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Online publication date:
June 2019
Print publication year:
2008
Online ISBN:
9781868147137

Book description

The insights following the wake of the Human Genome project are radically influencing our understanding of the molecular basis of life, health and disease. The improved accuracy and precision of clinical diagnostics is also beginning to have an impact on therapeutics in a fundamental way. This book is suitable for undergraduate medical students, as part of their basic sciences training, but is also relevant to interested under and postgraduate science and engineering students. It serves as an introductory text for medical registrars in virtually all specialties, and is also of value to the General Practitioner wishing to keep up to date, especially in view of the growing, internet assisted public knowledge of the field. There is a special focus on the application of molecular medicine in Africa and in developing countries elsewhere.

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Contents


Page 1 of 3


  • Chapter 1 - Introduction
    pp 1-5
    • By Barry V Mendelow, MB BCh, PhD, FCPath (Haematology), MASSAf, FRSSAf, Emeritus Professor, University of the Witwatersrand and National Health Laboratory Service, was formerly the founding Professor and Head of the Division of Molecular Medicine and Haematology at the School of Pathology and Executive Director (Research) for the University of the Witwatersrand., Penny Keene, MB ChB, FFPath (Haematology), is a consultant in the Division of Molecular Medicine and Haematology, University of the Witwatersrand.
  • Chapter 4 - Molecular Cell Biology
    pp 37-49
    • By Natalie A Whalley, PhD, lectures in the Division of Molecular Medicine and Haematology, School of Pathology, University of the Witwatersrand., Sarah Walters, BSc (Hons), MSc (Med) (Genetic Counselling), worked as a genetic counsellor in the Division of Human Genetics, University of the Witwatersrand, from 2001 to 2007. In 2007 she became Honorary Treasurer of the Southern African Inherited Disorders Association and began setting up the Birth Defects and Disabilities Foundation (BDDF). She is currently coordinator of the BDDF and programme director of the Medical Genetics Education Programme for registered nurses., Kate Hammond, BSc (Hons), MT, PhD, is Professor of Molecular Medicine and Haematology, University of the Witwatersrand.
  • Chapter 5 - Genetic Variation
    pp 50-60
    • By Silke Arndt, MSc, graduated in 1997 from the University of Bielefeld (Germany). She is currently employed as medical scientist and lecturer in the Division of Human Genetics at the National Health Laboratory Service (NHLS) and University of the Witwatersrand., Anthony B Lane, PhD, heads the Serogenetics Laboratory in the Division of Human Genetics, National Health Laboratory Service and School of Pathology, University of the Witwatersrand.
  • Chapter 6 - Genes in Development
    pp 61-74
    • By Lillian A Ouko, obtained a PhD in Biomedical Sciences at the University of Pennsylvania and a BSc in Microbiology at the University of Massachusetts. Her most recent position was postdoctoral fellow in the Division of Human Genetics, National Health Laboratory Service and University of the Witwatersrand., Michèle Ramsay, PhD (Human Genetics), is currently Professor and Head of the Molecular Genetics Laboratory, Division of Human Genetics, National Health Laboratory Service and University of the Witwatersrand.
  • Chapter 7a - Nucleic Acid Methods
    pp 75-82
    • By Natela Rekhviashvili, obtained a PhD in Molecular Medicine in 2007 and has a special interest in HIV-1 diagnostics., Gwynneth Stevens, PhD, graduated from the University of the Witwatersrand in 1995. Initially employed as a medical scientist in the Wits Division of Human Genetics, 1995–1997, she moved on to the Division of Molecular Medicine and Haematology and was a senior medical scientist/laboratory manager in the Molecular Diagnostic Laboratory until December 2003. She joined the International AIDS Vaccine Initiative (IAVI) in January 2004 and is currently Director of IAVI Clinical Laboratory Programs in Africa and India.
  • Chapter 7c - Cellular Phenotyping and Flow Cytometry
    pp 95-101
