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Current lab members

Robert Pitceathly

I completed my preclinical and clinical medical degree at St Andrews’ and Manchester Universities before commencing my post-graduate neurology specialist training in Manchester. I subsequently undertook a PhD in Mitochondrial Diseases at the UCL Queen Square Institute of Neurology before obtaining an NIHR academic clinical lecturer post in London. From March 2019 I started a MRC Clinician Scientist Fellowship with Honorary Consultant status at the National Hospital for Neurology and Neurosurgery, where I co-lead  the NHS England nationally commissioned Rare Mitochondrial Disorders Service. My research combines clinical observations with laboratory approaches to better understand the molecular basis and pathophysiological mechanisms of primary mitochondrial diseases, with the ultimate aim of developing treatments. My laboratory focuses on three major research themes that crosscut mitochondrial biology and translational science. These include: 1) Establishing the global prevalence and genetic architecture of mitochondrial diseases; 2) Understanding the role of cardiolipin in mitochondrial health and disease; and 3) Generating effective therapies for mitochondrial diseases.

Rob Pitceathly

Micol Falabella

Dr Micol Falabella received an MSc in Pharmaceutical Chemistry, and subsequently a PhD in Biochemistry, from Sapienza University, Rome, Italy. Her PhD thesis focussed on the effects of gasotransmitters (e.g., NO and H2S) on mitochondrial respiratory chain function in primary mitochondrial disorders. In 2016, she moved to the University of Pittsburgh, USA, for her postdoctoral research training where she studied the molecular mechanisms regulating mitochondrial genome stability. Micol joined the group in September 2019 and is currently investigating the effects of impaired cardiolipin metabolism in mitochondrial diseases.

 

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    William Macken

    I am an early career researcher (Academic Clinical Lecturer) in genomics focusing on mitochondrial disease. I'm based at UCL Queen Square Institute of Neurology (Pitceathly Lab) and Great Ormond Street Hospital for Children (Clinical Genetics). I studied medicine at University College Dublin and undertook paediatric training in Dublin and London before entering subspecialty training in Clinical Genetics in Southampton. I have completed an MSc in Genomic Medicine at Imperial College London and a PhD in Primary Mitochondrial Disease Genomics with Professors Rob Pitceathly and Mike Hanna and Dr Jana Vandrovcova in UCL.

    During my PhD I worked as a fellow in the MRC International Centre for Genomic Medicine in Neuromuscular Diseases with a special interest in mitochondrial disease and data diversity in Indian populations with neurological diseases. My research interests focus on translating genomic technologies such as RNA and long-read sequencing to diagnostics and identifying new causes of syndromic genetic diseases.

    I am very grateful to be funded by the Lily Foundation's precision diagnostics project to which aims to accelerate introduction of new diagnostic pipelines and technologies into the NHS for patients with suspected mitochondrial disease.

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    Chiara Pizzamiglio

    Dr Chiara Pizzamiglio completed her training in Medicine and Neurology at the University of Milan and Novara (Italy). During her Neurology Residency, she developed a strong interest in neuromuscular disorders and subsequently completed her training program with an 8-month attachment to the MRC Centre for Neuromuscular diseases, The National Hospital for Neurology and Neurosurgery, London.

    She successfully secured a Clinical Research Fellowship to pursue a PhD in mitochondrial diseases at the Queen Square Institute of Neurology in January 2020. Her research project will focus on rare and novel disease-causing genes linked to cardiolipin and phospholipid metabolism, in addition to genotype-phenotype studies and clinical trials in mitochondrial disorders

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    Javier Bautista

    Javier Bautista received his BSc in Biomedical Sciences from UCL and subsequently secured a prestigious Medical Research Council Doctoral Training Partnership. Following a year of lab rotations, he decided to pursue a PhD at the UCL Queen Square Institute of Neurology, commencing in October 2020. His research will involve characterising the role of cardiolipin in neurodegeneration, with a focus on frontotemporal dementia. Javier’s other interests include global health advocacy, science policy, LGBTQ+ activism, and entrepreneurship.

    Javier Bautista

     

    Caroline McKittrick

    Dr Caroline Mckittrick visited from Imperial College London where she undertook an MSc in Genomic Medicine. Inspired by her niece Poppy, who has mitochondrial disease, her research project will characterise the genomics of mitochondrial diseases within the 100,000 Genomes project. Caroline studied medicine at King’s College London and qualified as a GP following a previous career in management consulting.

    Caroline returned to the UCL Queen Square Institute of Neurology in September 2021 to commence a PhD to study non-coding variants as a potential cause for mitochondrial diseases.

