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Kim Summers
Adjunct Senior Research Fellow
BSc Hons, ANU
PhD, ANU
Dip Human Biol, University of Oxford
PG Dip Ed, University of Queensland
Kim Summers is an Adjunct Senior Research Fellow with the Office of Public
Policy and Ethics at the Institute for Molecular Bioscience. Kim is a
Senior Lecturer in the Faculty of Biological and Chemical Sciences at
The University of Queensland. She works on the Bright
Minds project which is working with teachers
and school students to enhance the understanding of the new biologies.
Her background is in human genetics research and genetics education.
Six years ago Kim
was appointed as Director of Genetics Education for the Queensland Clinical
Genetics Service. In this role, she was responsible for developing resources
to assist people to understand the implications of new developments in
genetics on their health care. She gave talks and lectures as well as
producing pamphlets and booklets suitable for a wide range of audiences
from the lay public to health and other professionals. She left this position
to take up her present position with The University of Queensland.
Research
Interests
Kim began her research
career looking at biochemical pathways responsible for eye pigmentation
in fly species. She then became interested in biochemical and subsequently
molecular approaches to human genetic disease and has worked on a wide
range of genetic conditions, including Prader-Willi syndrome, Miller-Dieker
syndrome, Fragile X linked mental retardation, Duchenne muscular dystrophy,
haeomglobinopathies and haemochromatosis. For several years she has collaborated
with the Department of Medicine of The University of Queensland, studying
genetic conditions which affect the cardiovascular system including Marfan
syndrome. Recently her interest has been in common conditions which do
not usually follow Mendelian patterns of inheritance such as hypertension,
abdominal aortic aneurysm and cardiac hypertrophy.
Contact
Details
K.Summers@uq.edu.au
Publications
1. HOWELLS AJ, SUMMERS
KM, RYALL RL (1977) Developmental patterns of 3-hydroxykynurenine accumulation
in white and various eye colour mutants of Drosophila melanogaster. Biochem.
Genet. 15:1049-1059
2. SUMMERS KM, HOWELLS AJ (1978) Xanthommatin synthesis in wild type and
mutant strains of the Australian sheep blowfly, Lucilia cuprina. Biochem.
Genet. 16:1153-1163
3. SUMMERS KM, HOWELLS AJ (1980) Pteridines in wild type and eye colour
mutants of the Australian sheep blowfly, Lucilia cuprina. Insect Biochem.
10:151-155
4. PYLIOTIS NA, SUMMERS KM (1980) Ultrastructure of the pigment granules
in the eyes of the ommochrome deficient mutant yellow of the Australian
sheep blowfly, Lucilia cuprina. Eur. J. Cell Biol. 20:297-300
5. SUMMERS KM, HOWELLS AJ (1980) Functions of the white and topaz loci
of Lucilia cuprina in the production of the eye pigment xanthommatin.
Biochem. Genet. 18:643-653
6. SUMMERS KM, HOWELLS AJ, PYLIOTIS NA (1982) Biology of eye pigmentation
in insects. Adv. Insect Physiol. 16:119-166
7. SUMMERS KM, CRAIG IW (1982) The relationship between human monoamine
oxidase A and B. Biochem. Soc. Trans. 10:183-184
8. SUMMERS KM, BROWN GK, CRAIG IW, LITTLEWOOD J, PEATFIELD R, GLOVER V,
ROSE FC, SANDLER M (1982) Monoamine oxidase in headache : specific activity
and turnover number in platelets.
9. Clin. Chim. Acta 121:139-146
10. SUMMERS KM, HARRISON GA, HUME DA, PALMER CD (1983) Urinary hormone
levels: a population study of associations between steroid and catecholamine
excretion rates. Ann. Human Biol. 10:99-110
11. SUMMERS KM, ANDREW B, GILLESPIE C, WATT DC, CRAIG IW (1985) Platelet
monoamine oxidase : specific activity and turnover number in schizophrenics
and their families. Clin. Chim. Acta 152:289-296
12. HUME DA, SUMMERS KM, COHEN DR, ALLEN W (1985) The regulation of the
production of granulocyte-macrophage colony stimulating factor by macrophage-like
tumour cell lines. FEBS Letters 180:271-274
13. SUMMERS KM, HUME DA (1985) Expression of glandular kallikrein genes
in lymphoid and hemopoietic tissues and cell lines. Lymphokine Research
4:229-236
14. YENCHITSOMANUS P, SUMMERS KM (1985) _0- and _0-thalassemia in a Thai
family : unusually mild homozygous _0-thalassemia without _-globin gene
deletion. Human Genetics 69:375-377
15. YENCHITSOMANUS P, SUMMERS KM, BHATIA KK, CATTANI J, BOARD PG (1985)
Extremely high incidence of _-globin gene deletion in Madang and on Kar
Kar Island (Papua New Guinea). Am. J. Human Genet. 37:778-784
16. YENCHITSOMANUS P, SUMMERS KM, CHOCKKALINGAM C, BOARD PG (1986) Characterisation
of G6PD deficiency and thalassaemia in Papua New Guinea. PNG Med. J. 29:53-58
17. YENCHITSOMANUS P, SUMMERS KM, BHATIA KK, BOARD PG (1986) A single
_-globin gene deletion in Australian Aborigines. Aust. J. Exp. Biol. Med.
