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4. Diverse clinical phenotypes associated with a nonsense mutation in FAM161A

Author

Rose, AM, Sergouniotis, P, Alfano, G, Muspratt-Tucker, N, Barton, S, Moore, AT, Black, G, Bhattacharya, SS, and Webster, AR

Subjects
Biomedical and Clinical Sciences, Ophthalmology and Optometry, Genetics, Clinical Research, Eye Disease and Disorders of Vision, Rare Diseases, Neurodegenerative, Neurosciences, Aetiology, 2.1 Biological and endogenous factors, Adult, Asian People, Codon, Nonsense, Cohort Studies, Eye Proteins, Female, Genes, Recessive, Genetic Predisposition to Disease, Haplotypes, Homozygote, Humans, Male, Middle Aged, Mutation, Missense, Pedigree, Prevalence, Retinitis Pigmentosa, United Kingdom, Visual Acuity, White People, Clinical Sciences, Immunology, Opthalmology and Optometry, Ophthalmology & Optometry, Ophthalmology and optometry
Abstract

PurposeMutations in the FAM161A gene have been reported in association with autosomal recessive retinitis pigmentosa (arRP) in several ethnic populations. This study aimed to assess the prevalence of FAM161A-related retinopathy in a British cohort and to characterise the phenotype associated with mutations in this gene.MethodsThe FAM161A coding region and intron-exon boundaries were screened by Sanger sequencing in 120 retinitis pigmentosa (RP) patients (with likely autosomal recessive inheritance) in whom mutations in other known major RP genes have been ruled out by commercially available testing. Homozygosity mapping was performed in one consanguineous family, and high-throughput sequencing of candidate genes was performed to identify disease-associated changes. Clinical assessment of affected individuals included perimetry testing, fundus autofluorescence imaging, and optical coherence tomography.ResultsTwo patients of British origin with a homozygous mutation in FAM161A (c.1309A>T, p.Arg437*) were identified by Sanger sequencing. Homozygosity mapping and subsequent high-throughput sequencing analysis identified a further family of Pakistani origin with the same genotype. Clinical examination of affected members of these families revealed that this mutation was associated with a diverse clinical phenotype, ranging from mild disease with preservation of central acuity to severe visual impairment.ConclusionsHomozygosity for the c.1309A>T, p.Arg437* variant in FAM161A is a relatively common cause of arRP. The mutation occurs in diverse ethnic populations, associated with typical retinitis pigmentosa with disease onset usually in the second or third decade of life.

Published
2015

9. An immunogenetic study of susceptibility to leprosy and tuberculosis in a Brazilian population

Author

Black, G. F.

Subjects
616.042
Abstract

Human 5q23-32 contains a cluster of genes (IL3/4/5/9) for interleukins commonly associated with disease exacerbatory T helper 2 immune responses in mycobacterial infections. Human 17q11.2-q12 contains the gene (NOS2A) encoding macrophage-expressed inducible nitric oxide synthase (iNOS), which generates toxic nitric oxide for antimicrobial activity, and an array of genes (SCYA1/2/5) encoding small inducible chemokines which act as monocyte chemoattractants and are involved in inflammatory responses. To study the role of these two regions in human disease susceptibility, DNA from a series of 40 multicase leprosy (220 individuals) and 48 multicase TB (402 individuals) families were genotyped for microsatellite, variable number tandem repeat, or restriction fragment length polymorphisms within or adjacent to the candidate gene regions. In addition to clinical disease phenotypes, results of immunological assays (T cell proliferation and interferon-γ cytokine responses to mycobacterial antigens) were used to ascertain responder/nonresponder phenotypes for genetic analysis. A sub-set of families were also examined to ascertain whether polymorphism at the IL-4 locus influenced IL-4 production in response to non-specific stimulation. The results of this work show that in this Brazilian population genes in the region of 17q11.2-q12 may have some influence over the control of susceptibility to TB. Although there is no evidence that genes in the 5q23-q32 region are involved in susceptibility to TB or leprosy per se, results indicate that this region may play a role in controlling both T-cell proliferative and IFN-γ production responses to antigenic stimulation. Results also demonstrate a possible association between a homozygous IL-4 genotype and low IL-4 production.

