A5049562691- Retinal Diseases and Treatments
- Retinal Development and Disorders
- Retinal Imaging and Analysis
- Glaucoma and retinal disorders
- Single-cell and spatial transcriptomics
- Retinoids in leukemia and cellular processes
- Retinopathy of Prematurity Studies
- Ophthalmology and Visual Impairment Studies
- Neonatal Respiratory Health Research
- Cerebrovascular and genetic disorders
- Photochromic and Fluorescence Chemistry
- RNA regulation and disease
- Genetic Associations and Epidemiology
- Ocular Oncology and Treatments
- Cell Image Analysis Techniques
- Retinal and Optic Conditions
- RNA and protein synthesis mechanisms
- Corneal surgery and disorders
- Folate and B Vitamins Research
- Neonatal and fetal brain pathology
- Ocular Diseases and Behçet’s Syndrome
- Atherosclerosis and Cardiovascular Diseases
- Lipid metabolism and disorders
- Neuroinflammation and Neurodegeneration Mechanisms
- Neurological Disease Mechanisms and Treatments
University at Buffalo, State University of New York
2020-2025
VA Western New York Healthcare System
2020-2025
University of Utah
2016-2025
New York University
2022-2025
Jacobs Institute
2021-2023
Prevent Blindness
2023
University of Rochester
2023
Jacobs (United States)
2020-2022
Massachusetts Eye and Ear Infirmary
2004-2021
Visual Sciences (United States)
2019-2021
A physical map has been constructed of the human genome containing 15,086 sequence-tagged sites (STSs), with an average spacing 199 kilobases. The project involved assembly a radiation hybrid 6193 loci and incorporated genetic linkage 5264 loci. This information was combined results STS-content screening 10,850 against yeast artificial chromosome library to produce integrated map, anchored by maps. provides coverage 99 percent 94 genome. also represents early step in international generate...
We executed a genome-wide association scan for age-related macular degeneration (AMD) in 2,157 cases and 1,150 controls. Our results validate AMD susceptibility loci near CFH ( P < 10 −75 ), ARMS2 −59 C2/CFB −20 C3 −9 CFI −6 ). compared our top findings with the Tufts/Massachusetts General Hospital study of advanced (821 cases, 1,709 controls) genotyped 30 promising markers additional individuals (up to 7,749 4,625 controls). With these data, we identified locus TIMP3 (overall = 1.1 × −11...
Background BAP1 has been shown to be a target of both somatic alteration in high-risk ocular melanomas (OM) and germline inactivation few individuals from cancer-prone families. These findings suggest that constitutional changes may predispose metastatic OM familial permeation deleterious alleles could delineate new cancer syndrome. Design To characterize BAP1's contribution melanoma risk, we sequenced set 100 patients with OM, including 50 cases matched non-metastatic controls, 200...
Rod and cone photoreceptors are light-sensing cells in the human retina. Rods dominant peripheral retina, whereas cones enriched macula, which is responsible for central vision visual acuity. Macular degenerations affect most currently incurable. Here we report generation, transcriptome profiling, functional validation of cone-rich retinal organoids differentiated from hESCs using an improved differentiation system. Induced by extracellular matrix, aggregates formed single-lumen cysts...
Abstract Single-cell RNA-seq is a powerful tool in decoding the heterogeneity complex tissues by generating transcriptomic profiles of individual cell. Here, we report single-nuclei (snRNA-seq) study on human retinal tissue, which composed multiple cell types with distinct functions. Six samples from three healthy donors are profiled and high-quality data obtained for 5873 single nuclei. All major observed marker genes each type identified. The gene expression macular peripheral retina...
<h3>Importance</h3> Somatic mutations in<i>BAP1</i>(BRCA1-associated protein 1 gene) are frequently identified in uveal melanoma. To date, the role of germline<i> BAP1</i>mutations melanoma has not been characterized. <h3>Objective</h3> characterize clinical phenotype patients with germline<i>BAP1</i>mutations. <h3>Design, Setting, and Participants</h3> Retrospective cohort study at an academic ophthalmology referral center among 507 who consented for collection blood samples. The dates were...
