Investigating the complex genomics of heritable cardiac diseases
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- Dr Marta Futema
- Dr Roddy Walsh
- Professor Elijah Behr
This PhD project will involve large-scale computational genetics/genomics analysis of genome sequencing datasets from patients with cardiomyopathies, diseases affecting 1/200 people and causing sudden death and heart failure in the young. The focus of the project will be to develop new approaches and techniques to discover and characterise novel disease genes and variant classes, with a particular emphasis on the non-coding genome which has until now been largely ignored. The project will provide new insights into the genetic basis of these important conditions, enhance how patients and families are diagnosed and managed in the clinic, and develop new methods for analysing the non-coding genome that can be applied across rare disease genetics.
Project details
Genome sequencing is becoming a feasible first line clinical assay for patients with rare diseases, with large-scale datasets available in resources like the UK Biobank and Genomics England. However, our ability to interpret genetic variation in the non-coding 98% of the genome is still rudimentary. Cardiomyopathies are medically important diseases associated with sudden cardiac death and heart failure, but currently clinical genetic testing identifies actionable causal genetic variants in only 0one-third of patients. Their genetic basis is now understood to be much more complex than simple Mendelian disease, but our knowledge of rare genetic subtypes, modifying genetic variants and the non-coding genome remains limited, affecting our ability to diagnose individuals and stratify risk of adverse outcomes in patients/families.
This project will address these issues through computational genetics and bioinformatics analysis of large-scale cardiomyopathy and biobank genomics datasets, including the UK Biobank, All of Us, Genomics England and proprietary cardiac genomic datasets. It will develop innovative approaches to identifying and validating novel disease genes and variant classes through detailed interrogation of key disease loci (e.g. those identified in recent large-scale GWAS). Moving beyond simple Mendelian models of disease, the project will focus on modifier genetic risk variants of intermediate effect size and rare non-coding regulatory variants, taking advantage of emerging machine learning algorithms and detailed interrogation of multi-omics datasets. State-of-the-art approaches will be utilised and developed to identify and validate these novel genetic risk factors.
Some recent examples from our group on novel approaches to the discovery of genetic risk factors in cardiovascular disease include Lipov et al, Nature Cardiovascular Research 2023 and Walsh et al, Circulation 2024.
Large-scale analysis of genome sequencing datasets, developing novel approaches and techniques to analyse the non-coding genome, understanding of the complex genetic basis of diseases like cardiomyopathies.
Prospective applicants are welcome to contact Dr Roddy Walsh or Dr Marta Futema to discuss the project.
Please submit a completed application form (Word) by no later than 5pm on Monday 7 July 2025 to stgeorgesphd@sgul.ac.uk. An equal opportunities form (Word) should also be submitted as a separate document. References will be requested should you be successful in being offered the studentship.
Applications will undergo shortlisting and successful applicants will then be invited to interview week beginning 21 July.
The successful candidate will be given a verbal offer and once it has been accepted, will be sent a formal offer letter and a registration pack with joining information.
Unsuccessful candidates will be contacted with their outcomes at the earliest opportunity and will be able to request feedback if required.
This studentship is open to all applicants and provides funding for 3 years full-time and includes home tuition fees plus a tax-free stipend in line with UKRI rates. Overseas students will be expected to cover the difference in the fees between the home and overseas rates.