Sci. 64:297-306
18. YENCHITSOMANUS P, SUMMERS KM, BOARD PG, BHATIA KK, JONES GL, JOHNSON
K, NURSE GT (1986) Alpha-thalassemia in Papua New Guinea. Human Genetics
74:432-437
19. SUMMERS KM (1987) DNA polymorphisms in human population studies. Ann.
Human Biol. 14:203-217
20. SUMMERS KM, YENCHITSOMANUS P, CHAPPLE RM (1987) Genetic distance analysis
using DNA polymorphisms in the _-globin gene cluster. Ann. Human Biol.
14:393-404
21. VANTUINEN P, RICH DC, SUMMERS KM, LEDBETTER DH (1987) Regional mapping
panel for human chromosome 17 : application to neurofibromatosis type
I. Genomics 1:374-381
22. SUMMERS KM (1988) Restriction fragment length polymorphisms on the
X-chromosome in populations from Papua New Guinea, Thailand, Northwestern
Australia and China. Gene Geography 1:207-217
23. BROWN WT, GROSS A, CHAN C, JENKINS E, MANDEL JL, OBERLE I, ARVEILER
B, JUNIEN C, THIBODEAU S, HAGERMAN R, SUMMERS K, TURNER G, MULLIGAN L,
FORSTER-GIBSON C, HOLDEN J, WHITE BN, SCHWARTZ C, MURPHY P, BREG WR, CARPENTER
N, VEENEMA H, HOWARD-PEEBLES P, LALOUEL JM (1988) Multi-locus analysis
of the fragile X syndrome. Human Genetics 78:201-205
24. YENCHITSOMANUS P, SUMMERS KM, BOARD PG, FUCHAROEN S, WASI P (1988)
DNA polymorphisms of _N- and _E-globin genes in Thais. Birth Defects:
Orig. Art. Series 23(5A):99-106
25. RICH DC, WITKOWSKI CM, SUMMERS KM, VANTUINEN P, LEDBETTER DH (1988)
A highly polymorphic locus on chromosome 15. Nucl. Acids Res. 16:8740
26. VANTUINEN P, DOBYNS WB, RICH DC, SUMMERS KM, ROBINSON TJ, NAKAMURA
Y, LEDBETTER DH (1988) molecular detection of microscopic and submicroscopic
deletions associated with Miller-Dieker syndrome. Am. J. Human Genet.
43:587-596
27. SUMMERS KM (1989) Applications of molecular genetics to gastrointestinal
and liver diseases. I Technical approaches. J. Gastroenterol. Hepatol.
4:183-193
28. SUMMERS KM (1989) Applications of molecular genetics to gastrointestinal
and liver diseases. II Clinical relevance. J. Gastroenterol. Hepatol.
4:273-281
29. SUMMERS KM, TAM KS, HALLIDAY JW, POWELL LW (1989) HLA determinants
in an Australian population of hemochromatosis patients and their relatives.
Am. J. Human Genet. 45:41-48
30. LEDBETTER DH, LEDBETTER SA, VANTUINEN P, SUMMERS KM, ROBINSON TJ,
NAKAMURA Y, WOLFF R, WHITE R, BARKER D, WALLACE M, COLLINS F, DOBYNS WB
(1989) Molecular dissection of a contiguous gene syndrome: frequent submicroscopic
deletions, evolutionarily conserved sequences, and an HTF island in the
Miller-Dieker chromosome region. Proc. Nat. Acad. Sci. USA 86:5136-5140
31. POWELL LW, SUMMERS KM, BOARD P, AXELSON E, WEBB S, HALLIDAY JW (1990)
Expression of hemochromatosis in homozygous subjects : Implications for
early diagnosis and prevention. Gastroenterology 98:1625-1632
32. SUMMERS KM, HALLIDAY JW, POWELL LW (1990) Identification of homozygous
hemochromatosis subjects by measurement of hepatic iron index. Hepatology
12:20-25
33. CHEN LZ, EASTEAL S, BOARD PG, SUMMERS KM, BHATIA KK, KIRK RL (1990)
Albumin - vitamin D binding protein haplotypes in Asian-Pacific populations.