     

     

    Yidi Zhang

    Yidi Zhang studied clinical pharmacy at Guangdong Pharmaceutical University in China from 2013 to 2018. She then pursued an MSc at Sun Yat-sen University where she majored in pharmacology, focusing on iPSC induction and severe asthma treatment. Yidi started her PhD at the UCL Queen Square Institute of Neurology in October 2021. She will focus on generating patient-derived and other cell-based models of mitochondrial dysfunction to test advanced therapeutics for primary mitochondrial diseases.

     

     

     

     

     

    Adelina Romano

    Adelina Romano joined the Pitceathly Research Group as a research coordinator in April 2023 and manages several projects, including the MRC National Mouse Genetics Network’s MitoCluster. Adelina graduated from the University of Sydney, Australia, with a BMedSc and an Honours degree investigating haematopoeitic cell populations in embryonic mouse tissues. Following this, she further explored her interest in medical research working with laboratories at the Heart Research Institute in Sydney, Kyushu University (Japan), the Charles Perkins Centre, and the ANZAC Research Institute.  

    caroline mckittrick

    Yidi Zhang

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    Alumni

    Ukrit Angkawinitwong

    Dr Ukrit Angkawinitwong is a postdoctoral research assistant at the UCL School of Pharmacy. He is currently exploring formulation technologies to develop effective delivery systems for NAD+ precursors into cells. He will develop muscle cells from iPSCs derived from patients with mitochondrial disease as a model to evaluate the efficacy of lead formulations in preclinical and proof-of-concept studies, with the ultimate aim of restoring mitochondrial bioenergetics associated with mitochondrial diseases

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    Olivia Poole

    Dr Olivia Poole returned to clinical practice in Kent to complete her neurology training and develop her interest in epilepsy related to mitochondrial diseases after undertaking a PhD at UCL Queen Square Institute of Neurology. She hopes to use her research experience in her future career to improve knowledge and treatments in this challenging aspect of mitochondrial disease.

     

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    Alex Clout

    Dr Alex Clout is now a researcher for the North West Centre for Advanced Drug Delivery (NoWCADD, based at The University of Manchester, and is working on the development of lipid based drug depots for sustained release.

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    Alexis Cassecuelle

    Alex undertook an MSc Clinical Neuroscience and research project in mitochondrial diseases at UCL Queens Square Institute of Neurology and is now undertaking a master’s degree in cognitive Neuroscience at the ENS in Paris.

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    Reem Salem

    Reem undertook a research project that focussed on mitochondrial DNA variants in patients with hypertrophic cardiomyopathy as part of her final year BSc Human Genetics research project at UCL. After completing her undergraduate degree she successfully secured a position at Brighton and Sussex Medical School to study medicine. She has developed a strong interest in DNA damage in breast cancer cells and is keen to participate in further research during her future career.

     

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    Shanti Lu

    Shanti Lu received her BSc in Biomedical Sciences from Newcastle University in 2020. During her degree, and after a summer placement at the National Institutes of Neurological Disorders and Stroke (Maryland, USA), she developed a strong interest in Neuroscience. Shanti pursued an MSc in Clinical Neuroscience at UCL when she focused on in-situ profiling of mitochondrial biomarkers, FGF21 and GDF15, in the muscle tissue of adults and children with mitochondrial disease. After working as a dementia Healthcare assistant, Shanti returned to UCL Queen square Institute of Neurology in February 2022 to join the Pitceathly Research Group as a research technician. Shanti contributed to all aspects of wet lab work, with a particular focus on investigating how defective cardiolipin-related genes cause mitochondrial dysfunction. Since leaving the team Shanti has moved to Budapest, Hungary, to complete a medical degree. 

    Shanti Lu

     

    Aya Tarabeine

    Aya Tarabeine earned her BSc in Cognitive and Clinical Neuroscience from the University of Westminster. She then secured an internship at the UCL School of Pharmacy investigating the therapeutic potential of PPAR-γ agonists in promoting neurite outgrowth, prior to joining the Pitceathly Research Group at UCL Queen Square Institute of Neurology to complete an MRes in Translational Neuroscience. This research involved constructing and characterising viral vector in vitro models of primary mitochondrial diseases for novel small molecule screening, with a focus on mutations found in the cardiolipin biosynthesis pathway, and a subunit of complex I. Outside the lab, Aya finds fulfilment in hosting an independent podcast, and advocating for social mobility. 

     

     

     

    Toma Ogawa

    Toma Ogawa commenced a BSc in Biomedical Sciences at UCL in 2021. He developed an interest in molecular and mitochondrial biology through a second-year literature project supervised by Professor Michael Duchen, which explored the mechanisms and new approaches in treating primary mitochondrial disease. He undertook a summer internship with the Pitceathly Research Group in 2023, to develop the laboratory skills required to characterise and build in vitro models of primary mitochondrial diseases (POLG and cardiolipin genes). 

    Aya Tarabeine

    Toma Ogawa