I am currently undertaking post-graduate research training on a NIHR/HEE Healthcare Science Doctoral Research Fellowship. Working under the supervision of Prof Hugh Watkins and Prof Martin Farrall in the Division of Cardiovascular Medicine, my research focuses on the genetic basis of Hypertrophic Cardiomyopathy and other inherited heart conditions.
I am a registered Clinical scientist (CSO2258) and a Member of the Royal College of Pathologists. Prior to undertaking my Fellowship, I was Lead Scientist for Inherited Cardiac Conditions at the Oxford Medical Genetics Laboratory.
Hypertrophic Cardiomyopathy (HCM) is the most common inherited cardiac disorder, with an estimated prevalence of approximately 1/5001.
It is a clinically important condition, being the most frequent cause of sudden death in athletes and young adults <35 years of age. Genetic testing has been available for HCM for over a decade and is now a routine part of patient care. The main benefit of finding a genetic cause of HCM in an individual is that genetic testing can enable clinical teams to definitively identify at risk family relatives. However, the genetics of HCM is complex and with current genetic tests we are only able to make a genetic diagnosis in around 40% of patients. Through my research, I hope to improve our understanding about the genes and variants which cause HCM and ultimately improve the success rate of genetic testing for individuals with this condition. I am currently using whole genome sequencing (WGS) data to explore the genetic basis of HCM in the 60% of individuals with a clinical diagnosis of HCM in whom no pathogenic variant has been detected in with current testing. This research is being undertaken as part of the NIHR BioResource Rare Disease project (https://bioresource.nihr.ac.uk/rare-diseases/hypertrophic-cardiomyopathy-hcm/).
Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry.
Neubauer S. et al, (2019), J Am Coll Cardiol, 74, 2333 - 2345
Enhanced prediction of gene and missense rare-variant pathogenicity by joint analysis of gene burden and amino-acid residue position
Waring AJ. et al, (2019)
Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases
Walsh R. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1720 - 1720
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.
Taylor J. et al, (2019), Genome Med, 11
Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease.
Buchanan J. et al, (2019), Eur J Hum Genet