PhD; MSc Genetic Counselling
Understanding the impacts of developments in genetics/genomics on patients, families and society.
Genetics and genomics have advanced rapidly in recent years. My research focuses on understanding the impacts of these developments on patients, their families and society. Working as a genetic counsellor in the Inherited Heart Conditions clinic, and being involved in translating research genetic testing into clinical practice, I am well placed to identify issues that require exploration.
Ormondroyd E. et al, (2020), European journal of human genetics : EJHG
Thaventhiran JED. et al, (2020), Nature
Thaventhiran JED. et al, (2020), Nature, 583, 90 - 95
Turro E. et al, (2020), Nature, 583, 96 - 102
Whole-genome sequencing of rare disease patients in a national healthcare system
ROBERTS I. and WATKINS H., (2020), Nature