WIMM PI
Curriculum Vitae
Personal Data
Name
Nationality
Email
David Beeson
UK
david.beeson@ndcn.ox.ac.uk
Present Position
Senior Research Fellow, Head of the Neurosciences Group,
Weatherall Institute of Molecular Medicine, Nuffield Department of Clinical Neuroscience,
2004 - present Professor in Neuroscience (personal chair) Nuffield Department of Clinical
Neuroscience, University of Oxford
1995 - present
Department of Clinical Neurology, University of Oxford Honorary University
Research Lecturer
Previous Positions
2003 - 2008
MRC Senior Non-Clinical Fellow (Renewal by MRC) Neurosciences Group,
Weatherall Institute of Molecular Medicine, Department of Clinical
Neurology, University of Oxford
1998 - 2003
MRC Senior Non-Clinical Fellow (MRC) Neurosciences Group, Weatherall
Institute of Molecular Medicine, Department of Clinical Neurology,
University of Oxford
1988 – 1998
Senior Research Fellow (Muscular Dystrophy Group) Neurosciences
Group, Institute of Molecular Medicine, Department of Clinical Neurology,
University of Oxford
1985 – 1988
Research Fellow (Muscular Dystrophy Group) Department of Neurology,
Royal Free Hospital, University of London.
1984 - 1985
Research Assistant (G.D. Searle) G.D.Searle Research Laboratories, High
Wycombe
Research Achievements
Over the past 25 years my work has focused on disorders of neuromuscular transmission.
We have used molecular genetic techniques combined with electrophysiology to uncover the
underlying mechanisms of disease in a series of related genetic syndromes and translated
this understanding to the clinic to provide, in many cases, remarkable and dramatic
improvements in health.
In the early adoption of molecular genetics we were the first to isolate cDNA and genomic
clones for all five human AChR subunits. Additional key molecules at the neuromuscular
junction were also cloned and characterised. The cloning work provided the data for
mutational screening of candidate genes and the materials for functional studies to
demonstrate mutation pathogenicity and investigate underlying disease mechanisms. We
have focussed on inherited (congenital) myasthenic syndromes (CMS). Numerous
mutations were identified in the AChR subunit genes, while functional analysis showed both
the direct correlation of mutations with disease and a diverse series of pathogenic molecular
mechanisms. The work also provided proof-of-principle of allele-specific-silencing using
RNAi.
We have gone on to define and characterise pathogenic molecular mechanisms for
mutations in a series of genes that govern the formation of the neuromuscular synapse.
These include showing mutations in Dok-7 underlie a major form of CMS. Recently we
identified mutations in DPAGT1, GFPT1, ALG2 and ALG14 as causes of CMS. These genes
all code for proteins that are involved in the early stages of N-linked glycosylation and thus,
we have identified a new pathway where mutations cause disorders of synaptic transmission.
The success of this program of research on CMS led the National Commissioning Group of
the NHS to commission the team in Oxford to provide a national specialist service for CMS.
The combination of clinical service and research laboratory provide a prime example of
translational research of bedside to bed and back, with the research generating data that
can be used directly to make a striking difference to patient well-being.
What are the Future Aims of Your Current Group?
We are able to locate mutations in about 80% of patients with clinically definite CMS (19
genes). We would like to identify the new genes where mutations are located for the
remaining 20%. The newly available next generation sequencing techniques are proving
invaluable in this work – we have already identified 3 new CMS-associated genes and expect
to find a number more. An ongoing aim will be to determine the molecular mechanism of how
mutations in these newly identified genes impair neuromuscular transmission, which in turn
provides a rational basis for therapy. For example, we now wish to determine how mutations
in ubiquitously expressed proteins in the N-linked glycosylation pathway causes a disorder
with symptoms restricted to impaired neuromuscular transmission.
At present we subdivide patients into those where the signal transmission across the
synapse is directly affected and those where the synaptic structure and stability are affected.
