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PhD Studentship/Fellowship: Analysis of the genomic causes of the major neurodegenerative disorders

UCL Institute of Neurology

Qualification Type: PhD
Location: London
Funding for: UK Students, EU Students, International Students
Funding amount: PhD stipend of £21,000 per year, UKRI/UCL rates, for 3.5 years PhD stipend; UK home PhD fees paid (3 years, with year 4 as Completing Research Status (CRS) and lab consumables.
Hours: Full Time
Placed On: 21st June 2024
Closes: 25th June 2024

Over the last 10 years, genome wide association studies (GWAS), exome sequencing and short-read genomic sequencing have enabled a revolution in our understanding of the genetic basis of neurodegenerative diseases, their progression and disease pathways. In this period, most of the Mendelian genes for the major neurodegenerative diseases have been described, many of which are also risk loci for the sporadic forms of the same diseases identified through GWAS studies. These studies have revolutionised our understanding of these diseases and identified sometimes unexpected relationships between diseases and genes, such as the identification of variation in the glucocerebrosidase gene (GBA) in Parkinson’s disease and association of TREM2 with Alzheimer’s disease.

In the past we lacked the technology to accurately characterise important genomic regions. Short reads cannot fully assemble complex genomic rearrangements especially those with repetitive sequences, nor can they accurately identify or quantify expressed isoforms. This will inevitably result in key sequence information being “missed” from both DNA and RNA analyses. Using targeted long-read sequencing technology, neurodegenerative disease loci will be described with precision. We will integrate technologies with our extensive experience of the clinical and pathological features of neurodegenerative diseases and their complex genetic architectures, to generate a step-change in our understanding of neurodegeneration. The hypothesis underlying this work is that a significant lack of data and inaccuracies in our knowledge of the genomic structure and transcriptomic profile at neurodegenerative disease loci have limited our understanding of disease pathogenesis and hold key information on the causes and disease modifiers of neurodegeneration.

This PhD studentship is part of a larger project funded by the Fidelity foundation, Dolby family fund and MJFF (GP2) initiatives to Profs Hardy, Houlden, Gustafsson and Ryten.

The main objectives of the studentship will be:

  • To develop long-read sequencing wet and analytical skills to generate high quality long-read DNA and RNA-sequencing data to accurately investigate and annotate loci and genes of interest in human brain samples across a range of neurodegenerative diseases.
  • To develop long-read sequencing wet lab and analysis to identify known and expanded repeat expansions.
  • Use this new genomic and transcriptomic map to re-assess genetic pathways and GWAS risk SNPs at these loci by leveraging data generated both within this project and available publicly.
  • Use this new genomic and transcriptomic map to re-assess the pathogenicity of variants identified through short-read genome sequencing (100,000 genomes project and GP2 ASAP projects) of patients with hereditary forms of neurodegeneration.

Duration. Full-time: 3-year UCL studentship/fellowship, starting from October 2024.

PIs: Profs Hardy, Houlden, Gustafsson and Ryten.

Funding

PhD stipend of £21,000 per year, UKRI/UCL rates, for 3.5 years PhD stipend.

UK home PhD fees paid (3 years, with year 4 as Completing Research Status (CRS) and lab consumables. Overseas applicants welcome, but are required to pay the international tuition fee balance.

The successful candidate will be a highly motivated individual who can work both independently and as part of a team. Applicants must hold a biological or medical degree or a related subject as or candidates should have (or expect to achieve) a minimum of a 2.2 Honours BSc degree or MD/medical degree or MBBS or MSc.

Location

UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG

Closing Date

1 week after posting, interview 26/27th June 2024.

To apply or queries, please send a CV to h.houlden@ucl.ac.uk and j.hardy@ucl.ac.uk

Shortlisted candidates will be interviewed.

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