Kate Bresner
Senior Technician (Genome Hub)
- bresnercm@cardiff.ac.uk
- +44 (0)29 2087 4102
- Sir Martin Evans Building, Museum Avenue, Cardiff, CF10 3AX
I have worked at Cardiff University since 2010. Within my current role I am responsible for the generation of high-quality Next-Generation sequencing data for a diverse range of projects from biomedicine to ecology.
My previous role was Research Manager for the Alzheimer's Research Group, I was responsible for the operation of the Alzheimer’s Disease Genetics Team, planning, organising and delivering projects both within the University and in collaboration with world-renowned scientists. I was also responsible for a large part of research funding and grant management and provided professional advice and guidance on research sample management and Human Tissue Act compliance processes and procedures.
Prior to my management role, I was primarily laboratory based, as member of a core facility, and led a several laboratory research projects for the Parkinson's Research Team.
I am a member of the Institute of Science and Technology and have been awarded professional registration (RSci) by the Science Council.
2010 - present: Cardiff University School of Medicine, Senior Technician (Neurodegeneneration)
Identification of variations in the genomic sequence which increase susceptibility to neurological disorders using a variety of sequencing techniques including:
- Profiling post-translational modifications of histone proteins as a determiant of Parkonson's disease susceptibility in frozen brain tissue using ChIP-seq.
- Epigenetic investigation using array-based methylation assays.
- 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.
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 & 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)
I have recently taken a role within the Genome Hub at Cardiff School of Biosciences, generating Next-Generation sequencing data for a diverse range of projects from biomedicine to ecology.
As Research Manager with the Alzheimer's Disease Research Group I was involved in many projects related to Alzheimer's and Dementia research, both within Cardiff University and also large international collaborations.
Prior to my management role, my research projects investigated the genetic basis of Parkinson's disease, where I used a diverse range of complex techniques in order to generate high quality biological data which is then used for statistical analysis.