A5027369777- Retinal Development and Disorders
- Retinal Diseases and Treatments
- Glaucoma and retinal disorders
- CRISPR and Genetic Engineering
- RNA regulation and disease
- Connexins and lens biology
- Biochemical and Molecular Research
- Health Systems, Economic Evaluations, Quality of Life
- Advanced biosensing and bioanalysis techniques
- Genomics and Rare Diseases
- Patient-Provider Communication in Healthcare
- Virus-based gene therapy research
- Health Literacy and Information Accessibility
- Photoreceptor and optogenetics research
- Autoimmune Bullous Skin Diseases
- RNA Interference and Gene Delivery
- Skin and Cellular Biology Research
- Mercury impact and mitigation studies
- bioluminescence and chemiluminescence research
- Ethics in Clinical Research
- Retinopathy of Prematurity Studies
- Proteoglycans and glycosaminoglycans research
- Adolescent and Pediatric Healthcare
- Photochromic and Fluorescence Chemistry
- Misinformation and Its Impacts
Health Research Board
2020
Trinity College Dublin
1998-2008
Science Oxford
2005
Universidad de Salamanca
2005
Pasadena City College
2005
Bethesda University
2005
Seattle University
2005
United States Department of Justice
2005
Queen's University Belfast
2002
Comparative analysis of the transcriptional profiles approximately 6000 genes in retinas wild-type mice with those carrying a targeted disruption rhodopsin gene was undertaken by microarray analysis. This revealed series transcripts, which some were derived from known to map at retinopathy loci, levels reduced or elevated Rho–/– lacking functional photoreceptors. The human homologue one these genes, encoding inosine monophosphate dehydrogenase type 1 (IMPDH1), maps region 7q an adRP (RP10)...
The intragenic heterogeneity encountered in many dominant disease-causing genes represents a significant challenge with respect to development of economically viable therapeutics. For example, 25% autosomal retinitis pigmentosa is caused by over 100 different mutations within the gene encoding rhodopsin, each which could require unique therapy. We describe here an RNA interference (RNAi)-based mutation-independent approach, targeting as example murine rhodopsin. Native transcripts are...
Mutations within the inosine 5′-monophosphate dehydrogenase 1 (IMPDH1) gene cause RP10 form of autosomal dominant retinitis pigmentosa (adRP), an early-onset retinopathy resulting in extensive visual handicap owing to progressive death photoreceptors. Apart from prevalence RP10, estimated account for 5–10% cases adRP United States and Europe, two observations render this RP attractive target therapy. First, we show that while recombinant adeno-associated viral (AAV)-mediated expression...
Glaucoma describes a clinically and genetically heterogeneous group of diseases that result in optic neuropathy progressive loss visual fields. A gene for juvenile onset primary open angle glaucoma JOAG) has recently been mapped to 1q21-31. Mutations the trabecular meshwork induced glucocorticoid response (TIGR, also known as myocilin or GLC1A locus) have found cause both later glaucoma. Family TCD-POAG1 is Spanish kindred, which segregates JOAG an autosomal dominant fashion. This family was...
<ns4:p><ns4:bold>Background:</ns4:bold></ns4:p><ns4:p> Rare diseases are individually rare, but collectively these conditions common. Research on rare currently focused disease-specific needs rather than a life-course perspective. The Disease Partnership (RAinDRoP) was established in 2018 to bring together wide variety of diverse voices the disease community Ireland and form research partnership.</ns4:p><ns4:p> </ns4:p><ns4:p> <ns4:bold>Methods:</ns4:bold></ns4:p><ns4:p> A participatory...
Background: The Rare Disease Research Partnership (RAinDRoP) was established in 2018 to bring together a wide variety of diverse voices the rare disease community Ireland and form research partnership. This approach enabled clinicians, patients, carers researchers work identify top priorities for diseases, which focused on life-course perspective rather than disease-specific need. Methods: A participatory multiple phase used diseases. process involved three main phases: Phase I, Public...
<ns3:p><ns3:bold>Background: </ns3:bold>Few areas of health have been as insidiously influenced by misinformation cancer. Thus, interventions that can help people impacted cancer reduce the extent to which they are victims necessary. The Informed Health Choices (IHC) initiative has developed Key Concepts be used in development for evaluating trustworthiness claims about effects treatments. We developing an online education programme called Choices-Cancer (IHC-C) based on IHC Concepts. will...
The overabundance of health misinformation has undermined people's capacity to make evidence-based, informed choices about their health. Using the Informed Health Choices (IHC) Key Concepts (KCs), we are developing a two-stage education programme, Choices-Cancer (IHC-C), provide those impacted by cancer with knowledge and skills necessary think critically reliability information claims well-informed choices. Stage 1 seeks prioritise most relevant Concepts. A project group patient carer...