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Dr Elaine Dunlop

Dr Elaine Dunlop


School of Medicine

+44 (0)29 2068 7785
Cancer Genetics Building, University Hospital of Wales, Heath Park, Cardiff, CF14 4XN
Available for postgraduate supervision

'Working towards tailored therapies for inherited diseases and cancer'

My research centres on the inherited conditions, Tuberous Sclerosis Complex (TSC) and Birt-Hogg-Dubé (BHD) syndrome where patients are predisposed to develop cysts and tumours. I aim to understand what is malfunctioning in these cells at a molecular level, with the goal of identifying weaknesses which could be specifically targeted by therapies. As there is crossover between the altered growth pathways observed in these genetic diseases and the pathways which are at fault in sporadic cancer, these future treatments could also be effective for the wider cancer community. Therefore, through a better understanding of disease processes we can work towards stratifying patients based on the genetics of their disease and treating them with appropriately tailored therapies.

Professional Network Sites

  • ResearchGate:
  • Publons:
  • ORCiD:

Research Funding

  • Tuberous Sclerosis Association
  • Tuberous Sclerosis Complex Research Program – Department of Defense, Congressionally Directed Medical Research Programs

Education and Qualifications

2006 PhD (Centre for Cancer Research and Cell Biology) Queen’s University, Belfast

2003 BSc (Hons) Biochemistry, First Class, Queen’s University, Belfast

Awarded Tim Bramley Prize (Top Biochemistry student, 2003) & John Sinclair Porter Scholarship (2001)

Career Overview

Jan 2019 – present    Lecturer, Division of Cancer & Genetics/Centre for Medical Education, Cardiff University

Jul 2015 – Jan 2019  Research Fellow, Division of Cancer & Genetics, Cardiff University

Mar 2013 – Jul 2015 Research Associate, Institute of Cancer & Genetics, Cardiff University

Jan 2011 – Feb 2013 Myrovlytis Trust Research Fellow, Institute of Cancer & Genetics, Cardiff University

May 2007 – Dec 2010 Research Associate, Institute of Medical Genetics, Cardiff University

Oct 2006 – Apr 2007 Special Research Scholar, Haematology Research, Queen’s University, Belfast

Professional memberships

2019 - present    Fellow of the Higher Education Academy

2016                  Welsh Crucible Participant

2016 - present  Member of the European Association for Cancer Research

2014                 Associate Fellow of the Higher Education Academy













I contribute to undergraduate MBBCh C21 curriculum delivery through:

  • Year 1 – Student Selected Component, Literature Review
  • Year 2 – Case Based Learning Facilitator

I also contribute to intercalated BSc Programmes

  • ME3036 - Molecular Genetics and Cell Biology module
  • Research Supervisor to laboratory based Intercalated Projects

I am a STEM Ambassador, contributing to outreach activities involving school children and patient groups. These include the School of Medicine 'Science in Health Live' event and the Life Sciences Challenge.

Research overview

My research focuses on the signalling pathways underlying genetic diseases and cancer. Much of my work is concentrated on the mammalian target of rapamycin complex 1 (mTORC1) signalling pathway which controls cell growth, and is disrupted in a number of genetic tumour-disposition syndromes, such as tuberous sclerosis complex (TSC) and Birt-Hogg-Dubé (BHD) Syndrome, as well as in sporadic cancer. My research interests are all linked to signalling mechanisms that are drivers of cancer, including processes such as autophagy, mitochondrial biogenesis and metastasis. Recently I have expanded my research to examine the contribution of the microenvironment to genetic disease and am exploring potential predictive biomarkers of disease.

The overall aim of my research is to gain sufficient understanding of the defects underlying TSC and BHD to identify pathways that could be targeted to bring therapeutic benefit to patients. Due to the crossover between the altered signalling pathways seen in TSC, BHD and cancer, the broader scope of my future research is to determine whether these therapies are also effective on stratified sporadic cancers. I work closely with the wider TSC research team at Cardiff, which includes clinicians and geneticists to find cellular mechanisms that can be exploited for potential therapy. I also have strong collaborations with the Cardiff University Tissue Microenvironment Group.

Scientific Contribution

  1. Therapeutic targeting of mTORC1-driven cells. My recent work has used knowledge of the points of stress in TSC-deficient cells to identify potential therapeutic targets. We have explored the use of chemical agents and the repositioning of FDA approved drugs in order to preferentially induce cell death in TSC-deficient cells. We discovered that a combination of nelfinavir and bortezomib selectively kills TSC2-deficient cell lines in vitro and reduces tumour volume in vivo, indicating that targeting endoplasmic reticulum stress in combination with proteasomal inhibition could be a viable strategy to treat TS patients. The combination was also effective in sporadic cancer cell lines with mTORC1 hyperactivity, indicating potential broader applications.
  2. Exploring mTORC1 cellular signalling mechanisms. My research has better characterized the interactions between the various proteins involved in mTORC1 and we were the first to identify a novel feedback loop allowing the ULK1 kinase involved in autophagy to turn off mTORC1 signalling through specific phosphorylation events. Additionally, two collaborative publications have analysed the role of the TSC proteins at the peroxisome and the influence of arginine on the TSC2-Rheb signalling axis. This work has enhanced our understanding of the mTORC1 signalling network which is known to be dysregulated in many human diseases.
  3. Understanding Birt-Hogg-Dubé (BHD) Syndrome. The cellular function of the tumour suppressor protein, folliculin (FLCN), responsible for BHD syndrome is not well characterized. Over the course of my Myrovlytis Trust Fellowship, I revealed altered homeostatic pathways in FLCN-deficient cells, including working with collaborators to show that FLCN plays a role in AMPK signalling, leading to mitochondrial biogenesis, increased ROS production and a conversion towards Warburg metabolic reprogramming. Additionally, I discovered that FLCN is necessary for efficient basal autophagy, interacts with two key components of the autophagy machinery and is a new substrate of ULK1. We also confirmed autophagy defects in tumour samples from BHD patients. This work has helped elucidate the function of FLCN and provide an insight into the homeostatic changes in the cells of BHD patients.

Past projects

Co-supervisor for Rachel-Ann Russell (PhD awarded 2019)

Co-supervisor for Henry McCann (PhD awarded 2019)

Outreach activities

My first involvement in public engagement was through the Beacon Researchers in Schools scheme in 2010, running Genetics workshops at Duffryn High School, Newport. Following this, I became a STEM Ambassador, and have regularly undertaken a range of activities since.

I have contributed to outreach activities organised by others for schoolchildren, such as the School of Medicine ‘Life Sciences Challenge’ and 'Science in Health Live' events. I have also collaborated with teachers to deliver bespoke events, such as a PCR/gel electrophoresis experience and careers talks.

I have participated in events for the general public, including Wales Cancer Research Centre’s ‘How do we develop new cancer drugs?’ event. I have also spoken about my research to patient groups, such as at the Tuberous Sclerosis Association’s Big Day 2018 and the TSA Welsh Info Day 2019.

External profiles


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