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/).
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Walsh R. et al, (2017), Genet Med, 19, 192 - 203
Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.
Hastings R. et al, (2016), Circ Cardiovasc Genet, 9, 426 - 435
Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.
Kienzler A-K. et al, (2016), Clin Immunol, 163, 17 - 21
Early onset cardiomyopathy in females with Danon disease.
Hedberg Oldfors C. et al, (2015), Neuromuscul Disord, 25, 493 - 501
Hypomorphic Mutation in DOCK8 Causes Combined Immune Deficiency Without Hyper-IGE
Kienzler AK. et al, (2014), JOURNAL OF CLINICAL IMMUNOLOGY, 34, S187 - S187