Enrico Bugiardini PhD

#

Consultant Neurologist and Research Associate


National Hospital for Neurology and Neurosurgery and University College London

Dr Bugiardini is a Consultant Neurologist and Research Associate at the National Hospital for Neurology and Neurosurgery and University College London (UCL), UK.

He completed his training in Medicine and Neurology at the University of Bologna and Milan respectively. During his Neurology Residency Training Program, he developed a specific interest in neuromuscular diseases and completed internships at leading international neuromuscular centres, including the MRC Centre for Neuromuscular Diseases in London. In 2020, he completed his PhD on the genetic basis of inherited myopathies and mitochondrial diseases at the Institute of Neurology (UCL). He has since introduced optical genome mapping to UCL and investigates genotype-phenotype correlations and gene modifiers in FSHD. Dr. Bugiardini’s main clinical and research interest is in FSHD, and he conducts clinical studies to validate outcome measures and accelerate drug development. Dr. Bugiardini also undertakes clinical activity in dedicated specialized clinics for Muscle Diseases at the Queen Square Centre for Neuromuscular Diseases in London.

See also: https://www.ucl.ac.uk/centre-for-neuromuscular-diseases/people/dr-enrico-bugiardini-bio

Grants Awarded
Understanding global genetic diversity in FSHD and building international trial readiness
Jun 1, 2023
Research - Clinical
Through this study, we hope to (1) deliver a better understanding of FSHD in populations from India and Brazil, (2) assemble a large and diverse cohort of FSHD families who may then be able to access future clinical trials, and (3) provide important data to demonstrate the applicability of optical genome mapping for FSHD diagnostics, which could help to establish in-country testing.