David Beeson graduated from Magdalene College, Cambridge. He did his PhD with Professor Eric Barnard at Imperial College, London focusing on the first cloning of muscle acetylcholine receptors. Before completion of his PhD in 1987, he joined the Group of John Newsom-Davis and Angela Vincent to work on disorders of neuromuscular transmission; this was first at the Royal Free Hospital, London and then in 1988 he moved with them to the Neurosciences Group at the Weatherall Institute of Molecular Medicine, University of Oxford. In 1998 he won an MRC Senior Non-Clinical Fellowship, which was renewed in 2003. In 1995 he was made an Honorary University Lecturer, and in 2004 was awarded a personal chair.
Awards Training and Qualifications
- BA, MA, Magdalene College, Cambridge
- PhD, Imperial College
- 1995 Honorary University Lecturer, Oxford
- 2004 Professor (personal chair), Oxford
My group (Neuromuscular Disorders) studies inherited disorders of neuromuscular transmission, known as congenital myasthenic syndromes. To date, mutations in at least 14 different genes have been shown to cause these disorders, and it is an exciting time now with the advent of next generation sequencing likely to uncover more. We aim to identify candidate genes, define underlying mutations, investigate the disease mechanisms at the molecular level, and then explore new therapeutic strategies.
The neuromuscular junction is both well understood and accessible for study. Functional analysis of mutations at the molecular level can be directly correlated with measurements of defective synaptic transmission in vivo and with the clinical features of the patients. Thus a detailed knowledge of inherited dysfunction of neuromuscular transmission forms a paradigm for investigation of other neurological syndromes that may result from defective synaptic transmission in the CNS. A particular current focus of the group is on mutations that affect the formation and maintenance of the synaptic structure.
The success of the work has led to the group being commissioned to provide a National Service for mutation detection and treatment of congenital myasthenic syndromes which is funded by the National Commissioning Group of the NHS.
Sources of Funding
- MRC Programme Grant
- Myasthenia Gravis Association
- Muscular Dystrophy Campaign
- Wellcome Trust
Presynaptic congenital myasthenic syndrome due to three novel mutations in SLC5A7 encoding the sodium-dependant high-affinity choline transporter.
Rodríguez Cruz PM. et al, (2020), Neuromuscul Disord
Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structure.
Rodríguez Cruz PM. et al, (2020), Hum Mutat, 41, 619 - 631
Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series
Taylor J. et al, (2019), Genome Medicine, 11
β2-Adrenergic receptor agonists ameliorate the adverse effect of long-term pyridostigmine on neuromuscular junction structure.
Vanhaesebrouck AE. et al, (2019), Brain
The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies.
Vanhaesebrouck AE. and Beeson D., (2019), Curr Opin Neurol, 32, 696 - 703