JoEllen Weaver
A5002455668- BRCA gene mutations in cancer
- SARS-CoV-2 and COVID-19 Research
- COVID-19 Clinical Research Studies
- Head and Neck Cancer Studies
- Genetic Associations and Epidemiology
- Cancer Genomics and Diagnostics
- Genetics, Bioinformatics, and Biomedical Research
- Colorectal and Anal Carcinomas
- Gene expression and cancer classification
- Molecular Biology Techniques and Applications
- Nutrition, Genetics, and Disease
- CRISPR and Genetic Engineering
- Computational Drug Discovery Methods
- COVID-19 and healthcare impacts
- COVID-19 Impact on Reproduction
- Genomics and Rare Diseases
- RNA modifications and cancer
- Bioinformatics and Genomic Networks
- COVID-19 epidemiological studies
- RNA and protein synthesis mechanisms
- Chromatin Remodeling and Cancer
- Pregnancy and Medication Impact
- Peptidase Inhibition and Analysis
- SARS-CoV-2 detection and testing
- Long-Term Effects of COVID-19
University of Pennsylvania
2015-2025
University of Pennsylvania Health System
2023-2025
Penn Center for AIDS Research
2024
California University of Pennsylvania
2020-2024
Fox Chase Cancer Center
2009-2023
Regeneron (United States)
2023
Palmetto Hematology Oncology
2023
Translational Therapeutics (United States)
2019-2022
Children's Hospital of Philadelphia
2020
Hutchison/MRC Research Centre
2015
Abstract Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets mutation carriers should allow further tumor characterization. Methods: We used data from 4,325 2,568 to analyze the pathology invasive breast, ovarian, contralateral cancers. Results: There was strong evidence proportion estrogen receptor (ER)-negative decreased with age at diagnosis among (P-trend = 1.2 × 10−5), but increased BRCA2, 6.8 10−6)....
Limited data are available for pregnant women affected by SARS-CoV-2. Serological tests critically important determining SARS-CoV-2 exposures within both individuals and populations. We validated a spike receptor binding domain serological test using 834 pre-pandemic samples 31 from COVID-19 recovered donors. then completed testing of 1,293 parturient at two centers in Philadelphia April 4 to June 3, 2020. found 80/1,293 (6.2%) possessed IgG and/or IgM SARS-CoV-2-specific antibodies....
The Penn Medicine BioBank (PMBB) is an electronic health record (EHR)-linked biobank at the University of Pennsylvania (Penn Medicine). A large variety health-related information, ranging from diagnosis codes to laboratory measurements, imaging data and lifestyle integrated with genomic biomarker in PMBB facilitate discoveries translational science. To date, 174,712 participants have been enrolled into PMBB, including approximately 30% non-European ancestry, making it one most diverse...
Susceptibility to testicular germ cell tumors (TGCT) has a significant heritable component, and genome-wide association studies (GWASs) have identified with variants in several genes, including KITLG , SPRY4 BAK1 TERT DMRT1 ATF7IP . In our GWAS, we genotyped 349 TGCT cases 919 controls replicated top hits an independent set of 439 960 attempt find novel susceptibility loci. We second marker (rs7040024) the doublesex mab-3-related transcription factor 1 ( ) gene that is previously described...
Hereditary transthyretin (TTR) amyloid cardiomyopathy (hATTR-CM) due to the TTR V122I variant is an autosomal-dominant disorder that causes heart failure in elderly individuals of African ancestry. The clinical associations carrying variant, its effect other ancestry populations including Hispanic/Latino individuals, and rates achieving a diagnosis carriers are unknown.To assess association between identify hATTR-CM among with failure.Cross-sectional analysis noncarriers aged 50 years or...
Abstract Triple-negative breast cancers are an aggressive subtype of cancer with poor survival, but there remains little known about the etiologic factors that promote its initiation and development. Commonly inherited risk identified through genome-wide association studies display heterogeneity effect among subtypes as defined by status estrogen progesterone receptors. In Triple Negative Breast Cancer Consortium (TNBCC), 22 common susceptibility variants were investigated in 2,980 Caucasian...
Importance Polygenic risk scores (PRSs) for coronary heart disease (CHD) are a growing clinical and commercial reality. Whether existing provide similar individual-level assessments of susceptibility remains incompletely characterized. Objective To characterize the agreement CHD PRSs that perform similarly at population level. Design, Setting, Participants Cross-sectional study participants from diverse backgrounds enrolled in All Us Research Program (AOU), Penn Medicine BioBank (PMBB),...
Abstract The 19p13.1 breast cancer susceptibility locus is a modifier of risk in BRCA1 mutation carriers and also associated with the ovarian cancer. Here, we investigated variation subtypes, defined by estrogen receptor (ER), progesterone (PR), human epidermal growth factor receptor-2 (HER2) status, using 48,869 cases 49,787 controls from Breast Cancer Association Consortium (BCAC). Variants were not overall or ER-positive but significantly ER-negative [rs8170 OR, 1.10; 95% confidence...
