A5023325408- Ocular Oncology and Treatments
- Genetic Associations and Epidemiology
- Microtubule and mitosis dynamics
- Epigenetics and DNA Methylation
- Alzheimer's disease research and treatments
- Retinal Development and Disorders
- Immunotherapy and Immune Responses
- Nanoplatforms for cancer theranostics
- Genomics and Rare Diseases
- Health, Environment, Cognitive Aging
- Assisted Reproductive Technology and Twin Pregnancy
- Ovarian cancer diagnosis and treatment
- MicroRNA in disease regulation
- Bioinformatics and Genomic Networks
- Dementia and Cognitive Impairment Research
- RNA Research and Splicing
- Endometrial and Cervical Cancer Treatments
- Cancer and Skin Lesions
- Reproductive Health and Contraception
- Biological Research and Disease Studies
- Prostate Cancer Treatment and Research
- Inflammatory Biomarkers in Disease Prognosis
- PI3K/AKT/mTOR signaling in cancer
- Maternal and Perinatal Health Interventions
- Cervical Cancer and HPV Research
Cleveland Clinic
2021-2025
Cleveland Clinic Lerner College of Medicine
2025
Dr. John T. Macdonald Foundation
2018-2024
University of Miami
2017-2024
Wake Forest University
2020
Case Western Reserve University
2020
Sylvester Comprehensive Cancer Center
2019
Hope College
2019
Gynecologic Oncology Group
2019
The ApoE ε4 allele is the most significant genetic risk factor for late-onset Alzheimer disease. conferred by ε4, however, differs across populations, with populations of African ancestry showing lower compared to those European or Asian ancestry. cause this heterogeneity in effect currently unknown; it may be due environmental cultural factors correlated ancestry, variation local region that among populations. Exploring these hypotheses lead novel, population-specific therapeutics and...
Abstract Acer (the maple genus) is one of the diverse tree genera in Northern Hemisphere with about 152 species, most which are eastern Asia. There roughly a dozen species Europe/western Asia and North America. Several phylogenetic studies have been conducted since 1998, but none provided satisfactory resolution for basal relationships among sections . Here we report first well‐resolved phylogeny based on DNA sequences over 500 nuclear loci generated using anchored hybrid enrichment method...
Abstract Introduction Apolipoprotein E ( APOE ) ε4 confers less risk for Alzheimer's disease (AD) in carriers with African local genomic ancestry (ALA) than European (ELA). Cell type specific transcriptional variation between the two ancestries (LAs) could contribute to this differences. Methods Single‐nucleus RNA sequencing was performed on frozen frontal cortex of homozygous ε4/ε4 AD patients: seven ELA, four ALA. Results A total 60,908 nuclei were sequenced. Within LA region...
Abstract Purpose: The strong association between BAP1 mutations and metastasizing Class 2 uveal melanoma (UM) suggests that epigenetic alterations may play a significant role in tumor progression. Thus, we characterized the impact of loss on DNA methylome UM. Experimental Design: Global methylation was analyzed 47 1 45 primary UMs UM cells engineered to inducibly deplete BAP1. RNA-Seq 80 samples cells. Results: Hypermethylation chromosome 3 correlated with downregulated gene expression at...
Introduction Hispanic/Latino populations are underrepresented in Alzheimer Disease (AD) genetic studies. Puerto Ricans (PR), a three-way admixed (European, African, and Amerindian) population is the second-largest Hispanic group continental US. We aimed to conduct genome-wide association study (GWAS) comprehensive analyses identify novel AD susceptibility loci characterize known risk PR population. Materials methods Our included Whole Genome Sequencing (WGS) phenotype data from 648...
Here, we re-examine
Puerto Ricans, the second largest Latino group in continental US, are underrepresented genomic studies of Alzheimer disease (AD). To increase representation this AD, we developed a multisource ascertainment approach to enroll AD patients, and their family members living Rico (PR) as part Alzheimer's Disease Sequencing Project (ADSP), an international effort advance broader personalized/precision medicine initiatives for across all populations.The Initiative (PRADI) was recruit Rican adults...
Background: The Latino population is greatly understudied in biomedical research, including genetics. Very little information available on presence of known variants originally identified non-Hispanic white patients or novel the population. admixed, with contributions European, African, and Amerindian ancestries. Therefore, ancestry surrounding a gene (local ancestry, LA) can be any three contributing ancestries thus determine risk effect detected. Methods: We sequenced major exons reported...
Abstract Low-grade serous ovarian carcinoma (LGSOC) is known to exhibit chemoresistance. Effective treatment options for recurrent disease are few and often limited hormone antagonism. Combination of endocrine therapies with MEK-inhibitors displays synergism in preclinical cancer models, however. This brief communication presents the use combination anti-estrogenic MEK-inhibitor therapies, fulvestrant trametinib, as a heavily pretreated patient estrogen receptor-positive, LGSOC. The...
The genetic admixture of Caribbean Hispanics provides an opportunity to discover novel factors in Alzheimer disease (AD). We sought identify variants for AD through a family-based design using the Puerto Rican (PR) Disease Initiative (PRADI). Whole-genome sequencing (WGS) and parametric linkage analysis were performed 100 individuals from 23 multiplex PRADI families. Variants prioritized by minor allele frequency (<0.01), functional potential [combined annotation dependent depletion score...
Thrombocytosis (platelets ≥ 400K) is a common hematologic finding in gynecologic malignancies and associated with worse outcomes. Limited data exist on the prognostic capability of thrombocytosis women high-grade endometrial cancer (EC). Our objective was to describe associations between elevated platelets at diagnosis, clinicopathologic features, survival outcomes among high-grade, non-endometrioid EC. A review institutional registry performed identify these treated 2005 2017....
Black women are known to have a higher risk of aggressive endometrial cancers. Little data exist about the role nativity as determinant survival outcomes in with this disease.Our objective was evaluate population Haitian immigrants cancer an urban setting using Florida Cancer Data System (FCDS).A search FCDS identified 107 born Haiti and who received treatment for invasive Miami-Dade County between 1989 2013. Clinicopathologic were extracted describe cohort assess associations overall...
To investigate potential differences in RNA expression between brains of AA Alzheimer Disease (AD) patients that are homozygous carriers the African Apolipoprotein E4 (APOE4) allele vs NHW APOE4 allele, using single nuclei RNAseq (snRNAseq)
Abstract APOEε4 African local genomic ancestry (LA) confers less risk for Alzheimer disease (AD) relative to European LA carriers. Single nucleus RNA sequencing from AD- APOEε4/4 frontal cortex found carriers have a 1.45-fold greater expression (p< 1.8 E10 −313 ) and are associated with unique A1 reactive astrocyte cluster. This suggests potential mechanism the increased AD seen in of .
Abstract Background APOEε4 is the strongest genetic risk factor for Alzheimer Disease (AD) in European populations. African local genomic ancestry (LA) surrounding allele has been associated with a decreased AD African‐American (AA) carriers relative to LA Non‐Hispanic Whites (NHW) (Rajalbi et al 2018). Identifying cause of this protective effect AA could lead therapeutic intervention lowering . Method To identify potential gene expression variations region contributing differential Single...