Websites
Research groups
BIOGRAPHY
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.
Carlo Rinaldi
MA MD PhD
Professor of Molecular and Translational Neuroscience
- UKRI MRC Senior Clinical Fellow
- Honorary Consultant Neurologist
- Director of Graduate Studies
Research Summary
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.
For more info, visit the R-lab web page.
Key publications
A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy.
Journal article
Bott LC. et al, (2016), Hum Mol Genet, 25, 1979 - 1989
MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy.
Journal article
Pourshafie N. et al, (2016), Mol Ther, 24, 937 - 945
Proteostasis and Diseases of the Motor Unit.
Journal article
Rinaldi C. et al, (2016), Front Mol Neurosci, 9
Muscle matters in Kennedy's disease.
Journal article
Rinaldi C. et al, (2014), Neuron, 82, 251 - 253
Cowchock syndrome is associated with a mutation in apoptosis-inducing factor.
Journal article
Rinaldi C. et al, (2012), Am J Hum Genet, 91, 1095 - 1102
Recent publications
Accurately modeling RNase H-mediated antisense oligonucleotide efficacy.
Journal article
Hill B. et al, (2026), Mol Ther Nucleic Acids, 37
Muscle MRI as an Imaging Biomarker of Muscle Damage in Patients With Spinal and Bulbar Muscular Atrophy.
Journal article
Grunseich C. et al, (2026), Neurology, 107
Accurately modelling RNase H-mediated antisense oligonucleotide efficacy
Preprint
Hill B. et al, (2025)
Tissue-specific modulation of CRISPR activity by miRNA-sensing guide RNAs.
Journal article
Garcia-Guerra A. et al, (2025), Nucleic Acids Res, 53
Tissue-specific modulation of CRISPR activity by miRNA-sensing guide RNAs
Preprint
Garcia-Guerra A. et al, (2024)
PRMT inhibitor promotes SMN2 exon 7 inclusion and synergizes with nusinersen to rescue SMA mice.
Journal article
Kordala AJ. et al, (2023), EMBO Mol Med, 15
A modular RNA delivery system comprising spherical nucleic acids built on endosome-escaping polymeric nanoparticles.
Journal article
Garcia-Guerra A. et al, (2023), Nanoscale Adv, 5, 2941 - 2949
LSD1/PRMT6-targeting gene therapy to attenuate androgen receptor toxic gain-of-function ameliorates spinobulbar muscular atrophy phenotypes in flies and mice.
Journal article
Prakasam R. et al, (2023), Nat Commun, 14