![Catherine Bresner](https://profiles-cardiff.imgix.net/attachments/936?w=200&h=200&auto=format&crop=faces&fit=crop&q=90")
Mrs Catherine Bresner
Research Technician, Division of Psychological Medicine and Clinical Neurosciences
Ysgol y Biowyddorau
- BresnerCM@caerdydd.ac.uk
- +44 29206 88362
- Adeilad Syr Martin Evans, Ystafell 2.01 - Desk 09, Rhodfa'r Amgueddfa, Caerdydd, CF10 3AX
Trosolwyg
Identification of variations in the genomic sequence which increase susceptibility to neurological disorders using a variety of sequencing techniques including:
- Sanger sequencing to identify Single Nucleotide Polymorhpisms (SNPs) and insertions / deletions (indels) using capillary electrophoresis
- Competitive allele specific polymerase chain reaction (KASP) using Fluorescent Resonance Energy transfer (FRET) to identify specific SNPs and indels.
- Multiplex ligation-dependent probe amplification assay (MLPA) for simultaneous detection of deletions and duplications in genes associated with disease.
- Array-based assays which provide high throughput whole genome amplification allowing almost unlimited SNP detection and copy number variation (CNV) analysis.
- Epigenetic investigation using array-based methylation assays.
Cyhoeddiad
2023
- Real, R. et al. 2023. Association between the LRP1B and APOE loci in the development of Parkinson’s disease dementia. Brain 146(5), pp. 1873-1887. (10.1093/brain/awac414)
- Winchester, L. et al. 2023. Identification of a possible proteomic biomarker in Parkinson’s disease: discovery and replication in blood, brain and cerebrospinal fluid. Brain Communications 5(1), article number: fcac343. (10.1093/braincomms/fcac343)
2022
- Willett, B. J. et al. 2022. SARS-CoV-2 Omicron is an immune escape variant with an altered cell entry pathway. Nature Microbiology 7, pp. 1161-1179. (10.1038/s41564-022-01143-7)
- Eales, O. et al. 2022. SARS-CoV-2 lineage dynamics in England from September to November 2021: high diversity of Delta sub-lineages and increased transmissibility of AY.4.2. BMC Infectious Diseases 22(1), article number: 647. (10.1186/s12879-022-07628-4)
- Nickbakhsh, S. et al. 2022. Genomic epidemiology of SARS-CoV-2 in a university outbreak setting and implications for public health planning. Scientific Reports 12(1), article number: 11735. (10.1038/s41598-022-15661-1)
- Kläser, K. et al. 2022. COVID-19 due to the B.1.617.2 (Delta) variant compared to B.1.1.7 (Alpha) variant of SARS-CoV-2: a prospective observational cohort study. Scientific Reports 12(1), article number: 10904. (10.1038/s41598-022-14016-0)
- Bellenguez, C. et al. 2022. New insights into the genetic etiology of Alzheimer's disease and related dementias. Nature Genetics 54(4), pp. 412-436. (10.1038/s41588-022-01024-z)
- Aggarwal, D. et al. 2022. Genomic assessment of quarantine measures to prevent SARS-CoV-2 importation and transmission. Nature Communications 13, article number: 1012. (10.1038/s41467-022-28371-z)
- Aggarwal, D. et al. 2022. Genomic epidemiology of SARS-CoV-2 in a UK university identifies dynamics of transmission. Nature Communications 13(1), article number: 751. (10.1038/s41467-021-27942-w)
2021
- de Rojas, I. et al. 2021. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nature Communications 12(1), article number: 3417. (10.1038/s41467-021-22491-8)
- Lythgoe, K. A. et al. 2021. SARS-CoV-2 within-host diversity and transmission. Science 372(6539), article number: eabg0821. (10.1126/science.abg0821)
- Davies, N. G. et al. 2021. Estimated transmissibility and impact of SARS-CoV-2 lineage B.1.1.7 in England. Science 372(6538), article number: eabg3055. (10.1126/science.abg3055)
- Tan, M. M. et al. 2021. Genome-wide association studies of cognitive and motor progression in Parkinson's disease. Movement Disorders 36(2), pp. 424-433. (10.1002/mds.28342)
2020
- Alm, E. et al. 2020. Geographical and temporal distribution of SARS-CoV-2 clades in the WHO European Region, January to June 2020. Eurosurveillance 25(32), article number: 2001410. (10.2807/1560-7917.ES.2020.25.32.2001410)
2019
- Tan, M. M. et al. 2019. Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study. Brain 142(9), pp. 2828-2844. (10.1093/brain/awz191)
2018
- Malek, N. et al. 2018. Features of GBA-associated Parkinson's disease at presentation in the UK Tracking Parkinson's study. Journal of Neurology, Neurosurgery and Psychiatry 89(7), pp. 702-709. (10.1136/jnnp-2017-317348)
2016
- Malek, N. et al. 2016. Olfaction in Parkin single and compound heterozygotes in a cohort of young onset Parkinson's disease patients. Acta Neurologica Scandinavica 134(4), pp. 271-276. (10.1111/ane.12538)
2015