In the latter category, treatment with 2-adrenergic receptor agonists (that we have
pioneered), has a remarkable beneficial effect, but we do not understand why. We aim to find
out the mechanism for this action, with the potential for further optimization of treatment. Part
of this work will be to look at the stability of various synaptic membrane proteins and we are
keen to apply (with Christian Eggeling) high resolution microscopy techniques in order to
visualize synaptic components. For example, we wish to visualize AChR mobility when its
anchoring protein, RAPSN, harbours mutations.
Finally, we have built a series of animal models that reflect the human disorders. These
include models in which the AChR is tagged with EGFP. We would aim to use these models
to: i) study beneficial effects of potential new treatments, both new drugs and gene therapies;
and ii) to visualize in vivo the changes to the neuromuscular junction that occur during
disease progression.
How do These Aims Contribute to the Understanding and/or Management of Human
Disease
Our work is closely integrated with the clinic and forms part of the service for the National
Referral Centre for the Congenital Myasthenic Syndromes that is jointly based at the West
Wing at The John Radcliffe, the genetics laboratories at the Churchill, and the Weatherall
Institute. We offer a service from bedside to bench and back, translating the work in the
laboratory directly back to patient care.
Over the past 20 years we have defined molecular mechanisms of disease for over 400
different mutations present in 19 different genes. Within a gene it is possible to have
mutations that cause disease in at least 5 different ways, each of which requires a different
treatment regime. Understanding of the disease mechanism is fed back to the clinicians who
can then institute appropriate therapy. It is not yet possible to predict the functional effect of
many of the missense mutations we detect, and therefore analysis of the mutations is crucial
for the clinicians. Therapy is very much tailored to the individual with six different drugs
given in different combinations depending upon which of 19 genes is mutated and underlying
molecular mechanism. Optimisation of therapy can lead to dramatic and sustained
improvement in patient quality of life, with many children who first come to clinic in a wheel
chair able to run or walk about within six months, and many are able to go on to lead a near
normal life.
In addition to tailored therapy, the work provides the basis for the standard advice for
mendelian disorders of genetic counseling, prenatal diagnosis, and disease prognosis. On a
larger scale, what is learnt about synaptic dysfunction and synaptic stability is likely to have
implications for a number of disorders in the central nervous system, such as for certain
autistic spectrum disorders.
Lay Summary of Research
Muscles contract in response to signals from the brain. Crucial sites for this process are the
points where the nerves meet the muscles. These specialised sites, known as
neuromuscular junctions, have evolved to allow rapid transfer of signals from nerves to
muscles. A group of muscle diseases termed ‘myasthenic disorders’ are caused by
defective transmission at the neuromuscular junction. The myasthenic disorders have
muscle weakness that can be life-threatening in severe cases, and have a characteristic
‘fatiguability’ whereby the more a muscle is exercised the weaker it becomes. They are
caused either through inheriting faulty genes or through a defective immune system where
the patient’s own antibodies attack the neuromuscular junction. Our work focuses on
inherited defects of nerve-muscle signalling. We have been able to identify mutations in at
least 15 different genes that cause myasthenic disorders and believe that there are several
more that have not yet been located. Once a mutation is identified we aim to find out how it
affects signal transmission; it could generate too much signal, too little signal, or cause
structures at the junction to become unstable. Once we identify what is defective, we can
feed the information back to clinicians, who can tailor treatment for the individual patient and
prescribe appropriate drug therapies. In many cases with the right therapies we can achieve
a dramatic improvement in patient quality of life. However, in some cases treatment leads to
only modest improvement, and for these cases we aim to investigate new therapies in model
systems in the laboratory. We are particularly interested in drug treatments that might
stabilise the structures of the neuromuscular junction since these may have implications for
treating brain disorders where there are learning difficulties or memory loss.
All Publications Over the Past 5 Years
Rodríguez Cruz PM, Sewry C, Beeson D, Jayawant S, Squier W, McWilliam R, Palace J.
