Principal Clinical Scientist / Clinical NGS Core Facility Lead
In her research, Helene works closely with both University and NHS teams to develop new methodologies for molecular pathology, with a particular interest in cell-free DNA assays.
Helene is a Principal Clinical Scientist in the Oxford Molecular Diagnostic Centre, part of a collaboration between the Oxford University Hospitals NHS Foundation Trust and the University of Oxford.
She received her first MSc Hons. (Molecular and Cellular Biology) in 2005 at the University Louis Pasteur, in Strasbourg (France) and her second MSc (in Vitro Diagnostic Industry) in 2006 at the University Joseph Fourier, in Grenoble (France).
Subsequently, Helene moved to the UK, where she became a Development Technologist in Tepnel Diagnostic, where she developed multiple genetic assays for a wide range of constitutional disorders. Interested in patient care, she then integrated the NHS in the Laboratory Haematology at the Oxford University Hospitals NHS Foundation Trust, where she trained as a Clinical Scientist and completed her third MSc (Haematology) in 2011 at the University of Westminster (UK).
In this setting, she developed multiple assays for detection of molecular markers for the diagnosis, prognosis and monitoring of patients suffering from haematological disorders. With the advances in technologies, she oversaw the development and implementation in clinical practice of Next Generation Sequencing (NGS) protocols, especially in haemato-oncology and solid tumours, becoming the lead of the NGS Core Facilities (Clinical).
Continuing to work closely with Prof. Anna SCHUH, she was involved in the development of clinical-grade Whole Genome Sequencing (WGS) for use in oncology, and is currently supporting the development of new NGS methodologies, including in cfDNA within the Oxford Molecular Diagnosis centre (OMDC).
Schwarze K. et al, (2020), Genet Med, 22, 85 - 94
O'Sullivan JM. et al, (2019), Blood, 134, 2107 - 2111
Burns A. et al, (2019), Leukemia, 33
Klintman J. et al, (2019), British Journal of Haematology
Glucophosphate isomerase deficiency identified by next-generation sequencing
Vora SM. et al, (2019), BRITISH JOURNAL OF HAEMATOLOGY, 185, 118 - 118