Dr Gavin McCluskey, Clinical Research FellowProject: Validation of circulating exosomal diagnostic and prognostic biomarker candidates for Amyotrophic Lateral Sclerosis.
Through my clinical practice as a neurology registrar I have worked closely with patients suffering from MND, and have seen the delay that patients suffer to arrive at a diagnosis and begin treatment. This has spurred me to work to develop tests which better suit patient needs and offer more timely diagnosis, and is the reason that I was delighted at the opportunity to join Dr Duguez' team, undertaking a PhD in developing biomarkers for MND. For this research I have been awarded an Association of British Neurologists and Guarantors of Brain Clinical Research Training Fellowship award for 2020 and a grant by the Irish Institute of Clinical Neurosciences.My project involves the development of the Northern Ireland Motor Neurone Disease Biobank, which aims to collect samples from patients in NI with MND and other participants with neurodegenerative diseases and healthy volunteers. My research is on the validation of muscle specific exosomal biomarker candidates in a large cohort of serum samples. I also work as a member of the clinical team for the regional MND and neuromuscular disease teams with Professor Karen Morrison, Dr Colette Donaghy and Dr John McConville.
Christina Vasilopoulou, PhD researcherProject: Personalized medicine using computational analysis of omics data and molecular interaction networks.
I am an enthusiastic Computational Biologist holding an MSc in Bioinformatics and a BSc in Biology. During my PhD studies, I have had the opportunity to collaborate with great mentors, and explore my passion further for Bioinformatics in devastating diseases by being mainly involved in two projects: (a) the development of snpQT a user-friendly automatic genomic quality control, imputation and genome-wide association analysis software and (b) the elucidation of the molecular mechanisms implicated in the disease of ALS, analysing a large genomic ALS-Control cohort. The September of 2021 we were honoured with the Best Poster Presentation Prize for our snpQT software from the Irish Society of Human Genetics.
Ekene Anakor, Pharmacist & PhD researcherProject: Biodistribution and Uptake Mechanisms of ALS Muscle Exosomes.
As a pharmacist and coming from a medical family, I have always been intrigued by how therapeutics mediate their effects in the human body. This interest resulted in an MSc degree in Pharmaceutical Analysis at the University of Strathclyde where I was first introduced to the concept of rare diseases. This was followed by a period at Consiglio Nazionale delle Ricerche (CNR) in Pisa (Italy) studying the role of small extracellular vesicles (exosomes) in cardiac protection. To combine these two concepts (rare diseases and extracellular vesicles), my research at the Duguez laboratory is focused on elucidating the uptake and biodistribution mechanisms of skeletal muscle extracellular vesicles (exosomes) in ALS. In addition, I am interested in what effect(s) skeletal muscle exosomes have on astrocytes, microglia, and motor neurons. Understanding the uptake mechanisms of skeletal muscle exosomes could open avenues for ALS therapeutics and diagnostic services.
Vanessa Milla, PhD researcherProject: Identification of biomarkers to identify ALS subjects among patients affected by motor neuron disorders.
Stephen Morgan, PhD researcherProject: Network medicine to explore the role of muscle exosomes in ALS and other motor neuron disorders.
Through my undergraduate studies in BSc Stratified Medicine at Ulster University I developed a keen interest in the study of rare diseases. In particular, I'm interested in the application of Bioinformatics approaches to complex biological datasets. Having previously studied under Dr Bill Duddy and Dr Stéphanie Duguez, their passion and enthusiasm for research in neuromuscular disorders convinced me to pursue the opportunity of postgraduate research within the Duguez neuromuscular group. My research project is focused on the application of network medicine approaches on biological interaction networks, to identify what possible role muscle may have in ALS and other neuromuscular diseases. More specifically I am interested in identifying molecular network clusters enriched for ALS associated genes, to identify potential therapeutic targets.
Owen Connolly, PhD researcherProject: Identification and regulation of toxic elements secreted by ALS vesicles.
