Title Genetics of common diseases future therapeutic and diagnostic possibilities / edited by Ian Day, Steve Humphries

Published New York : Garland Science, 2020

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Description 1 online resource Contents Contributors -- Abbreviations -- Preface -- 1 Perspectives in human linkage studies. /S. Povey -- Pairwise linkage analysis of Mendelian traits -- Finding the cause of a disease which shows clear Mendelian inheritance -- After a LOO score of +3, what next? -- Narrowing the search by searching for critical recombinants -- Linkage disequilibrium -- Linkage analysis in more complex situations -- Linkage in complex traits -- Why are we doing this? -- References -- 2 Twin research: nature versus nurture in common diseases. /K.O. Kyvik -- Introduction -- History -- Biology of twinning -- Demography -- Twin studies -- Assumptions -- T he concept of concordance rates -- Heritability -- Twin studies and common diseases -- Other types of twin studies -- Conclusion -- References -- 3 The molecular basis of genetic variation: mutation detection methodologies and limitations. /E. Spanakis and I.N.M. Day -- Introduction -- Current theories of mutation -- Parallel development of theory with methodology -- Methods of mutation detection -- Limitations of current methods for mutation detection -- Our approaches -- Conclusions -- References -- 4 Finding susceptibility genes for schizophrenia. /M.J. Owen and M.C. O'Donovan -- Introduction -- Molecular genetic approaches to schizophrenia -- Candidate gene association studies -- Conclusions -- References -- 5 Approaches to determining the genetic basis of noninsulin-dependent diabetes mellitus. /M. McCarthy -- Non-insulin-dependent diabetes mellitus (NIDDM) -- Overview of approaches to dissect NIDDM -- Choosing a candidate gene -- Exploring candidate genes -- Assessing genotype-phenotype correlations -- Understanding the biology of complex traits -- References -- 6 Population-scale genotype assays: APOE gene in Alzheimer's dementia and coronary risk. /I.N.M. Day, D. Palamand and E. Spanakis -- Introduction: availability of population-scale gene testing -- Background -- Some future possibilities -- References -- 7 Genetic tests for coronary artery disease risk: the fibrinogen and stromelysin genes as examples. / S.E. Humphries, H. Montgomery, S. Ye and A. Henney -- Introduction -- Molecular biology of variability -- Sequence polymorphism at the fibrinogen locus, and variability in plasma fibrinogen levels -- Fibrinogen and the acute phase response -- Acute phase stimulation of fibrinogen by exercise -- Genes determining development of atherosclerosis and plaque rupture -- Stromelysin genotype and progression of atherosclerosis -- Conclusion -- References -- 8 HLA genes and rheumatoid arthritis susceptibility. /W. Ollier -- Introduction -- Epidemiology of RA -- Defining the genetic basis of RA -- HLA associations with RA -- The shared epitope hypothesis -- Is HLA associated with RA severity or susceptibility? -- Is HLA-encoded RA susceptibility due to a single or multiple genetic factors? -- How much of the genetic contribution is due to HLA? -- References -- 9 Practical benefits from understanding the genetics of chronic diseases. /R.R. Williams, S.C. Hunt, P.N. Hopkins, L. Wu and S. Stephenson -- Introduction -- From genes to treatment and prevention -- Improved diagnosis -- More successful practical applications: MED PED FH, -- a practical approach to early diagnosis, treatment and prevention -- More public awareness and financial support are needed -- MED PED social issues: cost and confidentiality -- Predictions for the future -- References -- Appendix -- 10 Specific approaches to pulmonary emphysema and its therapy. /N.A. Kalsheker -- Genetics of pulmonary emphysema -- a1-Antitrypsin deficiency -- Structure of a1-antitrypsin -- cxrAntitrypsin gene structure and mRNA species -- Genetic mutations associated with disease -- Therapeutic trials with cxrantitrypsin -- Gene therapy -- Gene transfer techniques -- Results of administration -- Gene therapy and a1-antitrypsin deficiency -- Response to therapy -- Conclusions -- References -- 11 Gene therapy for neurological diseases: quo vadis? Achievements and expectations of, and challenges for, the brave new technology. /P.R. Lowenstein, J. Jaszai and M.G. Castro -- Introduction -- Challenges towards clinical implementation: the central questions and the development of a viable clinical strategy -- Gene therapy tools: their status circa June 1997 -- How to achieve cell type-specific expression -- Conclusions -- References -- Bibliography -- 12 Impact of genomics on the discovery and development of modern medicines. /D.S. Bailey and G.I. Johnston -- Introduction -- The traditional route to pharmaceutical discovery -- Supporting the discovery process through genomics -- Realizing new paradigms for drug discovery and development through genomics -- References -- 13 Oligonucleotides and their future potential as therapeutic agents. /K.R. Fox -- Introduction -- Triplex recognition motifs -- Current strategies -- Applications -- Outstanding problems -- References -- 14 Protein engineering of therapeutic antibodies: use of antibodies for immunosuppression and treatment of leukaemias. /M. Clark -- Introduction -- Choice and specificity of antibodies -- Immunogenicity -- Biological properties -- Clinical use -- References -- 15 Getting to know your genes privately. /P.G. Debenham -- Who knows about the genetics revolution? -- Commercial genetic diagnostics is already with us -- Medical genetic diagnostics: the perception of private tests -- CF carrier testing service: the component parts -- Guidelines for future commercial genetic tests available directly to the public -- What genetic diagnostics will be provided next? -- Presenting the private possibilities -- Genetics for diagnostics or for what? -- References -- Index Summary Many common diseases are partly attributable to the genes which an individual inherits. Early steps have now been made in developing ways to determine which genetic variations are important, with some recent successes. This is a collection of papers from the Fifth Annual Molecular Pathology Symposium on the 10 December 1996. They represent the contributions to that meeting made by a set of distinguished scientists and clinicians whose work pertains to the furtherment of our understanding of the genetic components of common diseases and potential future approaches Notes Ian N Day (Edited by) , Steve E Humphries (Edited by) Both of Dept of Medicine, University College London Medical School, The Rayne Institute, London, UK Subject Medical genetics -- Congresses SCIENCE / Life Sciences / General Medical genetics Genre/Form Conference papers and proceedings Form Electronic book Author Day, Ian N. M., editor. Humphries, Steve E., editor. ISBN 9781000102277 1000102270 9781003076810 1003076815 9781000144581 1000144585 9781000119442 1000119440

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