Heinz Jungbluth is Professor of Paediatric Neurology at King’s College London and Consultant Paediatric Neurologist at the Evelina Children’s Hospital, Guy’s & St Thomas’ NHS Foundation Trust, London, UK, with more than 25 years clinical experience in Paediatric Neurology in both Germany and the United Kingdom.
His main research interest is in early-onset neuromuscular and neurodevelopmental disorders. He has been leading the genetic and phenotypic characterization of congenital myopathies, in particular those affecting excitation-contraction coupling due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene, and related episodic disorders such as malignant hyperthermia (MH) and (exertional) rhabdomyolysis (ERM). He and his team have also introduced the concept of congenital disorders of autophagy, a novel class of inborn neuromuscular and neurometabolic conditions linking aberrant neurodevelopment with common adult-onset neurodegenerative disorders such as dementia, PD and ALS.
He has published more than 240 peer-reviewed papers and chapters in key textbooks. He is a member of national and international expert consortia concerned with improving the care and developing therapies for early-onset neuromuscular and neurological disease.
