Elizabeth A. Worthey
A5006311402- Genomics and Rare Diseases
- Cancer Genomics and Diagnostics
- Biomedical Text Mining and Ontologies
- Bioinformatics and Genomic Networks
- Cystic Fibrosis Research Advances
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Trypanosoma species research and implications
- Gene expression and cancer classification
- Research on Leishmaniasis Studies
- Immunodeficiency and Autoimmune Disorders
- Genetic factors in colorectal cancer
- RNA regulation and disease
- Molecular Biology Techniques and Applications
- Genomics and Phylogenetic Studies
- Research Data Management Practices
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Scientific Computing and Data Management
- Biochemical and Molecular Research
- RNA and protein synthesis mechanisms
- Prenatal Screening and Diagnostics
- Congenital heart defects research
- Genetic Associations and Epidemiology
- Immune Cell Function and Interaction
University of Alabama at Birmingham
2020-2025
Pediatrics and Genetics
2023
Children's of Alabama
2022
MedStar Georgetown University Hospital
2022
Georgetown University
2022
University of California, San Diego
2022
University of Michigan–Ann Arbor
2022
HudsonAlpha Institute for Biotechnology
2016-2021
University of Wisconsin–Madison
2020
Children's Hospital of Philadelphia
2019
Whole-genome sequencing of the protozoan pathogen Trypanosoma cruzi revealed that diploid genome contains a predicted 22,570 proteins encoded by genes, which 12,570 represent allelic pairs. Over 50% consists repeated sequences, such as retrotransposons and genes for large families surface molecules, include trans-sialidases, mucins, gp63s, novel family (>1300 copies) mucin-associated protein (MASP) genes. Analyses T. cruzi, brucei , Leishmania major (Tritryp) genomes imply differences...
Leishmania species cause a spectrum of human diseases in tropical and subtropical regions the world. We have sequenced 36 chromosomes 32.8-megabase haploid genome major (Friedlin strain) predict 911 RNA genes, 39 pseudogenes, 8272 protein-coding which 36% can be ascribed putative function. These include genes involved host-pathogen interactions, such as proteolytic enzymes, extensive machinery for synthesis complex surface glycoconjugates. The organization into long, strand-specific,...
A comparison of gene content and genome architecture Trypanosoma brucei, cruzi , Leishmania major three related pathogens with different life cycles disease pathology, revealed a conserved core proteome about 6200 genes in large syntenic polycistronic clusters. Many species-specific genes, especially surface antigen families, occur at nonsyntenic chromosome-internal subtelomeric regions. Retroelements, structural RNAs, family expansion are often associated discontinuities that—along...
We report a male child who presented at 15 months with perianal abscesses and proctitis, progressing to transmural pancolitis colocutaneous fistulae, consistent Crohn disease-like illness. The age severity of the presentation suggested an underlying immune defect; however, despite comprehensive clinical evaluation, we were unable arrive definitive diagnosis, thereby restricting management.We sought identify causative mutation(s) through exome sequencing provide necessary additional...
Abstract Background The trypanosomatids Leishmania major , Trypanosoma brucei and cruzi cause some of the most debilitating diseases humankind: cutaneous leishmaniasis, African sleeping sickness, Chagas disease. These protozoa possess complex life cycles that involve development in mammalian insect hosts, a tightly coordinated cell cycle ensures propagation highly polarized cells. However, ways which parasites respond to their environment coordinate intracellular processes are poorly...
Many patients remain without a diagnosis despite extensive medical evaluation. The Undiagnosed Diseases Network (UDN) was established to apply multidisciplinary model in the evaluation of most challenging cases and identify biologic characteristics newly discovered diseases. UDN, which is funded by National Institutes Health, formed 2014 as network seven clinical sites, two sequencing cores, coordinating center. Later, central biorepository, metabolomics core, organisms screening center were added.
The Rat Genome Database (RGD, http://rgd.mcw.edu) provides the most comprehensive data repository and informatics platform related to laboratory rat, one of important model organisms for disease studies. RGD maintains updates datasets genomic elements such as genes, transcripts increasingly in recent years, sequence variations, well map positions multiple assemblies information. Functional annotations are curated from published literature, submitted by researchers integrated other public...