Published
1997

10. The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

Author

Black G. C., Sergouniotis P., Sodi A., Leroy B. P., Van Cauwenbergh C., Liskova P., Gronskov K., Klett A., Kohl S., Taurina G., Sukys M., Haer-Wigman L., Nowomiejska K., Marques J. P., Leroux D., Cremers F. P. M., De Baere E., Dollfus H., Ashworth J., Audo I., Bacci G., Balciuniene V. J., Bargiacchi S., Bertelsen M., Black G., Boon C., Bremond-Gignac D., Buzzonetti L., Calvas P., Thomsen A. C., Chirita-Emandi A., Chokoshvili D., Cremers F., Daly A., Downes S., Fasolo A., Fasser C., Fischer D., Fortunato P., Gelzinis A., Hall G., Hamann S., Heon E., Iarossi G., Iberg C., Jouanjan G., Kaariainen H., Kahn K., Keegan D., Laengsfeld M., Leon A., Leroux B., Lorenz B., Maggi R., Mauring L., Melico P., Meunier I., Mohand-Said S., Monterosso C., Morandi P., Parmeggiani F., Passerini I., Pelletier V., Peluso F., Perdomo Y., Rapizzi E., Roos L., Roosing S., Rozet J. -M., Simonelli F., Sowden J., Stingl K., Suppiej A., Testa F., Tracewska A., Traficante G., Valeina S., Wheeler-Schilling T., Yu-Wai-Man P., Zeitz C., Zemaitiene R., Leroux, Dorothée [0000-0002-1412-6611], Apollo - University of Cambridge Repository, Ophthalmology, ANS - Complex Trait Genetics, Black, G. C., Sergouniotis, P., Sodi, A., Leroy, B. P., Van Cauwenbergh, C., Liskova, P., Gronskov, K., Klett, A., Kohl, S., Taurina, G., Sukys, M., Haer-Wigman, L., Nowomiejska, K., Marques, J. P., Leroux, D., Cremers, F. P. M., De Baere, E., Dollfus, H., Ashworth, J., Audo, I., Bacci, G., Balciuniene, V. J., Bargiacchi, S., Bertelsen, M., Black, G., Boon, C., Bremond-Gignac, D., Buzzonetti, L., Calvas, P., Thomsen, A. C., Chirita-Emandi, A., Chokoshvili, D., Cremers, F., Daly, A., Downes, S., Fasolo, A., Fasser, C., Fischer, D., Fortunato, P., Gelzinis, A., Hall, G., Hamann, S., Heon, E., Iarossi, G., Iberg, C., Jouanjan, G., Kaariainen, H., Kahn, K., Keegan, D., Laengsfeld, M., Leon, A., Leroux, B., Lorenz, B., Maggi, R., Mauring, L., Melico, P., Meunier, I., Mohand-Said, S., Monterosso, C., Morandi, P., Parmeggiani, F., Passerini, I., Pelletier, V., Peluso, F., Perdomo, Y., Rapizzi, E., Roos, L., Roosing, S., Rozet, J. -M., Simonelli, F., Sowden, J., Stingl, K., Suppiej, A., Testa, F., Tracewska, A., Traficante, G., Valeina, S., Wheeler-Schilling, T., Yu-Wai-Man, P., Zeitz, C., and Zemaitiene, R.

