Publications by authors named "Nicole Noel"

To understand the multicellular composition of tissues, and how it is altered during development, ageing and/or disease, we must visualise the complete cellular landscape. Currently, this is hindered by our limited ability to combine multiple cellular markers. To overcome this, we adapted a highly multiplexed immunofluorescence (IF) technique called 'Iterative Bleaching Extends Multiplexity' (IBEX) to the zebrafish retina.

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Age-related vision loss caused by retinal neurodegenerative pathologies is becoming more prevalent in our ageing society. To understand the physiological and molecular impact of ageing on retinal homeostasis, we used the short-lived African turquoise killifish, a model known to naturally develop central nervous system (CNS) ageing hallmarks and vision loss. Bulk and single-cell RNA-sequencing (scRNAseq) of three age groups (6-, 12-, and 18-week-old) identified transcriptional ageing fingerprints in the killifish retina, unveiling pathways also identified in the aged brain, including oxidative stress, gliosis, and inflammageing.

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Age-related vision loss caused by retinal neurodegenerative pathologies is becoming more prevalent in our ageing society. To understand the physiological and molecular impact of ageing on retinal homeostasis, we used the short-lived African turquoise killifish, a model known to naturally develop central nervous system (CNS) ageing hallmarks and vision loss. Bulk and single-cell RNA-sequencing (scRNA-seq) of three age groups (6-, 12-, and 18-week-old) identified transcriptional ageing fingerprints in the killifish retina, unveiling pathways also identified in the aged brain, including oxidative stress, gliosis, and inflammageing.

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Pigmentary glaucoma has recently been associated with missense mutations in that are dominantly inherited and enriched in the protein's fascinating repeat domain. PMEL pathobiology is intriguing because PMEL forms amyloid in healthy eyes, and this PMEL amyloid acts to scaffold melanin deposition. This is an informative contradistinction to prominent neurodegenerative diseases where amyloid formation is neurotoxic and mutations cause a toxic gain of function called "amyloidosis".

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Motile and non-motile cilia are associated with mutually-exclusive genetic disorders. Motile cilia propel sperm or extracellular fluids, and their dysfunction causes primary ciliary dyskinesia. Non-motile cilia serve as sensory/signalling antennae on most cell types, and their disruption causes single-organ ciliopathies such as retinopathies or multi-system syndromes.

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Lack of access to affordable, accessible, over-the-counter medications and health-related items affects school attendance, academic performance, and individual health. Increasing access through innovations, such as Pharmacy Vending Machines (PhVMs), may address the burdens students face in university settings. In January 2021, two PhVMs were placed on Purdue University's campus to increase access to affordable and dependable 24/7 family planning items, cold/flu remedies, and other popular over-the-counter pharmaceuticals.

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Photoreceptor dysfunctions and degenerative diseases are significant causes of vision loss in patients, with few effective treatments available. Targeted interventions to prevent or reverse photoreceptor-related vision loss are not possible without a thorough understanding of the underlying mechanism leading to disease, which is exceedingly difficult to accomplish in the human system. Cone diseases are particularly challenging to model, as some popular genetically modifiable model animals are nocturnal with a rod-dominant visual system and cones that have dissimilarities to human cones.

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Objective(s): College-age people have the highest numbers of unintended pregnancies and pharmacies within college campuses are in a unique position to meet student needs. Our objective was to implement a pharmacist contraceptive prescribing service in a campus pharmacy and examine the service utilization.

Study Design: The Purdue University Pharmacy (Indiana, United States) implemented a pharmacist hormonal contraception prescribing service via a collaborative drug therapy management agreement with the campus student health center.

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Article Synopsis
  • Inherited retinal dystrophies (IRDs) are rare genetic disorders affecting 1 in 3000 people globally, with over 270 genes involved but many cases still lacking a known genetic cause.
  • Whole exome sequencing (WES) is used to investigate IRD patients to uncover genetic causes, and a study in Alberta, Canada explored this with ten family cases.
  • The research identified genetic causes in three families, revealing issues in known genes, and proposed two new associations with specific genetic variants linked to unique health conditions.
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: To report a case of initial cone dystrophy that advanced to a cone-rod dystrophy with homozygous variants in the gene.: Retinal structure and visual function assessments were performed using fundoscopy, spectral-domain optical coherence tomography, full field electroretinography, semi-kinetic perimetry, and Ishihara plate testing. A DNA sample was collected and sent for diagnostic molecular genetic testing with a cone-rod dystrophy panel.

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Zebrafish are an instrumental system for the generation of photoreceptor degeneration models, which can be utilized to determine underlying causes of photoreceptor dysfunction and death, and for the analysis of potential therapeutic compounds, as well as the characterization of regenerative responses. We review the wealth of information from existing zebrafish models of photoreceptor disease, specifically as they relate to currently accepted taxonomic classes of human rod and cone disease. We also highlight that rich, detailed information can be derived from studying photoreceptor development, structure, and function, including behavioural assessments and in vivo imaging of zebrafish.

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Photoreceptor disease results in irreparable vision loss and blindness, which has a dramatic impact on quality of life. Pathogenic mutations in lead to photoreceptor degenerations such as occult macular dystrophy and retinitis pigmentosa. RP1L1 is a component of the photoreceptor axoneme, the backbone structure of the photoreceptor's light-sensing outer segment.

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Retinitis pigmentosa 1-like 1 (RP1L1) is a component of the photoreceptor cilium. Pathogenic variants in RP1L1 lead to photoreceptor disease, suggesting an important role for RP1L1 in photoreceptor biology, though its exact function is unknown. To date, RP1L1 variants have been associated with occult macular dystrophy (a cone degeneration) and retinitis pigmentosa (a rod disease).

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The connectivity amongst photoreceptors is critical to their function, as it underpins lateral inhibition and effective translation of stimuli into neural signals. Despite much work characterizing second-order interneurons in the outer retina, the synapses directly connecting photoreceptors have often been overlooked. Telodendria are fine processes that connect photoreceptor pedicles.

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Hurdles in the treatment of retinal degeneration include managing the functional rewiring of surviving photoreceptors and integration of any newly added cells into the remaining second-order retinal neurons. Zebrafish are the premier genetic model for such questions, and we present two new transgenic lines allowing us to contrast vision loss and recovery following conditional ablation of specific cone types: UV or blue cones. The ablation of each cone type proved to be thorough (killing 80% of cells in each intended cone class), specific, and cell-autonomous.

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Goal-oriented thinking, including hope and self-efficacy, might play a constructive and integral role in the substance abuse recovery process, although such an effect may differ by race. The current study investigated hope and self-efficacy, specifically abstinence self-efficacy, as predictors of negative affect (i.e.

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Vitamin B12 (cobalamin, Cbl) is indispensable for proper brain development and functioning, suggesting that it has neurotrophic effects beside its well-known importance in metabolism. The molecular basis of these effects remains hypothetical, one of the reasons being that no efficient cell model has been made available for investigating the consequences of B12 cellular deficiency in neuronal cells. Here, we designed an approach by stable transfection of NIE115 neuroblastoma cells to impose the anchorage of a chimeric B12-binding protein, transcobalamin-oleosin (TO) to the intracellular membrane.

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