The Pathway Ontology (PW) developed at the Rat Genome Database (RGD), covers all types of biological pathways, including altered and disease pathways captures relationships between them within hierarchical structure a directed acyclic graph. ontology allows for standardized annotation rat, human mouse genes to pathway terms. It also constitutes vehicle easy navigation gene report pages, reports interactive diagrams, directly connected diagram those that are globally related in suites suite...
The price of whole-genome and -exome sequencing has fallen to the point where these methods can be applied clinical medicine. Here, we outline lessons have learned in converting a laboratory designed for research into fully functional program.
Oral administration of aqueous protein Ag results in profound immunologic tolerance, and it has been suggested previously that this reflects selective activation Th subsets. Here we show the induction oral tolerance by feeding a single high dose OVA to mice significantly reduces production both Th1- Th2-dependent cytokines is accompanied marked reduction specific Abs IgG2a IgG1 isotypes vivo. was also induced normally IL-4-deficient mice. These indicate subsets cell are equally susceptible...
Abstract Background Childhood apraxia of speech (CAS) is a rare, severe, persistent pediatric motor disorder with associated deficits in sensorimotor, cognitive, language, learning and affective processes. Among other neurogenetic origins, CAS the segregating mutation FOXP2 widely studied, multigenerational London family. We report first whole-exome sequencing (WES) findings from cohort 10 unrelated participants, ages 3 to 19 years, well-characterized CAS. Methods As part larger study...
A pilot program was initiated using whole genome sequencing (WGS) to diagnose suspected genetic disorders in the Genetics Clinic at Children's Hospital of Wisconsin. Twenty-two patients underwent WGS between 2010 and 2013. Initially, we obtained a 14% (3/22) diagnosis rate over 2 years; with subsequent reanalysis, this increased 36% (8/22). Disease causing variants were identified SKIV2L, CECR1, DGKE, PYCR2, RYR1, PDGFRB, EFTUD2, BCS1L. In 75% (6/8) diagnosed cases, affected treatment and/or...
The 17 genes of the T-box family are transcriptional regulators that involved in all stages embryonic development, including craniofacial, brain, heart, skeleton and immune system. Malformation syndromes have been linked to many genes. For example, haploinsufficiency TBX1 is responsible for structural malformations DiGeorge syndrome caused by a chromosome 22q11.2 deletion. We report four individuals with an overlapping spectrum craniofacial dysmorphisms, cardiac anomalies, skeletal...
Abstract Background A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under 50%, even when capturing genome-wide. To aid the interpretation prioritization of vast number detected, computational methods proliferating. Knowing which tools most effective remains unclear. evaluate performance methods, to encourage innovation method development, we designed Critical...
The Rat Genome Database (RGD, http://rgd.mcw.edu) was developed to provide a core resource for rat researchers combining genetic, genomic, pathway, phenotype and strain information with focus on disease. RGD users are provided access structured curated data from the molecular level through of whole organism, including variations associated disease phenotypes. To fully support use as translational model biological systems human disease, continues curate these datasets while enhancing...
The Rat Genome Database (RGD) was started >10 years ago to provide a core genomic resource for rat researchers. Currently, RGD combines genetic, genomic, pathway, phenotype and strain information with focus on disease. users are provided access structured curated data from the molecular level through organismal level. Those all over world. End not only researchers but also working mouse human data. Translational research is supported by RGD's comparative genetics/genomics in disease portals,...
Enterococcus faecalis is a Gram-positive bacterium that major cause of hospital-acquired infections, in part due to its intrinsic resistance cephalosporins. The mechanism confers cephalosporin enterococci remains incompletely defined. Previously, we have shown the Ser/Thr protein kinase and phosphatase pair IreK IreP act antagonistically regulate E. faecalis. We hypothesize senses antibiotic-induced cell wall damage activates signaling pathway leading antibiotic resistance. However, factors...
Chromosome 8q24 locus contains regulatory variants that modulate genetic risk to various cancers including prostate cancer (PC). However, the biological mechanism underlying this regulation is not well understood. Here, we developed a chromosome conformation capture (3C)-based multi-target sequencing technology and systematically examined three PC regions at their potential targets across human genome in six cell lines. We observed frequent physical contacts of with multiple genomic regions,...