Subjects
0301 basic medicine, Eye Diseases, lcsh:Medicine, CHILDREN, Position statement, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], MOLECULAR-GENETICS, 0302 clinical medicine, HISTORY, Health care, Medicine and Health Sciences, Genetics(clinical), Pharmacology (medical), Child, Genetics (clinical), medicine.diagnostic_test, General Medicine, Genomics, Europe, TRIALS, ERN-EYE, Rare eye diseases, medicine.symptom, Genetic and genomic testing, Human, medicine.medical_specialty, Visual impairment, LEBER CONGENITAL AMAUROSIS, Socio-culturale, DIAGNOSIS, 03 medical and health sciences, Rare Diseases, medicine, Humans, Genetic Testing, Intensive care medicine, Genetic testing, business.industry, CLINICAL-FEATURES, lcsh:R, Rare eye disease, Eye Disease, Human genetics, Clinical trial, 030104 developmental biology, Genomic, 030221 ophthalmology & optometry, Personalized medicine, business, Rare disease
Abstract

Background Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively prevalent disorders such as retinitis pigmentosa to very rare entities such as developmental eye anomalies. A significant number of patients with RED have an underlying genetic etiology. One of the aims of the European Reference Network for Rare Eye Diseases (ERN–EYE) is to facilitate improvement in diagnosis of RED in European member states. Main body Technological advances have allowed genetic and genomic testing for RED. The outcome of genetic testing allows better understanding of the condition and allows reproductive and therapeutic options. The increase of the number of clinical trials for RED has provided urgency for genetic testing in RED. A survey of countries participating in ERN-EYE demonstrated that the majority are able to access some forms of genomic testing. However, there is significant variability, particularly regarding testing as part of clinical service. Some countries have a well-delineated rare disease pathway and have a national plan for rare diseases combined or not with a national plan for genomics in medicine. In other countries, there is a well-established organization of genetic centres that offer reimbursed genomic testing of RED and other rare diseases. Clinicians often rely upon research-funded laboratories or private companies. Notably, some member states rely on cross-border testing by way of an academic research project. Consequently, many clinicians are either unable to access testing or are confronted with long turnaround times. Overall, while the cost of sequencing has dropped, the cumulative cost of a genomic testing service for populations remains considerable. Importantly, the majority of countries reported healthcare budgets that limit testing. Short conclusion Despite technological advances, critical gaps in genomic testing remain in Europe, especially in smaller countries where no formal genomic testing pathways exist. Even within larger countries, the existing arrangements are insufficient to meet the demand and to ensure access. ERN-EYE promotes access to genetic testing in RED and emphasizes the clinical need and relevance of genetic testing in RED.

Published
2021

12. UK Biobank retinal imaging grading: methodology, baseline characteristics and findings for common ocular diseases

Author

Warwick, Alasdair N., Curran, Katie, Hamill, Barbra, Stuart, Kelsey, Khawaja, A., Foster, Paul J., Lotery, Andrew J., Quinn, Michael, Madhusudhan, Savita, Balaskas, Konstantinos, Peto, Tunde, Allen, N., Aslam, T., Atan, D., Barman, S., Barrett, J., Bishop, P., Black, G., Braithwaite, T., Carare, R., Chakravarthy, U., Chan, M., Chua, S., Day, A., Desai, P., Dhillon, B., Dick, A., Doney, A., Egan, C., Ennis, S., Foster, P., Fruttiger, M., Gallacher, J., Garway-Heath, D., Gibson, J., Hammond, C., Hardcastle, A., Harding, S., Moore, T., Morgan, J., Owen, C., Patel, P., Self, J., Stratton, I., Sun, Z., Thomas, D., Williams, K., Williams, C., Zheng, Y., Neurology, Ophthalmology, APH - Mental Health, APH - Methodology, and Amsterdam Neuroscience - Neuroinfection & -inflammation

