Rinki Ratnapriya
A5060344108- Retinal Diseases and Treatments
- Retinal Imaging and Analysis
- Retinal Development and Disorders
- Genetic Associations and Epidemiology
- Glaucoma and retinal disorders
- RNA regulation and disease
- Genomics and Rare Diseases
- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Retinoids in leukemia and cellular processes
- CRISPR and Genetic Engineering
- Cellular transport and secretion
- Retinal and Optic Conditions
- Connexins and lens biology
- Photoreceptor and optogenetics research
- Ocular Diseases and Behçet’s Syndrome
- Single-cell and spatial transcriptomics
- interferon and immune responses
- Ophthalmology and Visual Impairment Studies
- Mosquito-borne diseases and control
- Antioxidant Activity and Oxidative Stress
- Ocular Surface and Contact Lens
- Lipid metabolism and disorders
- Complement system in diseases
- Neuroscience and Neuropharmacology Research
Baylor College of Medicine
2020-2025
National Institutes of Health
2014-2024
National Eye Institute
2014-2024
Jawaharlal Nehru Centre for Advanced Scientific Research
2007-2010
Family- and population-based genetic studies have successfully identified multiple disease-susceptibility loci for Age-related macular degeneration (AMD), one of the first batch most successful examples genome-wide association study. However, to date focused on case-control late AMD (choroidal neovascularization or geographic atrophy). The influences disease progression are largely unexplored. We assembled unique resources perform a bivariate time-to-event analysis test time-to-late-AMD with...
DNA methylation provides a crucial epigenetic mark linking genetic variations to environmental influence. We have analyzed array-based profiles of 160 human retinas with co-measured RNA-seq and >8 million variants, uncovering sites regulation in cis (37,453 quantitative trait loci 12,505 expression loci) 13,747 affecting gene expression, over one-third specific the retina. Methylation show non-random distribution enrichment biological processes related synapse, mitochondria, catabolism....
Abstract Whole exome sequencing (WES) is a powerful technique for identifying sequence changes in the human genome. The goal of this study was to delineate genetic defects patients with inherited retinal diseases (IRDs) using WES. WES performed on 90 patient DNA samples from 68 families and 226 known genes IRDs were analyzed. Sanger used validate potential pathogenic variants that also subjected segregation analysis families. Thirty-three causative mutations (19 novel 14 known) 25 identified...
Leber congenital amaurosis (LCA) encompasses a set of early-onset blinding diseases that are characterized by vision loss, involuntary eye movement, and nonrecordable electroretinogram (ERG). At least 19 genes associated with LCA, which is typically recessive; however, mutations in homeodomain transcription factor CRX lead to an autosomal dominant form LCA. The mechanism CRX-associated LCA not understood. Here, we identified spontaneous mouse mutant frameshift mutation Crx (CrxRip). We...
Worldwide, age-related macular degeneration (AMD) is a serious threat to vision loss in individuals over 50 years of age with pooled prevalence approximately 9%. For 2020, the number people afflicted this condition estimated reach 200 million. While AMD lesions presenting as geographic atrophy (GA) show high inter-individual variability, only little known about prognostic factors. Here, we aimed elucidate contribution clinical, demographic and genetic factors on GA progression. Analyzing...
Abstract Genome-wide association studies (GWAS) for late stage age-related macular degeneration (AMD) have identified 52 independent genetic variants with genome-wide significance at 34 genomic loci. Typically, such an approach rarely results in the identification of functional implicating a defined gene disease process. We now performed transcriptome-wide study (TWAS) allowing prediction effects AMD-associated on expression. The TWAS was based genotypes 16,144 late-stage AMD cases and...
Immune cells in the exposed conjunctiva mucosa defend against environmental and microbial stresses. Expression profiling by single-cell RNA sequencing was performed to identify conjunctival immune cell populations expressing homeostatic regulatory genes. Fourteen distinct clusters were identified, including myeloid (neutrophils, monocytes, macrophages), dendritic (DC), lymphoid (B, T, γδT, ILC2, NK) lineages. Novel neutrophil [lipocalin (Lcn2) high low), MHCII
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),...
Abstract Ding et al. used data from large clinical trials to evaluate the effects of known age-related macular generation (AMD) risk variants on disease progression... Age-related degeneration is a leading cause blindness in developed world. While many AMD susceptibility have been identified, their influence progression has not elucidated. Using two trials, Age-Related Eye Disease Study (AREDS) and AREDS2, we evaluated 34 progression. In doing so, calculated eye-level time-to-late modeled...
Abstract Objective To identify the disease locus in a three‐generation south Indian family having several of its members affected with idiopathic epilepsy. Methods Genome‐wide parametric linkage analysis was performed 382 autosomal markers. Mutational positional candidate genes linked interval by direct sequencing genomic DNA from proband family. Expression human adult brain Western blotting. Results A novel epilepsy genetic on chromosome 3q13.3‐q21 identified analysis. This comprises about...
Mutations in the EYS (eyes shut homolog) gene are a common cause of autosomal recessive (ar) retinitis pigmentosa (RP). Without mammalian model human disease, there is limited understanding details disease expression and rates progression retinal degeneration. We studied clinically with chromatic static perimetry, spectral-domain optical coherence tomography (OCT), en face autofluoresence imaging, cohort 15 patients (ages 12–51 at first visit), some whom had longitudinal data function...
Ocular coloboma is a common eye malformation resulting from incomplete fusion of the optic fissure during development.Coloboma often associated with microphthalmia and/or contralateral anophthalmia.Coloboma shows extensive locus heterogeneity causative mutations identified in genes encoding developmental transcription factors or components signaling pathways.We report an ultra-rare, heterozygous frameshift mutation FZD5 (p.Ala219Glufs*49) that was independently two branches large family...