Congenital myopathies with secondary neuromuscular transmission defects; A case report
and review of the literature. Neuromuscul Disord. 2014 Jul 30. pii: S0960-8966(14)00613-0.
doi: 10.1016/j.nmd.2014.07.005. [Epub ahead of print]
Illingworth MA, Main M, Pitt M, Feng L, Sewry CA, Gunny R, Vorstman E, Beeson D,
Manzur A, Muntoni F, Robb SA. RYR1-related congenital myopathy with fatigable
weakness, responding to pyridostigimine. Neuromuscul Disord. 2014 Aug;24(8):707-12. doi:
10.1016/j.nmd.2014.05.003. Epub 2014 May 23
Parr JR, Andrew MJ, Finnis M, Beeson D, Vincent A, Jayawant S. How common is
childhood myasthenia? The UK incidence and prevalence of autoimmune and congenital
myasthenia. Arch Dis Child. 2014 Jun;99(6):539-42. doi: 10.1136/archdischild-2013-304788.
Epub 2014 Feb 5.
Webster R, Liu WW, Chaouch A, Lochmüller H, Beeson D. Fast-channel congenital
myasthenic syndrome with a novel acetylcholine receptor mutation at the α-ε subunit
interface. Neuromuscul Disord. 2014 Feb;24(2):143-7. doi: 10.1016/j.nmd.2013.10.009.
Epub 2013 Nov 6.
Koneczny I, Cossins J, Waters P, Beeson D, Vincent A. MuSK myasthenia gravis IgG4
disrupts the interaction of LRP4 with MuSK but both IgG4 and IgG1-3 can disperse
preformed agrin-independent AChR clusters. PLoS One. 2013 Nov 7;8(11):e80695. doi:
10.1371/journal.pone.0080695. eCollection 201
Klein A, Pitt MC, McHugh JC, Niks EH, Sewry CA, Phadke R, Feng L, Manzur AY, Tirupathi
S, Devile C, Jayawant S, Finlayson S, Palace J, Muntoni F, Beeson D, Robb SA. DOK7
congenital myasthenic syndrome in childhood: Early diagnostic clues in 23 children.
Neuromuscul
Disord.
2013
Jul
3.
doi:pii:
S0960-8966(13)00171-5.
10.1016/j.nmd.2013.06.002. [Epub ahead of print]
Webster RG, Cossins J, Lashley D, Maxwell S, Liu WW, Wickens JR, Martinez-Martinez P,
de Baets M, Beeson D. A mouse model of the slow channel myasthenic syndrome:
Neuromuscular physiology and effects of ephedrine treatment. J. Exp Neurol. 2013 Jun
21. doi:pii: S0014-4886(13) 00185-4.10.1016/j.expneurol.2013.06.012. [Epub ahead of
print]
Basiri K, Belaya K, Liu WW, Maxwell S, Sedghi M, Beeson D. Clinical features in a large
Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in
DPAGT1. Neuromuscul Disord. 2013; 23:469-72.
Zoltowska K, Webster R, Muller J, Maxwell S, Cossins J, Lochmuller H, Beeson D.
Mutations in GFPT1 that underlie limb-girdle congenital myasthenic syndrome result in
reduced cell-surface expression of muscle AChR. Hum Mol Genet. 2013; 22(14):290513.
Finlayson S, Palace J, Belaya K, Walls T, Burke G, Holton J, Pascual Pascual S, Cossins J
Beeson D. Clinical features of congenital myasthenic syndrome due to mutations in
DPAGT1 J Neurol Neurosurg Psychiatry 2013 Feb 27. [Epub ahead of print]
Cossins J, Belaya K, Hicks D, Salih M, Finlayson S,Carboni N, Liu WW, Maxwell S,
Zoltowska K, Golara Farsani G, Laval S, Seidhamed M, "WGS500 consortium", Donnelly
P, Bentley D, McGowan S, Müller J, Palace J, Lochmüller H, Beeson D. Congenital
myasthenic syndromes due to mutations in ALG2 and ALG14. Brain 2013 Mar;136(Pt
3):944-56.
Burke G, Hiscock A, Klein A, Niks E, Mansur A, Ng J, de Vile C, Beeson D, Muntoni F and
Robb, S. (2012). Salbutamol benefits children with congenital myasthenic syndrome due
to DOK7 mutations. Neuromuscul. Disord. 2013 Feb;23(2):170-5.
