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/).
Using High-Resolution Variant Frequencies Empowers Clinical Genome Interpretation and Enables Investigation of Genetic Architecture
Whiffin N. et al, (2019), American Journal of Human Genetics, 104, 187 - 190
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield.
Thomson KL. et al, (2018), Genet Med
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Kelly MA. et al, (2018), Genet Med, 20, 351 - 359
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes
Walsh R. et al, (2017), EUROPEAN HEART JOURNAL, 38, 3461 - 3468
Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes.
Walsh R. et al, (2017), Eur Heart J, 38, 3461 - 3468