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Peter Schofield
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Prof
Peter Schofield, BScAgr(Hons), PhD, DSc |
Current Appointments
Executive Director and Chief Executive
Officer, POWMRI
Senior Principal Research Fellow (Honorary), Garvan
Institute of Medical Research
Professor (Conjoint), School of Medicine, University of New
South Wales
Professor (Adjunct), Department of Biotechnology, Faculty of
Science, University of New South Wales
Foundation Director, Research Australia Ltd
Personal
History
Prizes and Awards:
1982 - The University Medal, Faculty of Agriculture,
University of Sydney
1990 - A.W. Campbell Award, Australian Neuroscience Society
1991 - Elsie Waltham Thompson Award, National Heart Foundation
1995 - Boehringer-Mannheim Medal, Australian Society for
Biochemistry and Molecular Biology Inc.
1997 - Gottschalk Medal, Australian Academy of Science
Career:
1985-1987 Genentech Inc, South San
Francisco, California, USA
1987-1998 ZMBH (Centre for Molecular
Biology), University of Heidelberg
1988-1991 Pacific Biotechnology
Limited, Rushcutters Bay, Sydney
1991-2004 Garvan Institute of Medical
Research (1991-1993 NHMRC Senior Research Fellow; 1994-1998
Principal
Research Fellow; 1999-2004 Senior Principal Research Fellow)
1998-2004 Founder and Managing
Director, PsyGene Pty Ltd
1999-2004 Director, Neurobiology
Research Program, Garvan Institute of Medical Research
1993-1995 University of New South
Wales Visiting Fellow
1996-2000 Associate Professor School
of Medicine & Dept of Biotechnology, University of New South
Wales
2000-present Professor, School of Medicine & Dept of
Biotechnology, University of New South Wales
Current Projects
Genetics of Mental Illness
Genetics of Dementia
Synaptic Neurotransmission
Research Staff
NHMRC RD Wright Fellow
Dr
John Kwok
Senior Research Officers
Dr
Ian Blair
Ms
Kerrie Pierce
Research Assistants
Ms
Anna Scimone
Ms
Marianne Hallupp
Ms
Elizabeth Todd
Research Students
PhD Students
Nathan Absalom
Agnes Lutty
Carlotta Duncan
Honours Student
Melissa Balkin
Key Publications
Genetics of Mental Illness
Adams LJ,
Mitchell PB, Fielder SL, Rosso A, Donald JA and Schofield
PR (1998) A susceptibility locus for bipolar affective
disorder on chromosome 4q35. Amer J Human Genet
62: 1084-1091
Badenhop RF,
Moses MJ, Scimone A, Mitchell PB, Ewen KR, Rosso A, Donald JA
Adams LJ and Schofield PR (2001) A genome screen of a
large bipolar affective disorder pedigree supports prior
evidence for a susceptibility locus on chromosome 13q.
Molecular Psychiatry 6: 396-403
Badenhop RF, Moses
MJ, Scimone A, Mitchell PB, Ewen KR, Rosso A, Donald JA Adams LJ
and Schofield PR (2002) A genome screen of 13 bipolar
affective disorder pedigrees provides evidence for
susceptibility loci on chromosome 3 as well as chromosomes 9, 13
and 19. Molecular Psychiatry 7: 594-603
Blair IP, Adams LJ,
Badenhop RF, Moses MJ, Scimone A, Morris JA, Ma L, Austin CP,
Donald JA, Mitchell PB and Schofield PR (2002) A
transcript map encompassing a susceptibility locus for bipolar
affective disorder on chromosome 4q35. Molecular
Psychiatry 7: 867-873
Badenhop RF, Moses
MJ, Scimone A, Adams LJ, Kwok JBJ, Jones A-M, Davison G, Evans
MR, Kirkby KC, Hewitt JE,
Donald JA,
Mitchell PB and Schofield PR (2003) Genetic refinement of
a possible disease haplotype and physical
mapping of a 2.3Mb
region defining a bipolar affective disorder susceptibility
locus on chromosome 4q35. American
Journal of
Medical Genetics (Neuropsychiatric Genetics) 117B:
23-32
Segurado R,
Detera-Wadleigh SD, Levinson DF, Lewis CM, Gill M, Nurnberger JI,
Craddock N, DePaulo R, Baron M,
Gershon ES, Ekholm
J, Cichon S, Turecki G, Claes S, Kelsoe JR, Schofield PR,
et al (2003) Genome Scan Meta-Analysis of Schizophrenia and
Bipolar Disorder, Part III: Bipolar Disorder.
