People

Prof Robert Pitceathly completed his clinical studies and neurology specialist training in Manchester. Following this, he obtained a PhD in Mitochondrial Diseases at the UCL Queen Square Institute of Neurology, where he is now Head of Research Department of Neuromuscular Diseases and leads a mitochondrial disease research group. Prof Pitceathly is Honorary Consultant at the National Hospital for Neurology and Neurosurgery, co-leading the NHS England Rare Mitochondrial Disorders Service.

Dr Micol Falabella is a Senior Research Fellow at the UCL Queen Square Institute of Neurology. She trained at Sapienza University of Rome and the University of Pittsburgh before continuing her research career in the UK. Her research focuses on mitochondrial biology and bioenergetics in neuromuscular and neurodegenerative disorders, including frontotemporal dementia. She supervises and mentors junior researchers.

Dr William Macken is an Honorary Consultant in Clinical Genetics and Genomic Medicine at Great Ormond Street Hospital and the National Hospital for Neurology and Neurosurgery, and a Senior Research Fellow at UCL. He specialises in mitochondrial disease, running clinics at both hospitals. His research focuses on translating emerging technologies into diagnostics for especially for undiagnosed patients. He is published widely and supported by The Lily Foundation and Muscular Dystrophy UK.

Dr Chiara Pizzamiglio is a Consultant Neurologist and Senior Research Fellow specialising in inherited metabolic diseases. She completed her PhD at UCL with Prof Pitceathly’s lab, focusing on biomarkers and muscle MRI in primary mitochondrial diseases. She works within the NHS Highly Specialised Mitochondrial Service and leads the UK Highly Specialised Service for McArdle disease and related disorders, with a research focus on MRI biomarkers, outcome measures, and clinical trials.

Adelina 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 and NHS clinical study Lily Precision Diagnostics project. Adelina graduated from the University of Sydney, Australia, with a BMedSc and an Honours degree investigating haematopoiesis in embryonic mouse tissues, and since has worked at Kyushu University, the Charles Perkin Centre, and the ANZAC Research Institute.

Jana Aref obtained a BSc in Applied Medical Sciences from UCL in 2022, then an MSc in Clinical Neuroscience in 2023. In January 2024, Jana joined the Pitceathly Research Group as a research assistant, where she contributed to various aspects of wet lab work, including characterising mitochondrial dysfunction in cardiolipin disease and assessing mitochondrial bioenergetics in FTD. She started her PhD in February 2026, where she is developing gene therapies for POLG-related mitochondrial disease.

Jiaze Gao completed her BSc in Pharmaceutical Biotechnology at China Medical University and Queen’s University Belfast in 2023, followed by an MSc in Genetics of Human Disease at UCL in 2024. During her MSc, Jiaze undertook a research project in the Pitceathly lab focused on investing biallelic COX4I1 variants and their effects on mitochondrial bioenergetics and metabolism. She joined the lab as a research assistant in November 2024 and plans to pursue a PhD. 

Renata is a Senior Research Fellow in Bioinformatics. She hold an MSc and a PhD in Bioinformatics from Birkbeck, University of London. Before joining the Pitceathly lab, Renata’s research spanned Sleep Science and ALS. As part of the Lily Precision Diagnostics Project, she applies novel bioinformatics approaches using Whole Genome Sequencing, RNA sequencing, and Long Read Sequencing to help uncover genetic causes of mitochondrial disease.

Áine obtained a BSc in Biology from the University of York in 2016, followed by a PhD in neuropsychiatric genetics at Cardiff University focusing on schizophrenia risk associated with 22q11.2 deletion syndrome, undertaking genetic and functional investigation. She then attained HCPC registration as a Clinical Scientist in genomics and joined the North Thames Genomics Service in 2024 as a Translational Clinical Scientist, working to aid diagnosis & service developments in mitochondrial disorders.

Dr Kathryn Oprych studied medicine at St George’s University of London, where she also completed a first-class BSc in Human Genetics. She is a Specialist Registrar in Clinical Genetics in London and completed an MSc in Genomic Medicine with Distinction. In January 2025, Kathryn joined the Pitceathly Research Group at the UCL Queen Square Institute of Neurology as a Clinical Research Fellow and is currently undertaking a PhD in mitochondrial disease. 

Tamara Hill is a bioinformatician in mitochondrial disease research, joining the Pitceathly Research Group in 2024 as a Research Assistant, where she develops and implements bioinformatics pipelines. She began her career in financial analysis before transitioning into computational biology, completing a MSc in Bioinformatics in 2024. Tamara is undertaking a PhD in improving interpretation of structural variants in mitochondrial disease using modern sequencing and computational technologies.

Dr Rubing Shi received her PhD in Neurobiology from Shanghai Jiao Tong University, Shanghai, China. During her doctoral studies, she focused on developing stem cell and gene therapy approaches for cerebrovascular diseases, with a particular emphasis on ischemic stroke. Building on the background, Rubing joined the Pitceathly lab in October 2025 and is currently working on adeno-associated virus (AAV)-based gene therapy strategies for nuclear DNA–related primary mitochondrial diseases.

Dr. Manori Thambiliyagodage is a Clinical Fellow in mitochondrial imaging undertaking a PhD in MRI biomarkers of primary mitochondrial disease. She is a paediatric neurology trainee from University of Colombo Sri Lanka and has completed her MD and DCH. She has completed her fellowship at Great Ormond Street Hospital for Children NHS Foundation Trust.