Subjects
Ophthalmology, SDG 3 - Good Health and Well-being
Abstract

Background/objectives This study aims to describe the grading methods and baseline characteristics for UK Biobank (UKBB) participants who underwent retinal imaging in 2009–2010, and to characterise individuals with retinal features suggestive of age-related macular degeneration (AMD), glaucoma and retinopathy. Methods Non-mydriatic colour fundus photographs and macular optical coherence tomography (OCT) scans were manually graded by Central Administrative Research Facility certified graders and quality assured by clinicians of the Network of Ophthalmic Reading Centres UK. Captured retinal features included those associated with AMD (≥1 drusen, pigmentary changes, geographic atrophy or exudative AMD; either imaging modality), glaucoma (≥0.7 cup-disc ratio, ≥0.2 cup-disc ratio difference between eyes, other abnormal disc features; photographs only) and retinopathy (characteristic features of diabetic retinopathy with or without microaneurysms; either imaging modality). Suspected cases of these conditions were characterised with reference to diagnostic records, physical and biochemical measurements. Results Among 68,514 UKBB participants who underwent retinal imaging, the mean age was 57.3 years (standard deviation 8.2), 45.7% were men and 90.6% were of White ethnicity. A total of 64,367 participants had gradable colour fundus photographs and 68,281 had gradable OCT scans in at least one eye. Retinal features suggestive of AMD and glaucoma were identified in 15,176 and 2184 participants, of whom 125 (0.8%) and 188 (8.6%), respectively, had a recorded diagnosis. Of 264 participants identified to have retinopathy with microaneurysms, 251 (95.1%) had either diabetes or hypertension. Conclusions This dataset represents a valuable addition to what is currently available in UKBB, providing important insights to both ocular and systemic health.

Published
2022

15. Fractures of the Ankle

Author

Reed, Martin H., Black, G. Brian, Medina, L. Santiago, editor, Applegate, Kimberly E., editor, and Blackmore, C. Craig, editor

Published
2010
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17. Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study

Author

Reetz, K, Dogan, I, Hilgers, R, Giunti, P, Parkinson, M, Mariotti, C, Nanetti, L, Durr, A, Ewenczyk, C, Boesch, S, Nachbauer, W, Klopstock, T, Stendel, C, Rodriguez de Rivera Garrido, F, Rummey, C, Schols, L, Hayer, S, Klockgether, T, Giordano, I, Didszun, C, Rai, M, Pandolfo, M, Schulz, J, Labrum, R, Thomas-Black, G, Manso, K, Solanky, N, Gellera, C, Mongelli, A, Castaldo, A, Fichera, M, Palau, F, O'Callaghan, M, Biet, M, Monin, M, Eigentler, A, Indelicato, E, Amprosi, M, Radelfahr, F, Bischoff, A, Holtbernd, F, Brcina, N, Hohenfeld, C, Koutsis, G, Breza, M, Bertini, E, Vasco, G, Reetz K., Dogan I., Hilgers R. -D., Giunti P., Parkinson M. H., Mariotti C., Nanetti L., Durr A., Ewenczyk C., Boesch S., Nachbauer W., Klopstock T., Stendel C., Rodriguez de Rivera Garrido F. J., Rummey C., Schols L., Hayer S. N., Klockgether T., Giordano I., Didszun C., Rai M., Pandolfo M., Schulz J. B., Labrum R., Thomas-Black G., Manso K., Solanky N., Gellera C., Mongelli A., Castaldo A., Fichera M., Palau F., O'Callaghan M., Biet M., Monin M. L., Eigentler A., Indelicato E., Amprosi M., Radelfahr F., Bischoff A. T., Holtbernd F., Brcina N., Hohenfeld C., Koutsis G., Breza M., Bertini E., Vasco G., Reetz, K, Dogan, I, Hilgers, R, Giunti, P, Parkinson, M, Mariotti, C, Nanetti, L, Durr, A, Ewenczyk, C, Boesch, S, Nachbauer, W, Klopstock, T, Stendel, C, Rodriguez de Rivera Garrido, F, Rummey, C, Schols, L, Hayer, S, Klockgether, T, Giordano, I, Didszun, C, Rai, M, Pandolfo, M, Schulz, J, Labrum, R, Thomas-Black, G, Manso, K, Solanky, N, Gellera, C, Mongelli, A, Castaldo, A, Fichera, M, Palau, F, O'Callaghan, M, Biet, M, Monin, M, Eigentler, A, Indelicato, E, Amprosi, M, Radelfahr, F, Bischoff, A, Holtbernd, F, Brcina, N, Hohenfeld, C, Koutsis, G, Breza, M, Bertini, E, Vasco, G, Reetz K., Dogan I., Hilgers R. -D., Giunti P., Parkinson M. H., Mariotti C., Nanetti L., Durr A., Ewenczyk C., Boesch S., Nachbauer W., Klopstock T., Stendel C., Rodriguez de Rivera Garrido F. J., Rummey C., Schols L., Hayer S. N., Klockgether T., Giordano I., Didszun C., Rai M., Pandolfo M., Schulz J. B., Labrum R., Thomas-Black G., Manso K., Solanky N., Gellera C., Mongelli A., Castaldo A., Fichera M., Palau F., O'Callaghan M., Biet M., Monin M. L., Eigentler A., Indelicato E., Amprosi M., Radelfahr F., Bischoff A. T., Holtbernd F., Brcina N., Hohenfeld C., Koutsis G., Breza M., Bertini E., and Vasco G.

