Carlo Rinaldi completed his medical education in 2005 and his 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. Wood at the University of Oxford as a Clinical Research Fellow and in December 2016 was awarded a Stage 2 Wellcome Trust Clinical Research Career Development Fellowship. He is an Honorary Consultant Neurologist at the John Radcliffe Hospital in Oxford and at the National Hospital for Neurology and Neurosurgery in London.
Wellcome Trust Clinician Scientist Honorary Consultant Neurologist
The overall purpose of my research is to reduce the burden of hereditary neurological disease. This goal is pursued through three strategic aims: (1) identification of genes associated with neurological diseases, (2) advancement of the current understanding of the molecular mechanisms of pathogenesis in these diseases, and (3) development of effective treatments for hereditary neurological diseases.
My focus is the study of SBMA and other neuromuscular conditions with an unmet clinical need, where aberrant protein species accumulates as a result of a global impairment of key cellular processes governing protein synthesis/degradation and repair mechanisms, also known as the proteostasis network. The growing number of connections between dysfunction of this intricate network of pathways and diseases of the motor unit, where both motor neurons and muscle are primarily affected, has provided momentum to investigate the muscle- and motor neuron-specific response to physiological and pathological stressors and to explore the therapeutic opportunities that manipulation of this process may offer. Furthermore, these diseases offer an unparalleled opportunity to deepen our understanding of the molecular mechanisms behind the inter-tissue communication and transfer of signals of proteostasis. The most compelling aspect of these investigations is their immediate potential for therapeutic impact: targeting muscle to stem degeneration of the motor unit would represent a dramatic paradigm therapeutic shift for treating these devastating diseases.