Students

Postgraduate Students:

Abdullah Alshehri (PhD student)

Identifying and characterising lysosomal storage disease phenotypes for utilisation in novel screening and monitoring assays

My primary PhD aim is focused on developing a new, simple and rapid biomarker assay based on the common cellular phenotypes that emerge in LSDs. Lysosomal expansion (storage – see figure below) takes place across a wide range of LSDs and the lysotracker probe has been developed as a method to monitor lysosomal expansion in patients with Niemann-Pick disease type C (Lachmann RH, et al. 2005). This project will look at the mechanisms by which lysotracker loads into lysosomes, abdullahlysotassay e.g concentration, stability, intracellular pH, etc. I have further adapted the assay to capture circulating B cells from whole blood samples by a novel magnetic separation method allowing for more rapid and simple diagnosis and therapeutic monitoring using microplate reader. Further aims of the project will include; evaluation of alteration in heavy metals across the LSDs, evaluation of enzymatic assays for use as screening tools, evaluation of lipid biomarkers across the LSDs and a study into the stability of blood samples for the above assays.

Collaboration: Dr Cole and Dr Moat at the University Hospital, Cardiff.

Funding: King Fahad medical city in Riyadh.

Emily Kirkham (PhD student)

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My interest in Neurodegenerative diseases started during my undergraduate degree during which I completed a professional training year in Cardiff School of Pharmacy where I worked on the role of endocytic proteins in Alzheimer’s disease. My interest in the endo-lysosomal system was then developed during my final year project in the ELE lab working on cholesterol markers in lysosomal diseases.

My current ARUK funded project has merged my interest in Alzheimer’s disease and lysosomal function as I work on ‘The Characterisation of lysosomal pH and Ca2+ in Familial Alzheimer’s Disease (FAD).’ Previous work done by our collaborators on cell lines containing mutations which commonly cause FAD has shown that these cells exhibit defective lysosomal acidification. Our project aims to uncover the extent of changes in lysosomal pH in cells derived from FAD patients and to explore what effect this decreased acidity of the lysosome has on lysosomal function and Ca2+ homeostasis.

I am funded by Alzheimer’s Research UK (ARUK).

Rafael Andrés Badell-Grau (PhD student)

rafa I have always had great interest in pharmacology and neurodegenerative diseases. Whilst studying towards my degree in biochemistry my interest was focused onto lysosomal diseases which I then took forward and expanded during my Masters in Research where I worked on Huntington’s disease in the ELE lab.

Using the knowledge and skills throughout the Masters in Research, I am now working towards a PhD at Cardiff University with Dr Emyr Lloyd-Evans entitled “Drug development for lysosomal storage disease: a focused approach on the childhood epilepsies (CLN7 and CLN8 disease)” kindly funded by the BDFA and the Life Science Research Network Wales. The project is focused on exploring and expanding our knowledge of the mechanisms underling CLN8 diseases. Using the knowledge uncovered, along with ELE lab expertise, the project will then begin the exploration of drug treatments for lysosomal storage diseases such as CLN7 and beyond.

Funded by the Batten Disease Family Association (BDFA) and the Life Science Research Network Wales (LSRNW).

Find out more about me on LinkedIn

Katie Shipley (PhD student)

“Identifying and treating the mechanisms leading to cellular dysfunction in neuronal ceroid lipofuscinosis 5 (CLN5)”

I have always had a long-standing interest in the mechanisms underlying neurodegenerative diseases. After completing my undergraduate degree in Biochemistry (LJMU), I went on to complete an MRes in Brain Sciences (UCL), specifically focusing on neuronal and astrocytic cell death in Parkinson’s disease.

My current PhD focuses on a rare, childhood, neurodegenerative disease called CLN5. CLN5 is one of a group of rare lysosomal storage diseases collectively known as the neuronal ceroid lipofuscinoses (NCLs); more commonly referred to as Batten disease. The primary aim of my PhD is to identify novel cellular phenotypes of CLN5 patient cells, including changes to lysosomal volume, mitochondrial abnormalities and alterations in lipid levels. We hope that building on this data will enable us to identify the earliest pathogenic event in the CLN5 disease cascade, allowing us to target this therapeutically via high throughput drug screening.

Battle Batten, the Batten Disease Family Association (BDFA) and Cardiff University School of Biosciences generously fund this project.

Sophie Cook (MRC GW4 DTP PhD student)

“Investigating the impact of metallic nanoparticles on biological systems and lysosomal function”

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I completed an undergraduate degree in Biotechnology (BSc Hons) at the School of Biosciences, including a 12 month PTY at the Department of Cell Biology, Konstanz University, Germany working on Gonorrhoea. During this 4 year degree I undertook a number of research projects in the Lloyd-Evans laboratory. These included: 1) a CUROP summer project on developing a Smith-Lemli-Opitz syndrome (SLOS) zebrafish model, 2) a final year project to screen a FDA approved chemical library for modulators of the TPP1 enzyme defective in CLN2 disease and 3) a final summer project to observe the effect of miglustat on Drosophila melanogaster and nanoparticles on lysosomal Ca2+.

For my PhD, I return to the Lloyd-Evans lab to do a focused project to determine the effect of heavy metal nanoparticles on inducing lysosomal dysfunction and Alzheimer like phenotypes in cellular and zebrafish models. The aim of this PhD is to determine whether environmental exposure to nanoparticles (e.g. exhaust fumes) can lead to infiltration of these nanoparticles into the brain with subsequent lysosomal dysfunction and induction of Alzheimer like pathology.

I am funded by the Medial Research Council, UK.

Faye Watson (BBSRC GW4 DTP PhD rotation student)

“Pollen-pistil communication in flowering plants: a role for endocytosis?”

MRes students (2018):

Cerys Bladen – A new zebrafish model of Smith-Lemli-Opitz syndrome

Morgan Mountford – Can stomach ulcers give you Parkinson disease?

Julia Saez Conde – Role of the mutant Huntingtin protein in cancer

Undergraduate students:

Sophie P

Sophie Powell (Placement training year student/research assistant)

I am an undergraduate student at the University of Bath currently (2017-2018) undertaking a 12-month placement in Dr Emyr Lloyd-Evans’ lab.

The aim of Sophie’s project is to research the mechanisms by which miglustat enters the brain and to determine whether we can boost these mechanisms using small molecules. This work is kindly funded by the pharmaceutical company, Actelion.

Charlotte Hughes