bottlenecks. This study investigated the feasibility accuracy a sample pooling approach for wide-scale population screening disease 2019. A total 940 nasopharyngeal swab samples (934 negative 6 positive) previously tested SARS-CoV-2 were deidentified assigned random numbers analysis, 94 pools 10 each generated. Automated RNA extraction,...
The present study entails the toxicity evaluation of 7-methyl xanthine (7-MX), first its kind molecule found effective in phase II clinical trials for treatment myopia, comparison to other clinically used xanthines i.e., caffeine and theobromine. For acute evaluation, 7-MX was administered orally two rodent species (rat mice) at doses 300 mg/kg 2000 repeated dose 28-d oral toxicity, 250, 500, 1000 rats. Further, cellular evaluated normal breast epithelial (fR2), rat brain C6 glioma (C6...
The clinical performance of saliva compared with nasopharyngeal swabs (NPSs) has shown conflicting results in healthcare and community settings. In the present study, a total 429 matched NPS sample pairs, collected either or setting, were evaluated. Phase-1 (protocol U) tested 240 pairs; phase 2 (SalivaAll protocol) 189 an additional homogenization step before RNA extraction. A 85 samples evaluated both protocols. phase-1, 28.3% (68/240) positive for severe acute respiratory syndrome...
Impressive global efforts have identified both rare and common gene variants associated with severe COVID-19 using sequencing technologies. However, these studies lack the sensitivity to accurately detect several classes of variants, especially large structural (SVs), which account for a substantial proportion genetic diversity including clinically relevant variation. We performed optical genome mapping on 52 severely ill patients identify rare/unique SVs as decisive predisposition factors...
Abstract The COVID-19 pandemic has resulted in significant diversion of human and material resources to diagnostics, the extent that influenza viruses co-infection patients remains undocumented pose serious public-health consequences. We optimized validated a highly sensitive RT-PCR based multiplex-assay for detection SARS-CoV-2, A B single-test. This study evaluated clinical specimens (n = 1411), 1019 saliva 392 nasopharyngeal swab (NPS), tested using two-assays: FDA-EUA approved SARS-CoV-2...
Structural variations (SVs) play a key role in the pathogenicity of hematological malignancies. Standard-of-care (SOC) methods such as karyotyping and fluorescence situ hybridization (FISH), which have been employed globally for past three decades, significant limitations terms resolution number recurrent aberrations that can be simultaneously assessed, respectively. Next-generation sequencing (NGS)-based technologies are now widely used to detect clinically sequence variants but limited...