Finlayson S, Beeson D, Palace J. Congenital myasthenic syndromes: An update. Pract
Neurol 2013 Apr;13(2):80-91.
Finlayson S, Spillane J, Kullmann DM, Howard R, Webster R, Palace J, Beeson D. Slow
channel congenital myasthenic syndrome responsive to a combination of fluoxetine and
salbutamol. Muscle Nerve. 2013 Feb;47(2):279-82.
Cossins J, Belaya K, Zoltowska K, Koneczny I, Maxwell S, Jacobson L, Leite MI, Waters P,
Vincent A, Beeson D. The search for new antigenic targets in myasthenia gravis. Ann N
Y Acad Sci. 2012 Dec;1275(1):123-8.
Beeson D. Synaptic dysfunction in congenital myasthenic syndromes. Ann N Y Acad Sci.
2012 Dec;1275(1):63-9.
Belaya K, Finlayson S, Cossins J, Liu WW, Maxwell S, Palace J, Beeson D. Identification of
DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
Ann N Y Acad Sci. 2012 Dec;1275(1):29-35.
Vincent A, Waters P, Leite MI, Jacobson L, Koneczny I, Cossins J, Beeson D. Antibodies
identified by cell-based assays in myasthenia gravis and associated diseases. Ann N Y
Acad Sci. 2012 Dec;1274(1):92-8.
Belaya K, Finlayson S, Slater CR, Cossins J, Liu WW, Maxwell S, McGowan SJ, Maslau S,
Twigg SR, Walls TJ, Pascual Pascual SI, Palace J, Beeson D.Mutations in DPAGT1
cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am J Hum
Genet. 2012; 91:193-201.
Webster R, Maxwell S, Spearman H, Tai K, Beckstein O, Sansom M, Beeson D. A novel
congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel
conductance. Brain. 2012; 135:1070-1080.
Chaouch A, Beeson D, Hantaï D, Lochmüller H. 186th ENMC International Workshop:
Congenital myasthenic syndromes 24-26 June 2011, Naarden, The Netherlands.
Neuromuscul Disord. 2012; 22:566-576
Maselli RA, Fernandez JM, Arredondo J, Navarro C, Ngo M, Beeson D, Cagney O, Williams
DC, Wollmann RL, Yarov-Yarovoy V, Ferns MJ. LG2 agrin mutation causing severe
congenital myasthenic syndrome mimics functional characteristics of non-neural (z-)
agrin. Hum Genet. 2012; 131:1123-1135.
Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S,
Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S,
Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B,
Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni
F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A,
Lochmüller H. Congenital myasthenic syndrome with tubular aggregates caused by
GFPT1 mutations. J Neurol. 2012; 259:838-850.
Palace J, Lashley D, Bailey S, Jayawant S, Carr A, McConville J, Robb S, Beeson D.
Clinical features in a series of fast channel congenital myasthenia syndrome.
Neuromuscul Disord. 2011; 22:112-117.
Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH,
Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ,
Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H,
Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit
T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby
K, Straub V, Beeson D, Abicht A, Lochmüller H. Hexosamine biosynthetic pathway
mutations cause neuromuscular transmission defect. Am J Hum Genet. 2011;88:162172
Robb SA, Sewry CA, Dowling JJ, Feng L, Cullup T, Lillis S, Abbs S, Lees MM, Laporte J,
Manzur AY, Knight RK, Mills KR, Pike MG, Kress W, Beeson D, Jungbluth H, Pitt MC,
Muntoni F. Impaired neuromuscular transmission and response to acetylcholinesterase
inhibitors in centronuclear myopathies. Neuromuscul Disord. 2011; 21:379-386.
Salih MA, Oystreck DT, Al-Faky YH, Kabiraj M, Omer MI, Subahi EM, Beeson D, AbuAmero KK, Bosley TM. Congenital myasthenic syndrome due to homozygous CHRNE
mutations: report of patients in Arabia. J Neuroophthalmol. 2011;31:42-47
Yang L, Maxwell S, Leite MI, Waters P, Clover L, Fan X, Zhang D, Yang C, Beeson D,
Vincent A. Non-radioactive serological diagnosis of myasthenia gravis and clinical
features of patients from Tianjin, China. J Neurol Sci. 2011;301:71-76.
