A5052522653- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Connexins and lens biology
- RNA and protein synthesis mechanisms
- RNA modifications and cancer
- Retinal Imaging and Analysis
- Ubiquitin and proteasome pathways
- Ocular Disorders and Treatments
- Electron and X-Ray Spectroscopy Techniques
- Advanced Electron Microscopy Techniques and Applications
- Cellular Mechanics and Interactions
- Advanced Glycation End Products research
- Corneal Surgery and Treatments
- Retinal and Macular Surgery
- Biochemical effects in animals
- Heat shock proteins research
- Advanced biosensing and bioanalysis techniques
- Retinal and Optic Conditions
- Bacteriophages and microbial interactions
- Retinopathy of Prematurity Studies
- Intraocular Surgery and Lenses
- Bacterial Genetics and Biotechnology
- Photoreceptor and optogenetics research
- Corneal surgery and disorders
- Glaucoma and retinal disorders
National Eye Institute
2014-2025
Office of the Director
2013-2025
National Institutes of Health
2000-2025
Office of the Director
2018-2020
Foundation Fighting Blindness
1999-2001
McCormick (United States)
1999
Brookhaven National Laboratory
1991-1994
Roche (United States)
1994
La Roche College
1989-1992
Rensselaer Polytechnic Institute
1989-1990
Genomic studies in age-related macular degeneration (AMD) have identified genetic variants that account for the majority of AMD risk. An important next step is to understand functional consequences and downstream effects AMD-associated variants. Instrumental this are 'omics' technologies, which enable high-throughput characterization quantification biological molecules, subsequent integration genomics with these omics datasets, a field referred as systems genomics. Single cell sequencing...
To screen samples from patients with presumed autosomal dominant retinitis pigmentosa (adRP) for mutations in 12 disease genes as a contribution to the research and treatment goals of National Ophthalmic Disease Genotyping Phenotyping Network (eyeGENE).DNA were obtained eyeGENE. A total 170 probands an intake diagnosis adRP tested through enrollment The 10 most common causing (IMPDH1, KLHL7, NR2E3, PRPF3/RP18, PRPF31/RP11, PRPF8/RP13, PRPH2/RDS, RHO, RP1, TOPORS) chosen PCR-based dideoxy...
Ciliary neurotrophic factor (CNTF) protects rod photoreceptors from retinal degenerative disease in multiple nonhuman models. Thus far, CNTF has failed to demonstrate protection trials for human retinitis pigmentosa. Recently, was found improve cone photoreceptor function a canine CNGB3 achromatopsia model. This study explores whether this finding translates humans with achromatopsia.A five-subject, open-label Phase I/II initiated by implanting intraocular microcapsules releasing (nominally...
Abstract Genetic testing in a multisite clinical trial network for inherited eye conditions is described this retrospective review of data collected through eyeGENE®, the National Ophthalmic Disease Genotyping and Phenotyping Network. Participants eyeGENE were enrolled providers throughout United States Canada. Blood samples to establish phenotype:genotype database, biorepository, patient registry. Data are available research use, participants provided results genetic testing. utilized...
Molecular variant interpretation lacks disease gene-specific cohorts for determining enrichment in versus healthy populations. To address the molecular etiology of retinal degeneration, specifically PRPH2-related retinopathies, we reviewed genotype and phenotype information obtained from 187 eyeGENE® participants 161 families. Clinical details were provided by referring clinicians participating Network. The cohort was sequenced variants PRPH2. Variant complementary DNA clusters frequency...
Retinal dystrophy (RD) is a broad group of hereditary disorders with heterogeneous genotypes and phenotypes. Current available genetic testing for these diseases complicated, time consuming, expensive. This study was conducted to develop apply microarray-based, high-throughput resequencing system detect sequence alterations in genes related inherited RD.A customized 300-kb chip, Retina-Array, developed 267,550 bases both sense antisense 1470 exons spanning 93 involved RD. Retina-Array...
Purpose: To report the variants and genotype–phenotype correlations in patients with familial exudative vitreoretinopathy (FEVR) included eyeGENE database. Methods: A retrospective study was conducted a cohort of 122 from 114 families FEVR. Clinical details genetic test results were provided by referring clinicians clinical laboratories network, respectively. Genotype phenotype information reviewed, reported reclassified. Results: Genetic reports 50 probands revealed 52 four genes...
To analyze the genetic test results of probands referred to eyeGENE with a diagnosis hereditary maculopathy.Patients Best macular dystrophy (BMD), Doyne honeycomb retinal (DHRD), Sorsby fundus (SFD), or late-onset degeneration (LORD) were screened for mutations in BEST1, EFEMP1, TIMP3, and CTRP5, respectively. Patients pattern (PD) PRPH2, ELOVL4, ABCA4; patients cone-rod (CRD) CRX, ABCA4, c.2513G>A p.Arg838His variant GUCY2D. Mutation analysis was performed by dideoxy sequencing. Impact...
Over 1,500 variants in the ABCA4 locus cause phenotypes ranging from severe, early-onset retinal degeneration to very late-onset maculopathies. The resulting ABCA4/Stargardt disease is most prevalent Mendelian eye disorder, although its underlying clinical heterogeneity, including penetrance of many alleles, are not well-understood. We hypothesized that a share this complexity explained by trans-modifiers, i.e., unlinked loci, which currently unknown. sought identify these performing exome...
We have partially purified two 16S rRNA-specific methyltransferases, one of which forms m 2 gse ( GMT), while the other makes 5 C967 (m C RAT). The G RAT uses unmethylated 30S subunits as a substrate, but not free rRNA, RflT functions reciprocally, using rRNA (Negre, D., Weitzmann, C. and Ofengand, J. (1990) UCLA Symposium: Nucleic Acid itfethylation (Alan Liss, New York), pp. 1–17). now determined basis for this unusual inverse specificity at adjacent nucleotides. Binding ribosomal proteins...
Molecular genetics and genomics are revolutionizing the study treatment of inherited eye diseases. In recognition impact molecular on vision ophthalmology, National Eye Institute established Ophthalmic Disease Genotyping Phenotyping Network (eyeGENE®) as a multidirectional research initiative whereby clinical component for patients diagnosed with disease fosters into causes mechanisms these ophthalmic This is accomplished by broadening access to genetic diagnostic testing maintaining...
Dichotomies are double-edged: they can simplify and enlighten as well exaggerate entangle. Seeing the eye anterior segment vs. posterior simplifies formidable task of dissecting function eye. Yet this view creates artificial divisions in a coherent whole. Clearly, vision requires convergence light refractive front with sensing back The National Eye Institute has long aimed to foster research across visual pathway. Finding right balance is constant work progress. A recently held scientific...
Protein-nucleic acid interactions involved in the assembly process of Escherichia coli 30S ribosomal subunit were quantitatively analyzed by high-resolution scanning transmission electron microscopy. The vitro reconstituted ribonucleoprotein (core) particles characterized their morphology, mass, and radii gyration. During subunit, 16S rRNA underwent significant conformational changes that governed cooperative proteins. sequential association first 12 proteins with resulted formation core...
Transgenic mice, homozygous for HIV-1 protease expression in the eye lens, display degradation of some lens crystallins and cytoskeletal proteins prior to cataract formation on postnatal days 23-25. Alterations internal hydration state also occur; therefore, status aquaporin protein MIP26 was examined over 16-25 determine if it altered during cataractogenesis. The MIP identical transgenic control lenses until day 21. By 25 (frank cataract), obtained from animals, 26-kDa band absent there a...