Cell classes in the human retina are highly heterogeneous with their abundance varying by several orders of magnitude. Here, we generated and integrated a multi-omics single-cell atlas adult retina, including more than 250,000 nuclei for single-nuclei RNA-seq 137,000 ATAC-seq. Cross-species comparison among human, monkey, mice, chicken revealed relatively conserved non-conserved types. Interestingly, overall cell heterogeneity primate decreases compared that rodent retina. Through...
Age-related macular degeneration (AMD) is a leading cause of blindness, affecting 200 million people worldwide. To identify genes that could be targeted for treatment, we created molecular atlas at different stages AMD. Our resource comprised RNA sequencing (RNA-seq) and DNA methylation microarrays from bulk retinal pigment epithelium (RPE)/choroid clinically phenotyped normal AMD donor eyes (n = 85), single-nucleus RNA-seq (164,399 cells), assay transposase-accessible chromatin (ATAC)-seq...
Alzheimer’s Disease (AD) is a complex neurodegenerative disease resulting in progressive loss of memory, language and motor abilities caused by cortical hippocampal degeneration. This review captures the landscape understanding AD pathology, diagnostics, current therapies. Two major mechanisms direct pathology: (1) accumulation amyloid β (Aβ) plaque (2) tau-derived neurofibrillary tangles (NFT). The most common variants Aβ pathway APP, PSEN1, PSEN2 are largely responsible for early-onset...
<h3>Objective</h3> To examine if the genes encoding complement factor H (<i>CFH</i>), apolipoprotein E (<i>APOE</i>), and elongation of very-long-chain fatty acids–like 4 (<i>ELOVL4</i>) confer risk neovascular age-related macular degeneration (AMD) in an independent or interactive manner when controlling for smoking exposure. <h3>Methods</h3> We studied 103 unrelated patients with AMD who each had at least 1 sibling normal maculae. Smoking histories were obtained. Genotyping was performed...
Abstract Background Pseudoexfoliation syndrome is a major risk factor for glaucoma in many populations throughout the world. Using U.S. clinic-based case control sample with broad ethnic diversity, we show that three common SNPs LOXL1 previously associated pseudoexfoliation Nordic are significantly and glaucoma. Methods Three were genotyped patient (206 pseudoexfoliation, 331 primary open angle glaucoma, 88 controls) from Glaucoma Consultation Service at Massachusetts Eye Ear Infirmary. The...
Vitamin D has been shown to have anti-angiogenic properties and play a protective role in several types of cancer, including breast, prostate cutaneous melanoma. Similarly, vitamin levels be for risk number conditions, cardiovascular disease chronic kidney disease, as well numerous autoimmune disorders such multiple sclerosis, inflammatory bowel diseases type 1 diabetes mellitus. A study performed by Parekh et al. was the first suggest age-related macular degeneration (AMD) showed...
Diabetic retinopathy (DR) is the most common cause of blindness in people under age 65. Unfortunately, current screening process for DR restricts population that can be evaluated and disease goes undetected until irreversible damage occurs. Herein, we aimed to evaluate homocysteine (Hcy) as a biomarker screening. Hcy levels were measured by enzyme-linked immuno sorbent assay (ELISA) immunolocalization methods serum, vitreous retina diabetic patients well serum different animal models DM...
Abstract Recent advances in viral vector engineering, as well an increased understanding of the cellular and molecular mechanism retinal diseases, have led to development novel gene therapy approaches. Furthermore, ease accessibility ocular immune privilege makes retina ideal target for therapies. In this study, nuclear hormone receptor Nr2e3 was evaluated efficacy broad-spectrum attenuate early intermediate stages degeneration five unique mouse models retinitis pigmentosa (RP). RP is a...
Neurodegenerative diseases affecting the macula constitute a major cause of incurable vision loss and exhibit considerable clinical genetic heterogeneity, from early-onset monogenic disease to multifactorial late-onset age-related macular degeneration (AMD). As part our continued efforts define causes degeneration, we performed whole exome sequencing in four individuals two-generation family with autosomal dominant maculopathy identified rare variant p.Glu1144Lys Fibrillin 2 (FBN2),...
To determine genetic variants associated with severe retinopathy of prematurity (ROP) in a candidate gene cohort study US preterm infants.Preterm infants the discovery were enrolled through Eunice Kennedy Shriver National Institute Child Health and Human Development Neonatal Research Network, those replication from University Iowa. All phenotyped for ROP severity. Because differences durations enrollment between cohorts, was defined as threshold disease or type 1 cohort. Whole genome...