The Mortiboys Team

Current project title: Developing in-depth cellular phenotyping of Parkinson’s patients for stratification and disease progression

I joined the Mortiboys lab in 2023 for my MSc project where I looked at the effect of small compounds on mitophagy in Parkinson’s patients with the LRRK2 G2019S mutation. I really loved my time in the lab so I returned for my PhD where I spent most of my time in tissue culture working with patient-derived fibroblasts and induced dopaminergic neurons.

Research interest: Mitochondria, Neurodegeneration and Drug discovery

Current project title: Investigating the mechanistic stratification of sporadic Parkinson’s patients.

I am a final year PhD student and have been part of the team for 4 years. During this time, I have developed extensive experience with patient-derived cell culture, assay development and high content microscopy. These techniques have enabled me to investigate mitochondrial and lysosomal dysfunction in a new cohort of Parkinson’s patients. Both organelles have become a fascination of mine and I wish to pursue a career targeting them therapeutically.

Publications

Multimodal assessment of mitochondrial function in Parkinson's disease

Peripheral Glycolysis in Neurodegenerative Diseases

Linkedin: Toby Burgess

X (Previously Twitter): @Toby__Burgess 

Research interest: Mitochondria, Neurodegeneration and Ageing

Current project title: Investigating the Therapeutic application of AAV transduction in an iDA Parkinsonian model

My name is Alex Bury and I joined Mortiboy’s group in January 2023 as a post-doctoral research associate following completion of my PhD at the Wellcome Centre for Mitochondrial Research at Newcastle University – where I developed a biotechnology (“nanobiopsy”) to isolate mitochondria from cells to better understand the origins of mitochondrial dysfunction in ageing. I have had a long fascination with the involvement of mitochondrial dysfunction in age-associated disease and neurodegeneration. Here in the Mortiboys lab, I have worked in collaboration with Spark Therapeutics (US) and alongside my colleague Nikolas Stefanidis. Our project focuses on the screening of gene therapies targeting dysfunctional cellular pathways in Parkinson’s disease using a directly reprogrammed dopaminergic neuron model - developed here at SITraN. In addition to my research project, I am also part of the PD-AGE network which helps me to indulge in my research interest of investigating how we can standardise research to better understand the complex interplay between pathological ageing and neurodegeneration. Working here at SITraN, and specifically the Mortiboy’s group, is incredibly rewarding and it feels fantastic to work as part of a talented and committed team all with the common goal of finding effective treatments for Parkinson’s disease.

Selected publications:

Mitochondrial DNA changes in pedunculopontine cholinergic neurons in Parkinson's disease 

A subcellular cookie cutter for spatial genomics in human tissue 

Linkedin: Alex Bury

ResearchGate: Alex Bury

X (Previously Twitter): @Mitochondri_Al 

Current project title: Researching the rescue of mitochondrial dysfunction in Friedreich Ataxia through high-throughput drug screening

I graduated in 2024 from the University of Sheffield with an MSc in Translational Neuroscience. My research project aimed at 'characterising ALS-disease phenotypes in iPSC-derived motor neurons with a focus on Membrane lipid raft biochemistry' in the Cooper-Knock Lab where I gained experience in tissue culture, immunocytochemistry, PCR and qPCR. I then joined the Mortiboys lab as a Research Technician. In this role, I'm researching mitochondrial dysfunction in fibroblasts from patients with Friedreich Ataxia, and then performing a high-throughput drug screening to identify compounds that will alleviate mitochondrial dysfunction.

Research interest: Mitochondria, Parkinson’s disease therapeutics and Target validation

Current project title: Investigating the effect of small molecules on Parkinson’s patient-derived cells

I joined the Mortiboys team in 2021 after completing my PhD at the University of Bari (Italy) working on mitochondrial diseases. My project is in collaboration with an industrial partner, and I am currently working on Parkinson’s disease (PD), looking at new targets involved in PD. I carry out genetic modulation via shRNA and siRNA as well as small molecule treatment.

Linkedin: Francesco Capriglia

X (Previously Twitter): @FrancescoCap92

Research interest: MND

Current project title: In-depth mitochondrial phenotyping in a large cohort of motor neuron disease (MND) patient-derived cells to translate into new therapeutic approaches

I joined the Mortiboys team in 2021 as a research technician to work on a large drug screening study to investigate compound effects on mitochondrial health in Parkinson's disease. I have since performed drug screening and mitochondrial phenotyping in multiple diseases including Leigh syndrome, Huntington's disease, Niemann Picks disease, and Motor Neuron disease. I have now progressed onto a PhD where I will be studying mitochondria in MND with the hope of uncovering mechanisms that lead to mitochondrial dysfunction and discovering novel therapeutics to help fight against MND. 

Favourite assay: Complex assay.

Linkedin: Laura Ellis 

Research interest: Neurodegenerative disease mechanisms and translational research, with a focus on the contribution of mitochondrial dysfunction to pathogenesis and the therapeutic potential of improving mitochondrial health.

Current project title: A patient-driven high content imaging approach to finding small molecules which modulate the mitochondrial phenotype in Friedreich’s Ataxia.

After my PhD at King's College London, working with overexpression models of ALS and postmortem tissues, I was drawn to the Mortiboys lab for the opportunity to work with patient-derived cells and to carry out high throughput phenotypic screening of small molecules. During my three years in the lab I have worked on PD, ALS, Leigh Syndrome, Huntington's Disease and now Friedreich's Ataxia, developing expertise in high content imaging and phenotypic screening. Our work on Huntington's Disease captured me and I am now working to develop this area of research in the lab.