Human Genetics 85:89-97
34. SUMMERS KM (1990) Genetic heterogeneity in Wilson's disease. J. Gastroenterol.
Hepatol. 5:697-699
35. ZAPPONE E, DUGAST I, PAPADOPOULOS P, THERIAULT K, DAVID V, LEGALL
J-Y, SUMMERS K, POWELL L, DRYSDALE J (1991) Polymorphism in a ferritin
H gene from chromosome 6p. Human Genetics 86:557-561
36. SUMMERS KM, TAM KS, BARTLEY PB, DRYSDALE J, ZOGHBI HY, HALLIDAY JW,
POWELL LW (1991) Fine mapping of a ferritin heavy chain gene on chromosome
6 : relevance to hemochromatosis. Human Genetics 88:175-178
37. LUCOTTE G, HAZOUT S, SUMMERS KM (1991) The p49/TaqI Y-specific DNA
haplotypes in Australian aborigines. Gene Geography 5:131-136
38. SOEHARSO P, SUMMERS KM, COOKSLEY WGE (1992) The allotype distribution
of human T cell receptor _ and _ chain genes in Caucasians, Asians and
Australian Aborigines : relevance to chronic hepatitis B. Human Genetics
89:59-63
39. WEST MJ, SUMMERS KM, HUGGARD PR (1992) Polymorphisms of candidate
genes in essential hypertension. Clin. Exp. Pharmacol. Physiol. 19:315-318
40. GRUEN JR, GOEI V, SUMMERS KM, CAPOSSELA A, POWELL L, HALLIDAY JW,
ZOGHBI H, SHUKLA H, WEISSMAN SM (1992) Physical and genetic mapping of
the telomeric MHC region in man and relevance to the primary hemochromatosis
gene. Genomics 14:232-240
41. SUMMERS KM (1993) Genetic susceptibility to common diseases. Med.
J. Aust. 158:783-786
42. DEUGNIER Y, TURLIN B, SUMMERS KM, MOIRAND R, FLETCHER L, LOREAL O,
POWELL LW, BRISSOT P, HALLIDAY JW (1993) Differentiation between heterozygotes
and homozygotes in genetic hemochromatosis by means of a histological
hepatic iron index : a study of 192 cases. Hepatology 17:30-34
43. SUMMERS KM, WEST J, HUGGARD PR, WEST MJ (1993) Angiotensin converting
enzyme genotype and hypertension in a large Australian family. Clin. Exp.
Pharmacol. Physiol. 20:320-323
44. CRAWFORD DHG, SUMMERS KM, HALLIDAY JW, BOURKE MJ, POWELL LW (1993)
Concordance of iron storage in siblings with genetic hemochromatosis :
evidence for a predominantly genetic effect on iron storage. Hepatology
17:833-837.
45. WEST MJ, SUMMERS KM, BURSTOW DJ, WONG KK, HUGGARD PR (1994) Renin
and angiotensin-converting enzyme genotypes in patients with essential
hypertension and left ventricular hypertrophy. Clin. Exp. Pharmacol. Physiol.
21:207-210
46. WONG KK, SUMMERS KM, BURSTOW DJ, WEST MJ (1995) Angiotensin converting
enzyme and angiotensinogen genes in patterns of left ventricular hypertrophy
and in diastolic dysfunction. Clin. Exp. Pharmacol. Physiol. 22:438-440
47. SUMMERS KM, MURPHY RM, WEBB GC, PETERS GB, MORTON H, CASSADY AI, CAVANAGH
AC (1996) The human pregnancy factor/chaperonin 10 gene family. Biochem
Molec Med 58:52-58.
48. SUMMERS KM (1996) Relationship between genotype and phenotype in monogenic
diseases: relevance to polygenic diseases. Human Mutation 7:283-293.
49. ZHANG L, SUMMERS KM, WEST MJ (1996) Analysis of linkage of the ACE
locus with measures of cardiac hypertrophy in the spontaneously hypertensive
rat. Clin Exp Pharmacol Physiol 23:597-599.
50. HUGGARD PR, WEST MJ, SUMMERS KM (1996) a1-Antitrypsin deficiency alleles
and blood pressure in an Australian population. Clin Exp Pharmacol Physiol
23:600-601.
51. WONG KK, SUMMERS KM, BURSTOW DJ, WEST MJ (1996) Genetic variants of
proteins from the renin angiotensin system are associated with pressure
load cardiac hypertrophy. Clin Exp Pharmacol Physiol 23:587-590.
52. ZHANG L, SUMMERS KM, WEST MJ (1996) Angiotensin 1 converting enzyme
gene cosegregates with blood pressure and heart weight in F2 progeny derived
from spontaneously hypertensive and normotensive Wistar-Kyoto rats. Clin
Exp Hypertens 18:753-771.
