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Facility lead - Sir Professor John Hardy
John Hardy is the Chair of Molecular Biology of Neurological Disease at the UCL Institute of Neurology with over 23,000 citations. In recognition of his exceptional contributions to science, he was elected a Fellow of the Royal Society in 2009. In 2015, he was awarded the Breakthrough Prize, and, in 2018, the Brain Prize from The Lundbeck Foundation in Denmark.
Facility lead - Professor Henry Houlden
The combination of genetic, functional cell biology and neuropathological methods is a particularly powerful approach for understanding neurological diseases and their pathological processes. Given the rapid advances in genetic technology and knowledge, the analysis of RNA, protein expression and protein interactions in human tissue will become central to neurological research. It is likely that the next 10 years will see the development of treatments for human diseases based on these advances. Therefore, the collection of clinically characterised neuropathological material is pivotal to future research. My research group are carrying out a programme of genetic and pathological investigations into human neurodegeneration. We have recently identified two ataxia genes and we are working on a number of disease genes in ataxia, peripheral neuropathy, parkinson's disease and dementia. These genetic and neuropathological studies integrating functional in vitro research will translate this research into disease modifying treatment for human diseases.
Senior Research Technician - Jasmaine Lee
Jasmaine graduated in 2020 from the University of Manchester with a BSc. in Microbiology. She joined the Long Read Sequencing facility at UCL in 2023 with 5 years of sequencing and molecular experience. She has worked with Ion Torrent, Illumina and Oxford Nanopore sequencing platforms as well as experience in qPCR, ddPCR and automated liquid handlers. Jasmaine spent two years working at Yourgene Health developing and automating non-invasive prenatal testing and fetal RhD genoptying. She then moved on to NHSBT designing a protocol for full-gene HLA and HPA sequencing for rapid deceased donor genotyping.
Senior Research Technician - Hermione Blomfield Smith
Hermione joined the Long Read Sequencing Facility in 2024 with 4 years of molecular and sequencing experience prior to this in the Long Read team at the Wellcome Sanger Institute.
Hermione is experienced with Oxford Nanopore and PacBio sequencing platforms as well as with high molecular weight DNA extractions. Hermione worked with long read sequencing for 2 years after graduating from an MSc at Imperial college. Following this she worked on development and implementation of automated library preparation for high throughput nanopore sequencing. She then worked on developing an automated and optimised protocol for HMW DNA extractions for PacBio using the KingFisher Apex.