I am a member of the LYMRES team, a clinical academic group with a specialist interest in primary lymphatic anomalies (PLA).
I joined SGUL in 2014 with the goal of implementing a genetic functional validation pipeline, that has led to the inclusion of several PLA causative genes in the Genomics England PanelApp for the patients’ benefit.
After the functional validation of the identified variants, we have been able to give a diagnosis to our patients and allow genetic counselling. However, we still need treatments for our patients.
My research aims to advance our understanding of the molecular and cellular mechanisms that lead to PLA, focusing on the identification of dysregulated pathways with therapeutic potential.
Biography
I have a BSc in Biology from University of Oviedo (Spain), with a specialization in Fundamental Biology and Biotechnology.
I received my PhD degree in Biochemistry and Molecular Biology in Spain (2010). During my PhD I worked on a basic science project aimed to advance the knowledge in the field of the Annexins, a superfamily of membrane-binding proteins with key functions in cells.
Next, I worked as a junior PDRA at Imperial College London in the Hearth and Lung Institute (2011-2013). My work focused on post translational regulation of ERG expression and function, a project that allowed me to gain skills related to the use of blood endothelial cells as a model while strengthening my biochemistry, cell culture and imaging skills. I also gained knowledge in transcriptional and post-transcriptional regulation and became interested in the mechanisms driving endothelial (dys)function.
I joined the lymphatic research (LYMRES) group at SGUL in 2014 with the aim of bringing molecular and cellular biology expertise applied to vascular biology to the team. First I worked as a PDRA, since 2019 as a Research Fellow and in May 2022 I was awarded a Senior Postdoctoral Fellowship co-funded by Rosetrees Trust and St George’s Hospital Charity.
Markers of esteem
Awards:
2022 Complex Lymphatic Anomalies Young Investigator Award (Orphan Disease Center, University of Pennsylvania).
2022 St George’s pilot research project grant (Wellcome Trust Institutional Strategic Support Fund).
2022 Rosetrees Trust & St George’s Hospital Charity Postdoctoral Translational Research Fellowship.
2021 Postdoctoral Award, SGUL Research Day.
Invited speaker/chair:
2023 – 29th ISL World Congress of Lymphology, Genoa, Italy.
2023 – International Conference on Complex Lymphatic Anomalies, Dallas, US.
2021 – International Lymphatic Seminars, hybrid meeting.
2020 – Invited chair Gordon Research Seminar - Lymphatics (Ventura, US).
Others:
- Aurora – Women’s Leadership Development Programme (2022).
- London Vascular Biology Forum (LVBF) committee member.
- Peer-reviewer (journals such as AJMG, Genes).
My research interests are:
To advance our understanding of the molecular and cellular mechanisms that lead to PLA, focusing on the identification of dysregulated pathways with therapeutic potential.
To develop better in vitro tools to investigate PLA mechanism of disease and treatments options.
Some of my current projects are:
- Investigation of the EPHB4/RAS/MAPK/ERK signalling pathway dysregulation in PLA and the use of MEK inhibitors as potential therapeutics.
- Mass spectrometry proteomics for the identification of EPHB4 interactors in lymphatic endothelial cells.
- Better in vitro models for primary lymphatic anomalies (e.g. ECFCs and 3D lymphatics-on-a-chip).
- Contribution of non-coding variation to the development of Primary Lymphatic Anomalies.
Lecturer:
Cell and Molecular Biology Y3 module
Human Medical Genetics Y3 module
Genomics Y2
Module lead:
Research project in Human Genetics Y3