53. ZHANG L, SUMMERS KM, WEST MJ (1996) Cosegregation of genes on chromosome
5 with heart weight and blood pressure in genetic hypertension. Clin Exp
Hypertens 18:1073-1087.
54. ZHANG L, XU D, WEST MJ, SUMMERS KM (1997) Association of brain natriuretic
peptide gene with blood pressure and heart weight in the rat. Clin Exp
Pharmacol Physiol 24:442-444.
55. HUGGARD PR, SUMMERS KM, WEST J, WEST MJ (1997) Association analysis
of six candidate genes in a sample of Australian hypertensive patients.
Clin Exp Pharmacol Physiol 24:454-456.
56. SUMMERS KM, FLETCHER BH, MACARANAS DD, SOMODEVILLA-TORRES MJ, MURPHY
RM, OSBORNE MJ, SPURR NK, CASSADY AI, CAVANAGH AC (1998) Mapping and characterization
of the eukaryotic early pregnancy factor/chaperonin 10 gene family. Somat
Cell Mol Genet 24:315-26.
57. WITHERS SJ, GOLE G, SUMMERS KM (1999) Autosomal dominant Peters anomaly
and cataract in a large Australian family. Clinical Genetics 55:240-7
58. MORTON H, MCKAY DA, MURPHY RM, SOMODEVILLA-TORRES MJ, SWANSON CE,
CASSADY AI, SUMMERS KM, CAVANAGH AC (2000) Production of a recombinant
form of early pregnancy factor that can prolong allogeneic skin graft
survival time in rats. Immunol Cell Biol 78:603-607.
59. FLETCHER BH, CASSADY AI, SUMMERS KM, CAVANAGH AC (2001) The murine
chaperonin 10 gene family contains an intronless, putative gene for early
pregnancy factor, Cpn10-rs1. Mammalian Genome 12:133-140.
60. NATAATMADJA M, WEST M, WEST J, SUMMERS K, WALKER P, NAGATA M, WATANABE
T (2003) Abnormal extracellular matrix protein transport associated with
increased apoptosis of vascular smooth muscle cells in Marfan syndrome
and bicuspid aortic valve thoracic aortic aneurysm. Circulation (In press,
April 2003).
61. WALKER PJ, FRYDMAN G, SUMMERS K, WEST M, XU D, LIGHTFOOT T, CODD C,
DIQUE T, NATAATMADJA M (2003) The value of screening in siblings of patients
with abdominal aortic aneurysm. Eur J Vasc Endovasc Surg (In press, May
2003)
BOOK CHAPTERS
1. CRAIG IW, POWELL JF, BROWN GK, SUMMERS KM (1982) Properties of human
monoamine oxidases. In Monoamine Oxidase : Basic and Clinical Frontiers
(eds Kamijo, Usdin, Nagatsu), Exerpta Medica, Amsterdam, pp 18-27
2. GLOVER V, LITTLEWOOD J, SANDLER M, PEATFIELD R, SUMMERS KM, CRAIG IW
(1982) Why is platelet MAO activity low in some headache patients? In
Advances in Migraine Research and Therapy (ed FC Rose), Raven Press, New
York, pp 127-132
3. POWELL LW, SUMMERS K, HALLIDAY J (1992) Haemochromatosis. In Hepatobilliary
Diseases (ed J Prieto) Springer-Verlag, Heidelberg pp.835-858
4. POWELL LW, SUMMERS KM, HALLIDAY JW (1992) Hemochromatosis. In Bokus
Gastroenterology (ed F Schaffner) WB Saunders Co, New York pp.2325-2339.
5. WEST MJ, SUMMERS KM, WONG KK, BURSTOW DJ (1997) Renin-angiotensin gene
polymorphisms and left ventricular hypertrophy: the case against an association.
In Hypertension and the Heart (ed Zanchetti et al) Plenum Press, New York
pp 117-122.
LETTERS
1. SUMMERS KM (1986) Genetic treatment of heritable disease. HGSA Newsletter
17:1
2. HALLIDAY JW, SUMMERS KM, POWELL LW (1989) Isolating and characterising
the haemochromatosis gene. Today's Life Sciences 1(4):54-56
3. SUMMERS KM, HALLIDAY JW, POWELL LW (1991) Is determination of the hepatic
iron index of diagnostic value in patients with thalassemia minor and
chronic alcoholic liver disease? Reply to Yebra et al. (Letter) Hepatology
14:959-960
4. SUMMERS KM (1993) The genetics of hypertension. Bull. Hum. Genet. Soc.
Australasia 6(2):12-13.
5. SUMMERS KM, PROPERT D (1995) Polymorphisms and mutation. Bull Hum Genet
Soc Australasia 8(3):29
6. SUMMERS K, MACMILLAN J (2000) The current status of genetic testing
in Australia. Today’s Life Sciences 12(2):24-28
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