My interest in the field of neurodegeneration stems from my undergraduate studies in psychology. I became fascinated with research into ALS during my MSc at Sheffields institute for translational neuroscience (SITRAN) where I took part in work investigating the mechanisms through which loss of C9orf72 results in chronic neuroinflammation and onset of the disease. My current work involves identifying the role of skeletal muscle in ALS and more specifically, detecting factors secreted by muscle that may serve as biomarkers for earlier detection of the disease.
Dr Bill Duddy, lecturerMy interest in rare diseases stems from the experience of having a brother with the muscle wasting disease, Duchenne muscular dystrophy. This experience pushed me towards a career in science and research. After some 18 years at research institutes in Scotland, the US, and France, I recently returned home to join the University of Ulster’s Northern Ireland Centre for Stratified Medicine. As part of the neuromuscular research group, I am looking for new ways to understand and treat a range of rare conditions affecting the body’s ability to control and maintain its muscle mass. Our focus is on the role of muscle in motor neuron disorders such as Amyotrophic Lateral Sclerosis (ALS).
Dr Stéphanie Duguez, senior lecturer, team leaderAs a teenager watching the Telethon on French Telethon, I was introduced to neuromuscular conditions and how genetics could help us to understand these diseases and identify therapeutic targets. Ever since then, I have wanted to study neuromuscular disorders, and work as a scientist in this field. During my career, I have worked in different institutes (LPEH Saint Etienne, France, Genethon France, CNMC Washington DC, Institute of Myology, France) on muscle cellular physiology, Duchenne Muscular Dystrophy and then motor neuron diseases. Based at the University of Ulster’s Northern Ireland Centre for Stratified Medicine, I lead the research group in neuromuscular health. Our group focuses on how the muscle communicates with other cells in the body, and its role in motor neuron disorders such as Amyotrophic Lateral Sclerosis (ALS), spinobulbar muscular atrophy (SBMA or Kennedy disease) and SMA-IV.
Previous lab members
Dr Laura Le GallIn 2015 I had the chance to join Dr Stephanie Duguez’s lab as part of my Master’s studies, and I quickly developed a particular interest in neuromuscular diseases. Throughout my internship I witnessed the passion for science and research that drives the lab’s work.Thanks to the support of Dr Duguez I obtained a fellowship to start a joint PhD between Sorbonne Universités and Ulster University. My project’s aim was to study the disruption of the intercellular communication between muscle and nerve in ALS patients. In the course this work I investigated the role of muscle in ALS pathology progression via the secretion of extracellular vesicles called exosomes. My project was divided into 3 main sections, 1- I studied the alteration of exosome secretion in ALS muscle cells, 2- I determined the effects of ALS muscle exosomes on neighbouring cells (including muscle cells and motor neurons), and 3- I investigated the mechanisms involved in ALS muscle exosome-mediated toxicity.
Dr Geetha Vijayakumar
Dr Apostolos MalatrasDr Malatras's interests are in the fields of bioinformatics, systems biology, health informatics and biobank informatics. He holds a degree in Computer Science and Biomedical Informatics from University of Thessaly, a MSc in Bioinformatics from University of Athens and a joint PhD in Systems Biology and Bioinformatics, under the supervision of Dr. William Duddy, between Sorbonne University and Free University of Berlin. He has more than 10 years of experience on the proper accumulation, integration, curation, and analysis of omics data. He was in the development team of several online tools and databases, including: HGCA, CellWhere and MyoMiner (https://sys-myo.com/). Until recently, he was a post-doc researcher at Ulster University managing, analyzing, and standardizing clinical and genomic data. He also assisted in development and is the database administrator of related biobanking systems.
Dr Lu ZhuMaking sense out of massive biological data by using analytical statistics and machine learning approaches has always been my passion. My training in bioinformatics has granted me essential knowledge in molecular biology, structural biology, and machine learning. My Ph.D. thesis is in the field of systems biology. Currently, I am working on computational molecular design at Valence Discovery.