LinkedIn: Naomi Hartopp

Research interest: Mitochondrial dysfunction in Parkinson’s disease and how can we restore function with compound treatment.

Current project title: Investigating the Cell Biology Mechanisms Activated by Bile Acids and Metabolites in Parkinson’s Disease Patient Cells

I started my PhD in the Mortiboys lab in October 2021, and have been looking at the effect of compounds on mitochondrial dysfunction in cells derived from people with Parkinson’s disease. While my compounds screen started off in fibroblasts, I am now moving into induced neuronal and astrocyte models to validate my compound activity and will also use my final year to look into potential mechanisms of action of my active compounds.

Research interest: ageing, mitophagy, targeted protein degradation

Current project title: Investigating mitophagy pathways and novel protein degradation system in multiple human cell types across a wide range of ages

My project aims to investigate age-related changes in the highly specialised process of removal of damaged mitochondria, mitophagy, in human fibroblasts, induced neurons and hepatocytes. I have always been interested in broadening my understanding of molecular and cellular alterations leading to a distinct phenotype, and this principle drew me the most to this project. I am investigating basal and induced mitophagy via three methods, in three cell types, which has allowed me to practise my sterile technique. Moreover, we are utilising a novel system of protein degradation, which will further our understanding of cellular changes occurring with age.

X (Previously Twitter): @a0lejnik

Research interest: Mitochondria

Current project title: Compound-related mitophagy project and a mitochondrial rescue compound screening project

I have been a part of the Mortiboys team since October 2023 and I was drawn to the project for its compound related and neurodegeneration aspects as this is something that I have always been interested in and passionate about. Since being here I have greatly expanded my skill set including patient derived tissue culture and compound screening using high-throughput imaging assays and analysis. I’ve also enjoyed working with industry partners and through this I have developed my data interpretation and analysis skills.

Research interest: Mitochondria, Parkinson's, Ageing and Genetics

Current project title: International Network for Parkinson’s Disease Modelling and AGEing (PD-AGE)

I started studying Parkinson's during my undergrad after being deeply intrigued by its complexities at a lecture. From there, I delved deeper into the subject during my MSc project and continued to focus on it throughout my PhD and both of my post-doc positions. During my PhD, I was particularly interested in the relationship between mitochondrial DNA replication and the clonal expansion of mtDNA mutations in neurons associated with PD. I joined Prof Mortiboys' lab in 2019, where I initially worked on a project exploring the impact of DUBs (deubiquitinating enzymes) in Parkinson's, funded by an industry collaborator. Following the completion of that project, I transitioned to another exciting venture within the Mortiboys lab, investigating mitochondrial variations in astrocytes. While conducting research has been immensely fulfilling, I discovered a passion for research management along the way. That's why I've pivoted into a role as a research manager, where I get to blend my scientific expertise with organizational skills. Currently, I split my time between being a research manager for Prof. Mortiboys' lab and the PD-AGE network. At PD-AGE, we're on a mission to collaborate with over 50 international experts from academia and industry to develop a comprehensive plan for studying the impact of ageing on Parkinson's. It's an ambitious endeavour, but one that I'm incredibly passionate about. 

If you ever want to chat about Parkinson's research, ageing, or anything in between, feel free to reach out to me via email or on Twitter. 

X (Previously Twitter): @lizziestephenbr  

LinkedIn: Lizzie Stephen

Email: e.d.stephen@sheffield.ac.uk

Research interest: Mitochondria in Alzheimer’s disease

Project within the Mortiboys Team: Compound Screening in PSEN1 patient cells

Beyond the Mortiboys Lab:

X (Previously Twitter): @KatyBarnes30 

Research interest: Parkinson’s disease therapeutics

Project within the Mortiboys Team: Repurposing anti-gout medications to treat Parkinson’s disease

Beyond the Mortiboys Lab: Preclinical Research Manager at Cure Parkinson's

X (Previously Twitter): @RachelMHughes1

Research interest: autophagy and mitophagy as therapeutic targets in neurodegenerative diseases

Project within the Mortiboys Team: Investigating mitochondrial and glycolytic phenotypes in Drosophila and patient-derived models of C9orf72-ALS

Beyond the Mortiboys Lab: Postdoctoral Research Fellow at UCL GOS ICH

X (Previously Twitter): @NeuronalLee

ResearchGate: James Lee

Research interest: My research focus is on contributing to our understanding of neurodegenerative conditions and I am currently researching hereditary spastic paraplegia (HSP).

Project within the Mortiboys Team: Hereditary spastic paraplegia patient phenotyping and small molecule testing

Beyond the Mortiboys Lab:

LinkedIn: Órlaith O'Shaughnessy

ResearchGate: Órlaith O'Shaughnessy

Research interest: Understanding how the nervous system is established during embryonic development, and how this relates to neurodegeneration. I believe subtle changes in prenatal development can go unnoticed until they manifest late in life promoting neurodegeneration.

Project within the Mortiboys Team: Development of a gene therapy approach to target mitochondrial dysfunction in Parkinson's disease

Beyond the Mortiboys Lab: PhD Student; Mathematical and Statistical Modelling Research Cluster

X (Previously Twitter): @N_Stefanidis