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Carlo Rinaldi

Carlo Rinaldi completed his medical education and residency in adult neurology in 2010 both with distinction at the University of Federico II, Naples, Italy. In 2009 he joined the Neurogenetics Branch at the National Institute of Health (Bethesda, MD, USA) under the supervision of prof. Fischbeck, to work on the mechanisms of pathogenesis of spinal and bulbar muscular atrophy (SBMA or Kennedy’s disease) and other genetic diseases of the motor unit and where he also obtained a PhD in Neuroscience with the thesis entitled: ‘From Disease Gene Identification to Therapeutic Targets in Neuromuscular Diseases’. In 2015 he joined the lab of Prof. Matthew Wood at the University of Oxford as a Clinical Research Fellow and in December 2016 was awarded a Wellcome Trust Career Development Fellowship, followed by a UKRI MRC Senior Clinical Fellowship in 2023 to establish his independent research lab (https://www.rinaldi-lab.com/). He is an Honorary Consultant Neurologist at the John Radcliffe Hospital in Oxford and at the National Hospital for Neurology and Neurosurgery in London and Principal Investigator in the recently established Oxford-Muscular Dystrophy UK Centre for Translational Neuromuscular Science Centre.

Ambra Speciale

Ambra Speciale obtained her Bachelor’s degree in Biomedical Laboratory Techniques in 2016 and a Master’s degree in Medical Biotechnologies in 2018, both from the University of Catania, Italy. She is currently in the final year of her DPhil at the University of Oxford, working in Professor Carlo Rinaldi’s lab. Her research focuses on understanding the molecular mechanisms of Spinal and Bulbar Muscular Atrophy (SBMA) and other repeat expansion disorders, with the goal of identifying potential therapeutic strategies for these conditions. Throughout her DPhil, Ambra has participated in numerous SBMA-focused conferences and events to present her research. In addition to her research, she is actively involved in public engagement and science communication. She founded a Women in STEM (Science, Technology, Engineering, and Mathematics) club at her college, St Edmund Hall, where she regularly organizes events that promote inclusivity within the scientific community.

Francis Grafton

Francis completed her Bachelor’s in Science from McGill University where she received a dual degree in Physics and Physiology. In 2018, she joined Tenaya Therapeutics (South San Francisco, CA) as a research associate where she contributed to the identification of cardioprotective targets using high-throughput screening, development of small molecule therapies, and cardiovascular disease modeling through patient and CRISPR/Cas9 engineered stem cell derived cardiomyocytes. In 2022, she joined Ascend Gene and Cell Therapies (Alameda, CA) as a senior research associate, focusing on improving adeno-associated virus (AAV) production. Currently, Francis is a DPhil student at the University of Oxford in the Department of Paediatrics. She is investigating the role of the androgen receptor in skeletal muscle and the molecular basis of transcriptional dysregulation in Kennedy’s Disease.