A5018491787- Malaria Research and Control
- Mosquito-borne diseases and control
- Chromosomal and Genetic Variations
- Viral-associated cancers and disorders
- Lymphoma Diagnosis and Treatment
- Computational Drug Discovery Methods
- Trauma and Emergency Care Studies
- Trauma, Hemostasis, Coagulopathy, Resuscitation
- vaccines and immunoinformatics approaches
- Parasites and Host Interactions
- Genomic variations and chromosomal abnormalities
- Genomics and Phylogenetic Studies
- Immune Cell Function and Interaction
- Hemoglobinopathies and Related Disorders
- HIV/AIDS drug development and treatment
- Hepatitis C virus research
- Genomics and Chromatin Dynamics
- Cancer-related molecular mechanisms research
- Viral Infections and Vectors
- Vector-borne infectious diseases
- MicroRNA in disease regulation
- RNA and protein synthesis mechanisms
- HIV Research and Treatment
- Trypanosoma species research and implications
- Travel-related health issues
John Brown University
2019-2025
Brown University
2019-2025
Warren Alpert Foundation
2025
Columbia University Irving Medical Center
2025
New York Stem Cell Foundation
2025
University of Massachusetts Chan Medical School
2012-2023
Baystate Health
2023
Providence College
2022
Walter Reed National Military Medical Center
2016-2021
Blanchfield Army Community Hospital
2021
Primate-specific segmental duplications are considered important in human disease and evolution. The inability to distinguish between allelic duplication sequence overlap has hampered their characterization as well assembly annotation of our genome. We developed a method whereby each public is analyzed at the clone level for overrepresentation within whole-genome shotgun sequence. This test ability detect larger than 15 kilobases irrespective copy number, location, or high similarity. mapped...
Segmental duplications play fundamental roles in both genomic disease and gene evolution. To understand their organization within the human genome, we have developed computational tools methods necessary to detect identity between long stretches of sequence despite presence high copy repeats large insertion-deletions. Here present our analysis most recent genome assembly (January 2001) which focus on global these segments role they whole-genome process. Initially, considered only duplication...
Jeffrey A. Bailey1, Amy M. Yavor1, Hillary F. Massa2, Barbara J. Trask2, and Evan E. Eichler1,3 Department of Genetics Center for Human Genetics, Case Western Reserve School Medicine University Hospitals Cleveland, Ohio 44106, USA; 2Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA
X inactivation is a chromosome-specific form of genetic regulation in which thousands genes on one homologue become silenced early female embryogenesis. Although many aspects are now understood, the spread signal along entire length chromosome remains enigmatic. Extending Gartler–Riggs model [Gartler, S. M. & Riggs, A. D. (1983) Annu. Rev. Genet. 17, 155–190], Lyon recently proposed [Lyon, F. (1998) Cytogenet. Cell 80, 133–137] that nonrandom organization long interspersed element (LINE)...
The term golden hour was coined to encourage urgency of trauma care. In 2009, Secretary Defense Robert M. Gates mandated prehospital helicopter transport critically injured combat casualties in 60 minutes or less.To compare morbidity and mortality outcomes for before vs after the mandate those who underwent less more than minutes.A retrospective descriptive analysis battlefield data examined 21,089 US military that occurred during Afghanistan conflict from September 11, 2001, March 31, 2014....
Plasmodium falciparum parasites that are resistant to artemisinins have been detected in Southeast Asia. Resistance is associated with several polymorphisms the parasite's K13-propeller gene. The molecular epidemiology of these artemisinin resistance genotypes African parasite populations unknown. We developed an assay quantify rare uses a pooled deep-sequencing approach score allele frequencies, validated it by evaluating mixtures laboratory strains, and then used screen P. from >1100...
ABSTRACT Ixodes scapularis is the principal vector of Lyme disease on East Coast and in upper Midwest regions United States, yet tick also present Southeast, where absent or rare. A closely related species, I. affinis , carries pathogen South but does not seem to transmit it humans. In order better understand geographic diversity tick, we analyzed microbiota 104 adult 13 ticks captured 19 locations Carolina, North Virginia, Connecticut, New York. Initially, from 4 sites were by 454...