SUMMARY Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has rapidly spread within the human population. Although SARS-CoV-2 is a novel coronavirus, most humans had been previously exposed to other antigenically distinct common seasonal coronaviruses (hCoVs) before COVID-19 pandemic. Here, we quantified levels of SARS-CoV-2-reactive antibodies and hCoV-reactive in serum samples collected from 204 We then pre-pandemic antibody separate cohort 252 individuals who became...
It is important to determine if severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections and SARS-CoV-2 mRNA vaccinations elicit different types of antibodies. Here, we characterize the magnitude specificity spike-reactive antibodies from 10 acutely infected health care workers with no prior exposure history 23 participants who received vaccines. We found that infection primary vaccination S1- S2-reactive antibodies, while secondary boosts mostly S1 Using absorption assays, a...
Prospective clinical research studies are essential for determining the effectiveness and safety of drugs, medical devices, healthcare delivery interventions. However, low enrollment, particularly among Black Hispanic patients, challenges generalizability results fairness research. Leveraging insights from behavioral economics to modify content messages recruiting patients join may increase enrollment representativeness trial populations. Method outreach, source message framing, financial...
Some studies suggest that recent common coronavirus (CCV) infections are associated with reduced COVID-19 severity upon SARS-CoV-2 infection. We completed serological assays using samples collected from health care workers to identify antibody types protection and symptom duration. Rare cross-reactive antibodies elicited by past CCV were not protection; however, the duration of symptoms following was significantly in individuals higher betacoronavirus (βCoV) titers. Since titers decline over...
Identification of germline mutations in DNA repair genes has significant implications for the personalized treatment individuals with prostate cancer (PrCa). To determine associated localized PrCa a diverse academic biobank and to genetic testing burden. A cross-sectional study 2391 patients was carried out. Genetic ancestry mutation rates (excluding somatic interference) 17 were determined 1588 3273 cancer-free males. Burden within genetically European (EUR) African (AFR) performed between...
PURPOSE Breast and ovarian tumors in germline BRCA1/2 carriers undergo allele-specific loss of heterozygosity, resulting homologous recombination deficiency (HRD) sensitivity to poly-ADP-ribose polymerase (PARP) inhibitors. This study investigated whether biallelic HRD also occur primary nonbreast/ovarian that arise carriers. METHODS A clinically ascertained cohort with a cancer was identified, including canonical (prostate pancreatic cancers) noncanonical (all other) tumor types....
Abstract Purpose: Multimodality treatment of squamous cell carcinoma the head and neck (SCCHN) often involves radiotherapy cisplatin-based therapy. Elevated activity DNA repair mechanisms, such as nucleotide excision (NER) pathway, which ERCC1 is a rate-limiting element, are associated with cisplatin possibly RT resistance. We have determined cross-complementing group 1 (ERCC1) expression in human papillomavirus (HPV)-negative SCCHN treated surgery [±adjuvant radiotherapy/chemoradiation...
SARS-CoV-2 infection of vaccinated individuals is increasingly common but rarely results in severe disease, likely due to the enhanced potency and accelerated kinetics memory immune responses. However, there have been few opportunities rigorously study early recall responses during human viral infection. To better understand identify potential mediators lasting vaccine efficacy, we used high-dimensional flow cytometry antigen probes examine longitudinal samples from infected Omicron wave....
A paucity of information exists on the recruitment Asian Americans for biospecimen research. Although studies show that Chinese are at high risk hepatitis B virus (HBV) infection, little is known about their willingness to participate in HBV-related research and how knowledge, attitudes, cultural factors impact participate. The study was guided by Community-Based Participatory Research principles. Data were derived from an assessment participation among Philadelphia region. conducted with...
Abstract Limited data are available for pregnant women affected by SARS-CoV-2. Serological tests critically important to determine exposure and immunity SARS-CoV-2 within both individuals populations. We completed serological testing of 1,293 parturient at two centers in Philadelphia from April 4 June 3, 2020. tested 834 pre-pandemic samples collected 2019 15 COVID-19 recovered donors validate our assay, which has a ∼1% false positive rate. found 80/1,293 (6.2%) possessed IgG and/or IgM...
The study of muscle mass as an imaging-derived phenotype (IDP) may yield new insights into determining the normal and pathologic variations in population. This can be done by 3D abdominal from 12 distinct regions groups using computed tomography (CT) a racially diverse medical biobank. To develop fully automatic technique for assessment CT IDPs preliminarily determine IDP with age sex clinically retrospective was conducted Penn Medicine BioBank (PMBB), research protocol that recruits adult...