Queen Square Inaugural Lectures: Professor Antonella Spinazzola and Professor Christos Proukakis

Antonella qualified with First Class Honours in Medicine from the Catholic University in Rome and she trained as neurologist at the "A. Gemelli" University Hospital, in Rome. Following the completion of her residency, she was awarded two postdoctoral fellowships, from the Italian National Research Centre and Telethon, to conduct studies on mitochondrial disorders at the Houston Merritt Clinical Research Centre, Columbia University (New York City). In the laboratory of Professor Hirano, Antonella and a colleague discovered the first nuclear gene defect causing mitochondrial DNA (mtDNA) dysfunction. The breakthrough launched the field of altered nucleotide metabolism and mitochondrial disorders. Back in Italy, she took up a Senior Clinical and Research fellowship at the National Institute of Neurology"C. Besta" in Milan. In the laboratory of Professor Zeviani, she developed further her interest in mtDNA maintenance, and identified, among others, the cause of another form of mitochondrial genomic instability disorders.

To advance her scientific skills and wishing to focus on elucidating the processes supporting the mtDNA metabolism, Antonella moved to the Medical Research Council Mitochondrial Biology Unit (MRC MBU), in Cambridge, and was awarded a Marie Curie Career Development Fellowship (IEF). Shortly thereafter, Antonella was invited by the then Director of MBU and Nobel Prize, Professor John Walker, to develop a programme of research, which was approved by the MRC. Thus, in January 2010 Antonella was appointed to career-track group leader position at MBU and began to address the fundamental question of how the biogenesis of the mitochondrion is achieved and regulated. In 2013 she was awarded an MRC senior non-clinical fellowship to continue to develop the programme of research at the MRC´s Mill Hill Laboratories (former National Institute for Medical Research)in London.

During the time spent in MRC Institutes Antonella absorbed the MRC ethos of tackling and aiming to unravel fundamental scientific problems of major medical importance. With the expectation that her skills and experience could be best applied to solving clinical problems in collaboration with the UK leading neurologists, she joined the UCL Institute of Neurology at the end of 2016. She was promoted to full Professor in 2018.

Professor Christos Proukakis (Professor of Neurology and Neurogenetics): "Searching for (DNA) needles in the (brain) haystack"

After general medical training and MRCP, Professor Proukakis completed a PhD at the UCL Clinical Neurosciences department on the genetics and cell biology of the SPAST gene / spastin protein, the commonest gene mutated in hereditary spastic paraplegia (HSP). In parallel, he collaborated in work that led to the discovery of novel genes for HSP and related disorders. His neurology specialist training was completed in and around London (Queen Square, King's, St Thomas', Hurstwood Park), with experience including neurogenetics, movement disorders, dementia, intensive care, and motor neuron disease.

He has been a Senior Lecturer in Clinical Neuroscience (then Associate Professor, and now Professor) and Consultant Neurologist at the Royal Free London NHS Trust since November 2009. His research in focused on the genetics of synucleinopathies, proposing and investigating a possible role of somatic mutations, and pioneering the use of long read sequencing to analyse the GBA gene. He maintains his clinical practice which centers on outpatients with Parkinson's disease and neurogenetic disorders.

“It was a delight to share my inaugural lecture with Professor Antonella Spinazzola, and receive a vote of thanks by Tony Schapira, our head of department who has been a great source of support ever since I was a Senior House Officer. The incredible environment at the Institute of Neurology has allowed me to develop and flourish as an investigator, and explore novel ideas and research methods in the genetics of synucleinopathies"