- Malek, N. et al. 2015. Tracking Parkinson's: study design and baseline patient data. Journal of Parkinson's Disease 5(4), pp. 947-959. (10.3233/JPD-150662)
Articles
- Real, R. et al. 2023. Association between the LRP1B and APOE loci in the development of Parkinson’s disease dementia. Brain 146(5), pp. 1873-1887. (10.1093/brain/awac414)
- Winchester, L. et al. 2023. Identification of a possible proteomic biomarker in Parkinson’s disease: discovery and replication in blood, brain and cerebrospinal fluid. Brain Communications 5(1), article number: fcac343. (10.1093/braincomms/fcac343)
- Willett, B. J. et al. 2022. SARS-CoV-2 Omicron is an immune escape variant with an altered cell entry pathway. Nature Microbiology 7, pp. 1161-1179. (10.1038/s41564-022-01143-7)
- Eales, O. et al. 2022. SARS-CoV-2 lineage dynamics in England from September to November 2021: high diversity of Delta sub-lineages and increased transmissibility of AY.4.2. BMC Infectious Diseases 22(1), article number: 647. (10.1186/s12879-022-07628-4)
- Nickbakhsh, S. et al. 2022. Genomic epidemiology of SARS-CoV-2 in a university outbreak setting and implications for public health planning. Scientific Reports 12(1), article number: 11735. (10.1038/s41598-022-15661-1)
- Kläser, K. et al. 2022. COVID-19 due to the B.1.617.2 (Delta) variant compared to B.1.1.7 (Alpha) variant of SARS-CoV-2: a prospective observational cohort study. Scientific Reports 12(1), article number: 10904. (10.1038/s41598-022-14016-0)
- Bellenguez, C. et al. 2022. New insights into the genetic etiology of Alzheimer's disease and related dementias. Nature Genetics 54(4), pp. 412-436. (10.1038/s41588-022-01024-z)
- Aggarwal, D. et al. 2022. Genomic assessment of quarantine measures to prevent SARS-CoV-2 importation and transmission. Nature Communications 13, article number: 1012. (10.1038/s41467-022-28371-z)
- Aggarwal, D. et al. 2022. Genomic epidemiology of SARS-CoV-2 in a UK university identifies dynamics of transmission. Nature Communications 13(1), article number: 751. (10.1038/s41467-021-27942-w)
- de Rojas, I. et al. 2021. Common variants in Alzheimer's disease and risk stratification by polygenic risk scores. Nature Communications 12(1), article number: 3417. (10.1038/s41467-021-22491-8)
- Lythgoe, K. A. et al. 2021. SARS-CoV-2 within-host diversity and transmission. Science 372(6539), article number: eabg0821. (10.1126/science.abg0821)
- Davies, N. G. et al. 2021. Estimated transmissibility and impact of SARS-CoV-2 lineage B.1.1.7 in England. Science 372(6538), article number: eabg3055. (10.1126/science.abg3055)
- Tan, M. M. et al. 2021. Genome-wide association studies of cognitive and motor progression in Parkinson's disease. Movement Disorders 36(2), pp. 424-433. (10.1002/mds.28342)
- Alm, E. et al. 2020. Geographical and temporal distribution of SARS-CoV-2 clades in the WHO European Region, January to June 2020. Eurosurveillance 25(32), article number: 2001410. (10.2807/1560-7917.ES.2020.25.32.2001410)
- Tan, M. M. et al. 2019. Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study. Brain 142(9), pp. 2828-2844. (10.1093/brain/awz191)
- Malek, N. et al. 2018. Features of GBA-associated Parkinson's disease at presentation in the UK Tracking Parkinson's study. Journal of Neurology, Neurosurgery and Psychiatry 89(7), pp. 702-709. (10.1136/jnnp-2017-317348)
- Malek, N. et al. 2016. Olfaction in Parkin single and compound heterozygotes in a cohort of young onset Parkinson's disease patients. Acta Neurologica Scandinavica 134(4), pp. 271-276. (10.1111/ane.12538)
- Malek, N. et al. 2015. Tracking Parkinson's: study design and baseline patient data. Journal of Parkinson's Disease 5(4), pp. 947-959. (10.3233/JPD-150662)
Ymchwil
Yn ddiweddar, rwyf wedi cymryd rhan yn y Ganolfan Genom yn Ysgol y Biowyddorau Caerdydd, gan gynhyrchu data dilyniannu'r Genhedlaeth Nesaf ar gyfer ystod amrywiol o brosiectau o fiofeddygaeth i ecoleg.
Fel Rheolwr Ymchwil gyda Grŵp Ymchwil Clefyd Alzheimer, roeddwn yn ymwneud â llawer o brosiectau yn ymwneud ag ymchwil Alzheimer a Dementia, ym Mhrifysgol Caerdydd a hefyd cydweithrediadau rhyngwladol mawr.
Cyn fy rôl reoli, ymchwiliodd fy mhrosiectau ymchwil i sylfaen genetig clefyd Parkinson, lle defnyddiais ystod amrywiol o dechnegau cymhleth er mwyn cynhyrchu data biolegol o ansawdd uchel a ddefnyddir wedyn ar gyfer dadansoddi ystadegol.
Bywgraffiad
2010 - present: Cardiff University School of Medicine, Senior Technician (Neurodegeneneration)
Anrhydeddau a dyfarniadau
Gwyddonydd Cofrestredig (RSci), a ddyfarnwyd gan y Cyngor Gwyddoniaeth (2018)
Aelodaethau proffesiynol
Aelod o'r Sefydliad Gwyddoniaeth a Thechnoleg