Over the last 50 years, developments in genetics have revolutionised our approach to understanding the nature and cause of much human disease. These advances include being able to diagnose and offer prevention through prenatal diagnosis for many serious single-gene disorders. Furthermore new treatments through gene and stem-cell therapy are being researched. It is also becoming possible to determine an individual’s response to drug treatments and susceptibility to various infections. Recent evidence suggests that particular pathogens may affect the clinical manifestations of certain single-gene disorders. In fact understanding the role of pathogens in both rare unifactorial disorders and in more common multifactorial conditions will be one of the major challenges facing medicine in the future.
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References
1.
GuttmacherAECollinsFS.Genomic medicine - a primer. New Engl J Med 2002; 347: 1512-20.
BonneGRBYaouBèroudC 108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15September2002, Naarden The Netherlands. Neuromusc Dis2003; 13:508-15.
4.
NorwoodFLMAJSutherland-SmithKeepNHThe structure of the N-terminal actin-binding domain of human dystrophin and how mutations in this domain may cause Duchenne or Becker muscular dystrophy. Structure2000; 8:481-91.
5.
EmeryAEHMuntoniF.Duchenne muscular dystrophy. 3rd ed. Oxford: Oxford University Press; 2003.
6.
Noguchi S,Tsukahara T, Fujita M cDNA microarray analysis of individual Duchenne muscular dystrophy patients. Hum Mol Genet2003; 12:595-600.
JuengstET. What next for human gene therapy? BMJ 2003; 326: 1410-11.
10.
OldJ.Hemoglobinopathies and thalassemias. In: Rimoin DL, Connor JM, Pyeritz RE editors. Emery &Rimoin’s Principles and Practice of Medical Genetics. 4th ed. Edinburgh, London &New York: Churchill Livingstone; 2002;1861-98.
11.
MoghadaszadehBRAlbrechtsenGuoLTCompensation for dystrophin-deficiency: ADAM-12 overexpression in skeletal muscle results in increased a 7 integrin, utrophin and associated glycoproteins. Hum Mol Biol2003; 12:2467-79.
12.
Barton-DavisERLCordierDIShoturma, Aminoglycoside antibiotics restore dystrophin function to skeletal muscles of mdx mice. J Clin Invest 1999; 104(4):375-81.
13.
PerinECHFDohmannBorojevicRTransendocardial, autologous bone marrow cell transplantation for severe, chronic ischaemic heart failure. Circulation2003; 107:2294-302.
14.
MeyerUA.Pharmacogenetics and adverse drug reactions. Lancet 2000; 356: 1667-71.
15.
StearnsVMDJohnsonRaeJM Active Tamoxifen metabolite plasma concentrations after coadministration of Tamoxifen and the selective serotonin reuptake inhibitor Paroxetine. J Nat Cancer Inst 2003; 95: 1758-64.
16.
DeanMMCarringtonCWinkler, Genetic restriction of HIV-I infection and progression to AIDS by a deletion of the CCR5 structural gene. Science 1996; 273: 1856-62; 274: 1069.
AustinMASHardingMcElroyC.Gene banks: a comparison of eight proposed international genetic databases. Community Genet2003; 6:37-45.
19.
BarbourV.UK Biobank: a project in search of a protocol. Lancet 2003; 361: 1734-8.
20.
Lee GH, Badorff C, Knowlton KU. Dissociation of sarcloglycans and the dystrophin carboxyl terminus from the sarcolemma in enteroviral cardiomyopathy. Circ Res2000; 87:489-95.
21.
Emery AEH. Muscular dystrophy - an evolving concept. In: Emery AEH, editor. The Muscular Dystrophies. Oxford: Oxford University Press;2001; 1-10.
22.
EmeryAEH.Muscular dystrophy into the new millennium. Neuromusc Dis2002; 12:343-49.
23.
SparrowJCKJNowakDurlingHJMuscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA I). Neuromusc Dis2003; 13:519-31.
24.
KalayogluMVPLibbyByrneGI.Chlamydia pneumoniae as an emerging risk factor in cardiovascular disease. JAMA2002; 288:2724-31.
25.
Bason C, Corrocher R, Lunardi C Interaction of antibodies against cytomegalovirus with heat-shock protein 60 in pathogenesis of atherosclerosis. Lancet 2003; 362: 1971-7.
26.
MeyersonM.Human genetic variation and disease. Lancet2003; 362:259-60.
