Supervisors: Dr. Androniki Psifidi, Prof. David Connolly, Prof. Virginia Luis Fuentes, Dr. Ankit Hinsu

Department: Clinical Science and Services, Royal Veterinary College

Project Details:

Hypertrophic cardiomyopathy (HCM) is the most common inherited heart disease in humans and cats affecting up to 15% of the domestic cat population. Similar to HCM in human, feline HCM is characterised by thickening of the left ventricular myocardium leading to reduced cardiac function; clinical symptoms include arrhythmia, thromboembolism, heart failure and sudden cardiac death. HCM has an increased prevalence in certain cat breeds including Persian, British Shorthairs, Birman, Sphynx and Bengals indicating the role of genetics in the disease process Previous studies have associated more than 1000 mutations in humans with HCM while, only handful have been detected in the cats despite the higher disease prevalence. Recent studies from our group and others suggest that HCM is a complex and heterogeneous disease and as such, advanced genetic approaches ,similar with the ones applied in human studies are needed to dissect the genetic of feline HCM.

In this project , we will use cutting -edge technologies such as  long-read DNA sequencing using Oxford Nanopore technology , whole-genome sequencing (WGS) and whole RNA-Sequencing using Illumina technology to identify  causative mutations  responsible for cat susceptibility to HCM. The MRes student will contribute to the detection of species-specific structural variants (SVs) and other genetic variants associated with HCM as well as will investigate the role of epigenetic mechanisms in disease predisposition, Key results will be validated using wet-lab approaches. The usefulness of the natural cat HCM model for the  human disease will be also assessed in collaboration with colleagues working  on the human equivalent disease (UCL, cardiovascular diseases genetics team). Through this project, the student will gain a wealth of experience in both cutting-edge bioinformatics and wet-lab methodologies. This study aims to advance our understanding of the genetic mechanisms underlying feline HCM by integrating transcriptomic and genomic data, with the goal of identifying novel biomarkers and potential therapeutic targets. The outcomes of this project would contribute  towards a  scientific publication in a journal of broad outreach.

References:

J. Raffle, J.N. Matos, P. Elliott, D.J. Connolly, V. Luis-Fuentes, A. Psifidi. 2025. "Identification of novel genetic variants associated with feline cardiomyopathy using targeted next-generation sequencing" Sci Rep 15:3871. doi:10.1038/s41598-025-87852-5

M.D. Kittleson, K.M. Meurs, S.P. Harris. The genetic basis of hypertrophic cardiomyopathy in cats and humans. Journal of Veterinary Cardiology 2015; 17, S53-S73. DOI: 10.1016/j.jvc.2015.03.001

J. Joshua, J. Caswell, M.L. O’Sullivan, G. Wood, S. Fonfara. Feline myocardial transcriptome in health and in hypertrophic cardiomyopathy—A translational animal model for human disease. PLoS ONE 2023; 18(3), e0283244. DOI: 10.1371/journal.pone.0283244 

Requirements:

Essential

Must meet our standard MRes entry requirements (The student doesn’t need to be a veterinary graduate).

Desirable ·      

Previous experience of statistical analysis and use of R would be desirable but not essential. ·      

Previous wet-lab experience would be also desirable.

This can be taken full-time or part-time (12months FTE) project commencing in October 2025, based at RVC's Hawkshead campus. 

Funding:

Partially funded: The total RNA Seq data, WGS,  long reads sequencing  and other consumables will be covered by the supervisor s. The MRes student is expected to meet the course fees and their living expenses.

International applicants are welcome to apply but must be able to fund the difference between "Home" and "Overseas" tuition fees.  

Please note that EU/EEA and Swiss national students may no longer be eligible for the “Home” rate of tuition fees, dependent on personal circumstances (including immigration status and residence history in the UK) and UK government rules which are currently being developed. For up-to-date information on fees for EU/EEA and Swiss national students following Brexit please see our fees and funding page.

Deadline: 19th of June 2025

We welcome informal enquiries - these should be directed to apsifidi@rvc.ac.uk