Consultant and Reader in Child Neurology
Area of expertise: child neurology, neuromuscular disorders, neurogenetics
Dr. Heinz Jungbluth is a Child Neurologist with a special interest in neuromuscular disorders. He leads the Neuromuscular Service at the Evelina Children’s Hospital, one of the largest Children’s Hospitals in Europe and the tertiary Paediatric referral centre for South London and the South East of England, and runs specialist clinics for children affected by childhood neuromuscular and neurological disorders.
Following graduation from the University of Cologne medical school in Germany, Heinz completed his specialty training in Paediatric Neurology and a PhD thesis on early-onset neuromuscular disorders in the United Kingdom. Heinz has been working as a Consultant Child Neurologist at the Evelina Children’s Hospital in London since 2004. He is also a Reader in Paediatric Neurology at King’s College London.
Heinz is a leading member of various national and international expert consortia concerned with improving the care and developing therapies for patients affected by neuromuscular disease.
- child neurology
- neuromuscular disorders
His main research interest is in neurogenetics. He has been leading the clinical and genetic characterization of a wide range of inherited neurological and neuromuscular disorders, and has published over 140 papers, reviews and chapters in scientific journals and books. He was awarded the Ronnie Mac Keith Prize of the British Paediatric Neurology Association in 2006 in recognition of his research activities.
Link to profile
at the conference #TogetherEvenStronger
On May 7, 2016 Heinz gave a talk at the family conference #TogetherEvenStronger. His topic was
The skeletal muscle ryanodine receptor – What does it do, why is it important, and how does it cause centronuclear myopathies and other muscle conditions in children?
The skeletal muscle ryanodine receptor (RYR1) gene plays an important role in normal muscle function. Changes in RYR1 cause a wide range of early-onset muscle disorders including centronuclear myopathy (CNM). This talk will summarize the role of RYR1 in muscle, common features of RYR1-related muscle disorders including CNM, approaches to their management and the current state of therapy development.
- Link to the conference book (pdf, bilingual English and German)
- pdf of the slides of the presentation
- video of the presentation ( in English translation)