American Journal of Human Genetics 73: 49-62
Genetics of
Dementia
Hutton M, Lendon
CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown
S, Chakraverty S, Isaacs A, Grover A, Hackett J, Adamson J,
Lincoln S, Dickson D, Davies P, Petersen RC, Stevens M, de
Graaff E, Wauters E, van Baren J, Hillebrand M, Joosse M, Kwon
JM, Nowotny P, Che LK, Norton J, Morris JC, Reed LA,
Trojanowski J, Basun H, Lannfelt L, Neystat M, Fahn S, Dark F,
Tannenberg T, Dodd PR, Hayward N, Kwok JBJ, Schofield PR,
Andreadis A, Snowden J, Craufurd D, Neary D, Owen F, Oostra
BA, Hardy J, Goate A, van Swieten J, Mann D, Lynch T and
Heutink P (1998) Coding and 5'-splice-site mutations in
tau with inherited dementia FTDP-17. Nature
393: 702-705
Kwok JBJ, Li
Q-X, Hallupp M, Whyte S, Beyreuther K, Masters CM and
Schofield PR (2000) Novel Leu723Pro APP mutation
increases A_ 42(43) peptide levels and induces apoptosis.
Annals of Neurology 47: 249-253
Stanford PM,
Halliday GM, Brooks WS, Kwok JBJ, Storey CE, Creasey H, Morris
JGL, Fulham M and Schofield PR (2000) Progressive
supranuclear palsy pathology caused by a novel silent mutation
S305S, in exon 10 of the tau gene: Expansion of the disease
phenotype caused by tau mutations. Brain 123:
880-893
Smith MJ, Kwok
JBJ, McLean CA, Kril JJ, Broe GA, Nicholson GA, Cappai R,
Hallupp M, Cotton RGH, Masters CL, Schofield PR and
Brooks WS (2001) Variable phenotype of Alzheimer's disease
with spastic paraparesis. Annals of Neurology
49: 125-129
Stanford PM,
Shepherd CE, Halliday GM, Brooks WS, Schofield PW, Brodaty H,
Martins RN, Kwok JBJ and Schofield PR (2003) An
increase in three repeat tau causes frontotemporal dementia.
Brain 126: 814-826 (Included cover illustration)
Kwok JBJ,
Hallupp M, Halliday GM, Brooks WS, Dolios G, Murayama O,
Badenhop RF, Wang R, Gandy SE, Vickers J, Takashima A, and
Schofield PR (2003) Presenilin-1 mutation (Leu271Val)
results in altered exon 8 splicing and Alzheimer's disease
with non-cored plaques and no neuritic dystrophy.
Journal of Biological Chemistry 278: 6748-6754
Kwok JBJ,
Hallupp M, Halliday GM, Brooks WS, Dolios G, Murayama O,
Badenhop RF, Wang R, Gandy SE, Vickers J, Takashima A, and
Schofield PR (2003) Presenilin-1 mutation (Leu271Val)
results in altered exon 8 splicing and Alzheimer's disease
with non-cored plaques and no neuritic dystrophy.
Journal of Biological Chemistry 278: 6748-6754
Brooks WS, Kwok
JBJ, Kril JJ, Broe GA, Blumbergs PC, Tannenberg AE, Lamont PJ,
Hedges P, Schofield PR (2003) Alzheimer's disease with
spastic paraparesis and "cotton wool" plaques: two pedigrees
with PS-1 exon 9 mutations. Brain 126: 783-791
Kwok JBJ, Teber
E, Loy C, Hallupp M, Nicholson G, Mellick GD, Buchanan DD,
Silburn PA and Schofield PR (2004) Tau promoter
haplotypes regulate transcription and are associated with
Parkinson's disease. Annals of Neurology 55:
329-334
Synaptic
Neurotransmission
Lynch JW, Han N-LR,
Haddrill J, Pierce KD and Schofield PR (2001) The
surface accessibility of the glycine receptor M2-M3 loop is
increased in the channel open state. Journal of
Neuroscience 21: 2589-2599
Rees MI, Lewis
TM, Kwok JBJ, Mortier G, Govaert P, Snell RG, Schofield PR
and Owen MJ (2002) Hyperekplexia associated with compound
heterozygote mutations in the b-subunit of the human
inhibitory glycine receptor (GLRB). Human
Molecular Genetics 11:853-860
Kwok JBJ, Kapoor
R, Gotoda T, Iizuka Y, Yamada N, Kato N, Isaacs K, Kushwaha V,
Church WB, Schofield PR and Kapoor V. (2002) A missense
mutation in kynurenine aminotransferase-1 in spontaneously
hypertensive rats. Journal of Biological Chemistry
277: 35779-35782
Lewis, T.M.,
Schofield, P.R., and McClellan, A.M.L. (2003) Kinetic
determinants of agonist potency at the recombinant human
glycine receptor. Journal of Physiology 549:
361-374
Graham, B.A.,
Schofield, P.R., Sah, P. and Callister, R.J. (2003)
Altered inhibitory synaptic transmission in superficial dorsal
horn neurones in Spastic and Oscillator mice.
Journal of Physiology 551: 905-916.
Absalom NL,
Lewis TM, Kaplan W, Pierce KD and Schofield PR (2003)
Role of charged residues in coupling ligand binding and
channel activation in the extracellular domain of the glycine
receptor. Journal of Biological Chemistry 278:
50151-50157
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