Abstract

Background: The European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) investigates the natural history of Friedreich's ataxia. We aimed to assess progression characteristics and to identify patient groups with differential progression rates based on longitudinal 4-year data to inform upcoming clinical trials in Friedreich's ataxia. Methods: EFACTS is a prospective, observational cohort study based on an ongoing and open-ended registry. Patients with genetically confirmed Friedreich's ataxia were seen annually at 11 clinical centres in seven European countries (Austria, Belgium, France, Germany, Italy, Spain, and the UK). Data from baseline to 4-year follow-up were included in the current analysis. Our primary endpoints were the Scale for the Assessment and Rating of Ataxia (SARA) and the activities of daily living (ADL). Linear mixed-effect models were used to analyse annual disease progression for the entire cohort and subgroups defined by age of onset and ambulatory abilities. Power calculations were done for potential trial designs. This study is registered with ClinicalTrials.gov, NCT02069509. Findings: Between Sept 15, 2010, and Nov 20, 2018, of 914 individuals assessed for eligibility, 602 patients were included. Of these, 552 (92%) patients contributed data with at least one follow-up visit. Annual progression rate for SARA was 0·82 points (SE 0·05) in the overall cohort, and higher in patients who were ambulatory (1·12 [0·07]) than non-ambulatory (0·50 [0·07]). ADL worsened by 0·93 (SE 0·05) points per year in the entire cohort, with similar progression rates in patients who were ambulatory (0·94 [0·07]) and non-ambulatory (0·91 [0·08]). Although both SARA and ADL showed slightly greater worsening in patients with typical onset (symptom onset at ≤24 years) than those with late onset (symptom onset ≥25 years), differences in progression slopes were not significant. For a 2-year parallel-group trial, 230 (115 per group) patients would be r

Published
2021

38. Zoo Chemistry

Author

Black, G. V. (Greene Vardiman), 1836-1915.

Abstract

G.V. Black's lectures presented to a class in biochemistry

Published
2021
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39. 1915-01-25 A.D. Black to McKay

Author

Black, G. V. (Greene Vardiman), 1836-1915.

Subjects
ComputerSystemsOrganization_COMPUTER-COMMUNICATIONNETWORKS, InformationSystems_MISCELLANEOUS, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries)
Abstract

Title: A.D. Black to McKay Container: c02 id: level

Published
2021
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40. Balance of Reason

Author

Black, G. V. (Greene Vardiman), 1836-1915.

Abstract

Given as a toast at a joint meeting of the four Jacksonville, Ill. clubs (Literary Union, Sorosis, Club, and Round Table) on February 13, 1885. Includes membership rosters

Published
2021
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46. Wind and Storm

Author

Black, G. V. (Greene Vardiman), 1836-1915.

Abstract

First, second and third lectures presented before the Jacksonville, Illinois Y.M.C.A

Published
2021
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50. Lee County Texas fossil woods

Author

Black, G. V. (Greene Vardiman), 1836-1915.

Subjects
ComputingMilieux_THECOMPUTINGPROFESSION, ComputingMethodologies_IMAGEPROCESSINGANDCOMPUTERVISION, GeneralLiterature_MISCELLANEOUS, MathematicsofComputing_DISCRETEMATHEMATICS
Abstract

Multigraph reproductions of fossil woods from Lee County, Texas. A camera lucida was used to draw the images.

Published
2021
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