In Uganda, artemether-lumefantrine is recommended for malaria treatment and sulfadoxine-pyrimethamine chemoprevention during pregnancy, but drug resistance may limit efficacies. Genetic polymorphisms associated with sensitivities to key drugs were characterized in samples collected from 16 sites across Uganda 2018 2019 by ligase detection reaction fluorescent microsphere, molecular inversion probe, dideoxy sequencing, quantitative polymerase chain assays. Considering transporter...
In Africa, most rapid diagnostic tests (RDTs) for falciparum malaria recognize histidine-rich protein 2 antigen. Plasmodium parasites lacking (pfhrp2) and 3 (pfhrp3) genes escape detection by these RDTs, but it is not known whether deletions confer sufficient selective advantage to drive population expansion. By studying blood samples from a cohort of 12,572 participants enroled in prospective, cross-sectional survey along Ethiopia's borders with Eritrea, Sudan South using PCR, an...
Partial resistance of Plasmodium falciparum to the artemisinin component artemisinin-based combination therapies, most important malaria drugs, emerged in Southeast Asia and now threatens East Africa. resistance, which manifests as delayed clearance after therapy, is mediated principally by mutations kelch protein K13 (PfK13). Limited longitudinal data are available on emergence spread We performed annual surveillance among patients who presented with uncomplicated at 10 16 sites across...
Abstract Diagnosis and treatment of Plasmodium falciparum infections are required for effective malaria control pre-requisites elimination efforts; hence we need to monitor emergence, evolution spread drug- diagnostics-resistant parasites. We deep sequenced key drug-resistance mutations 1,832 SNPs in the parasite genomes 609 cases collected during a diagnostic-resistance surveillance study Ethiopia. found that 8.0% (95% CI 7.0–9.0) were caused by P. carrying candidate artemisinin...
Artemisinin partial resistance may facilitate selection of Plasmodium falciparum resistant to combination therapy partner drugs. We evaluated 99 P. isolates collected in 2021 from northern Uganda, where resistance-associated PfK13 C469Y and A675V mutations have emerged, eastern these are uncommon. With the ex vivo ring survival assay, with 469Y mutation (median 7.3% for mutant, 2.5% mixed, 1.4% wild type) and/or Pfcoronin or falcipain-2a, had significantly greater survival; all >5% at least...
In 2021, nationwide malaria molecular surveillance revealed a high prevalence of validated artemisinin resistance marker, the kelch13 (k13) Arg561His mutation, in Kagera region northwestern Tanzania. We aimed to investigate efficacy artemether-lumefantrine and artesunate-amodiaquine confirm presence partial (ART-R) Karagwe district this region. This single-arm, therapeutic study was carried out at Bukangara dispensary Eligible participants were aged between 6 months 120 months, had confirmed...
Plasmodium falciparum with the histidine rich protein 2 gene (pfhrp2) deleted from its genome can escape diagnosis by HRP2-based rapid diagnostic tests (HRP2-RDTs). The World Health Organization (WHO) recommends switching to a non-HRP2 RDT for P. clinical case when pfhrp2 deletion prevalence causes ≥ 5% of RDTs return false negative results. Tanzania is country heterogenous transmission, some regions approaching elimination and others at varying levels control. In concordance current...
Abstract Genomic surveillance of Plasmodium falciparum malaria can provide policy-relevant information about antimalarial drug resistance, diagnostic test failure, and the evolution vaccine targets. Yet large low complexity genome P. complicates development genomic methods, while resource constraints in endemic regions limit their deployment. Here, we demonstrate an approach for targeted nanopore sequencing from dried blood spots (DBS) that enables cost-effective low-resource settings. We...
The finished sequence of human chromosome 20 comprises 59,187,298 base pairs (bp) and represents 99.4% the euchromatic DNA. A single contig 26 megabases (Mb) spans entire short arm, five contigs separated by gaps totalling 320 kb span long arm this metacentric chromosome. An additional 234,339 bp has been determined within pericentromeric region arm. We annotated 727 genes 168 pseudogenes in sequence. About 64% these have a 5' 3' untranslated complete open reading frame. Comparative analysis...
Abstract We have placed 7,600 cytogenetically defined landmarks on the draft sequence of human genome to help with characterization genes altered by gross chromosomal aberrations that cause disease. The are large-insert clones mapped chromosome bands fluorescence in situ hybridization. Each clone contains a tag is positioned genomic sequence. This genome-wide set sequence-anchored allows structural and functional analyses genome. resource represents first comprehensive integration...