Munot P, Lashley D, Jungbluth H, Feng L, Pitt M, Robb SA, Palace J, Jayawant S, Kennet
R, Beeson D, Cullup T, Abbs S, Laing N, Sewry C, Muntoni F Congenital fibre type
disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking
congenital myasthenia. Neuromuscul Disord. 2010; 20:796-800.
Nicholl DJ, Hilton-Jones D, Palace J, Richmond S, Finlayson S, Winer J, Weir A, Maddison
P, Fletcher N, Sussman J, Silver N, Nixon J, Kullmann D, Embleton N, Beeson D,
Farrugia ME, Hill M, McDermott C, Llewelyn G, Leonard J, Morris M. Open letter to prime
minister David Cameron and health secretary Andrew Lansley. BMJ. 2010; 341:c6466.
doi: 10.1136/bmj.c6466.
Munot P, Lashley D, Jungbluth H, Feng L, Pitt M, Robb SA, Palace J, Jayawant S, Kennet
R, Beeson D, Cullup T, Abbs S, Laing N, Sewry C, Muntoni F. Congenital fibre type
disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking
congenital myasthenia. Neuromuscul Disord. 2010; 20:796-800.
Clark RH, McTaggart JS, Webster R, Mannikko R, Iberl M, Sim XL, Rorsman P, Glitsch M,
Beeson D, Ashcroft FM. Muscle dysfunction caused by a KATP channel mutation in
neonatal diabetes is neuronal in origin. Science. 2010;329:458-461.
Jephson CG, Mills NA, Pitt MC, Beeson D, Aloysius A, Muntoni F, Robb SA, Bailey
CM.Congenital stridor with feeding difficulty as a presenting symptom of Dok7 congenital
myasthenic syndrome. Int J Pediatr Otorhinolaryngol. 2010;74:991-994.
Spillane J, Beeson D, Kullmann DM Myasthenia and related disorders of the neuromuscular
junction. J Neurol Neurosurg Psychiatry. 2010; 81:850-857.
Irani SR, Bera K, Waters P, Zuliani L, Maxwell S, Zandi MS, Friese MA, Galea I, Kullmann
DM, Beeson D, Lang B, Bien CG, Vincent A N-methyl-D-aspartate antibody encephalitis:
temporal progression of clinical and paraclinical observations in a predominantly nonparaneoplastic disorder of both sexes. Brain. 2010;133:1655-1667
Lashley D, Palace J, Jayawant S, Robb S, Beeson D. Ephedrine treatment in congenital
myasthenic syndrome due to mutations in DOK7. Neurology 2010;74:1517-23.
Gattenlöhner S, Jörissen H, Huhn M, Vincent A, Beeson D, Tzartos S, Mamalaki A,
Etschmann B, Muller-Hermelink HK, Koscielniak E, Barth S, Marx A. A human
recombinant autoantibody-based immunotoxin specific for the fetal acetylcholine receptor
inhibits rhabdomyosarcoma growth in vitro and in a murine transplantation model. J
Biomed Biotechnol. 2010;2010:187621.
Burke G, Allen D, Arunachalam R, Beeson D, Hammans S.A treatable muscle disease.
Pract Neurol. 2009;9:233-236.
Faber CG, Molenaar PC, Vles JS, Bonifati DM, Verschuuren JJ, van Doorn PA, Kuks JB,
Wokke JH, Beeson D, De Baets M. AChR deficiency due to epsilon-subunit mutations:
two common mutations in the Netherlands. J Neurol. 2009; 256:1719-23.
Vogt J, Morgan V, Marton T, Maxwell S, Harrison B, Beeson D, Maher. ER.Germline
mutation in DOK7 associated with Foetal Akinesia Deformation Sequence. J Med Genet.
2009; 46:338-40.
Ten key publications throughout your career
Cossins J, Belaya K, Hicks D, Salih M, Finlayson S,Carboni N, Liu WW, Maxwell S,
Zoltowska K, Golara Farsani G, Laval S, Seidhamed M, "WGS500 consortium", Donnelly
P, Bentley D, McGowan S, Müller J, Palace J, Lochmüller H, Beeson D. Congenital
myasthenic syndromes due to mutations in ALG2 and ALG14. Brain 2013 Mar;136(Pt
3):944-56.
Belaya K, Finlayson S, Slater CR, Cossins J, Liu WW, Maxwell S, McGowan SJ, Maslau S,
Twigg SR, Walls TJ, Pascual Pascual SI, Palace J, Beeson D. Mutations in DPAGT1
cause a limb-girdle congenital myasthenic syndrome with tubular aggregates. Am J Hum
Genet. 2012 ;91:193-201.
Webster R, Maxwell S, Spearman H, Tai K, Beckstein O, Sansom M, Beeson D. A novel
congenital myasthenic syndrome due to decreased acetylcholine receptor ion-channel
conductance. Brain. 2012 ;135:1070-80.
Clark RH, McTaggart JS, Webster R, Mannikko R, Iberl M, Sim XL, Rorsman P, Glitsch M,
Beeson D, Ashcroft FM. Muscle dysfunction caused by a KATP channel mutation in
neonatal diabetes is neuronal in origin. Science. 2010;329:458-61.
Giraud M, Taubert R, Vandiedonck C, Ke X, Levi-Strauss M, Pagani F, Baralle FE, Eymard
B, Tranchant C, Gajdos P, Vincent A, Willcox N, Beeson D, Kyewski B, Garchon HJ. An
IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in
thymus. Nature. 2007; 448:934-7
Palace J, Lashley D, Newsom-Davis J, Cossins J, Maxwell S, Kennett R, Jayawant S,
Yamanashi Y, Beeson D. Clinical features of the DOK7 neuromuscular junction
synaptopathy. Brain 2007; 130:1507-1515
Beeson D, Higuchi O, Palace J, Cossins J, Spearman H, Maxwell S, Newsom-Davis J,
Burke G, Fawcett P, Motomura M, Muller J, Lochmuller H, Slater C, Vincent A, Yamanashi
Y. Dok-7 mutations underlie a neuromuscular junction synaptopathy. Science 2006;
313:1975-1978.
Abdelghany A, Wood M, Beeson D. Allele-specific gene silencing of a pathogenic mutant
muscle acetylcholine receptor subunit by RNA interference. Hum Mol Genet. 2003;
12:2637-2644.
Croxen R, Young C, Slater C, Haslam S, Brydson M, Vincent A and Beeson D. Endplate and -subunit mRNA levels in AChR deficiency syndrome due to -subunit null
mutations. Brain 2001; 124:1362-1372.
Beeson D, Morris A, Vincent A and Newsom-Davis J.
The human muscle
acetylcholinereceptor  subunit exists as two isoforms: A novel exon. EMBO J
1990;9:2101-2106
Current Research Support
Medical Research Council Programme Grant MR/M006824/1
Disease mechanisms and therapies for inherited disorders of the neuromuscular synapse
£1,500,000 1.10.14 - 30.09.19
Myasthenia Gravis association/John Moulton Charitable Foundation Genes,
mechanisms and models of congenital myasthenic syndromes £80,000 1.10.13-30.9.14
John Moulton Charitable Foundation Defining defective acetylcholine receptor function for
definitive diagnosis and appropriate treatments of congenital myasthenic syndromes
£90,000 1.10.11 – 30.09.14
Muscular Dystrophy Campaign Prize Studentship Therapy to stabilise synaptic structure
for both genetic and autoimmune forms of myasthenia £95,000 1.10.2011-30.09.2014
Other Funding Source
Named applicant and member of the management committee for OXION: Ion Channels and
Disease Initiative strategic award by the Wellcome Trust ~ £5M 1.10.11 - 30.09.17
Based on the research output from the laboratory the National Specialist Commissioning
Service (NSC) of the NHS commissioned and provides funding for a National Service for the
treatment and genetic diagnosis of patients with congenital myasthenic syndromes based at
the John Radcliffe Hospital, in Oxford. ~ £90,000/year for the laboratory