    • By Lesley E Scott, PhD (Molecular Medicine), is a senior research and development scientist in the Division of Molecular Medicine and Haematology. She focuses on designing, developing and validating molecular diagnostic/monitoring assays designed to achieve affordable CD4 and viral load testing for HIV/AIDS. She is developing a novel statistical model for method comparison., Debbie K Glencross, MB BCh, MMed (Haematology) is associate Professor in the Division of Molecular Medicine and Haematology, University of the Witwatersrand. She has an extensive flow cytometry background including both leukaemia diagnostics and development of affordable PLG-CD4 laboratory monitoring of HIV/AIDS. She has received several awards including a NSTF (National Science and Technology), a Gold NPI (National Productivity Institute) and a JPMorgan Chase Health (USA) award.
  • Chapter 7d - Molecular Cytogenetics
    pp 102-112
    • By Pascale Willem, qualified as a medical doctor in Paris and specialised in human genetics (Grenobles- Marseille, France). Since 1990 she has run the Somatic Cell Genetics Unit in the Division of Molecular Medicine and Haematology, University of the Witwatersrand. She is involved in cancer research and diagnostics using both molecular genetics and cytogenetics techniques., Jacqueline Brown, MSc, has worked in the Somatic Cell Genetics Unit in the Division of Molecular Medicine and Haematology, University of the Witwatersrand, for more than five years. She is currently a medical scientist in the Division and is involved in diagnostics, research and development in the area of cancer molecular genetics.
  • Chapter 10 - Chromosome Disorders
    pp 133-142
    • By Sarah Walters, BSc (Hons), MSc (Med) (Genetic Counselling), worked as a genetic counsellor in the Division of Human Genetics, University of the Witwatersrand, from 2001 to 2007. In 2007 she became Honorary Treasurer of the Southern African Inherited Disorders Association and began setting up the Birth Defects and Disabilities Foundation (BDDF). She is currently coordinator of the BDDF and programme director of the Medical Genetics Education Programme for registered nurses., Nerine E Gregersen, MB BCh, MSc (Med), FCPaed (SA), Cert (Medical Genetics), DCH (SA), is a clinical geneticist and associate lecturer in the National Health Laboratory Service and Division of Human Genetics, School of Pathology, University of the Witwatersrand.
  • Chapter 12 - Unusual Molecular Processes that Impact on Disease
    pp 157-166
    • By Tabitha Haw, BSc (Hons) (Human Genetics), MSc (Med) (Genetic Counselling), is currently practising as a genetic counsellor and also lectures both medical students and genetic counselling students at the University of the Witwatersrand., Amanda Krause, MB BCh, PhD, is Associate Professor and Head of the Clinical Section in the Division of Human Genetics, National Health Laboratory Service and University of the Witwatersrand. She is primarily a clinician, whose research has been aimed at understanding the molecular basis of a number of genetic diseases in South Africa, which she sees as critical to providing patients with appropriate genetic tests in the local context. She has taught medical genetics at undergraduate and postgraduate level.
  • Chapter 15 - Molecular Basis for Phenotypic Variation
    pp 187-193
    • By Nerine E Gregersen, MB BCh, MSc (Med), FCPaed (SA), Cert (Medical Genetics), DCH (SA), is a clinical geneticist and associate lecturer in the National Health Laboratory Service and Division of Human Genetics, School of Pathology, University of the Witwatersrand., Amanda Krause, MB BCh, PhD, is Associate Professor and Head of the Clinical Section in the Division of Human Genetics, National Health Laboratory Service and University of the Witwatersrand. She is primarily a clinician, whose research has been aimed at understanding the molecular basis of a number of genetic diseases in South Africa, which she sees as critical to providing patients with appropriate genetic tests in the local context. She has taught medical genetics at undergraduate and postgraduate level.
  • Chapter 16 - Medical Genetics
    pp 194-202
    • By Nerine E Gregersen, MB BCh, MSc (Med), FCPaed (SA), Cert (Medical Genetics), DCH (SA), is a clinical geneticist and associate lecturer in the National Health Laboratory Service and Division of Human Genetics, School of Pathology, University of the Witwatersrand., Amanda Krause, MB BCh, PhD, is Associate Professor and Head of the Clinical Section in the Division of Human Genetics, National Health Laboratory Service and University of the Witwatersrand. She is primarily a clinician, whose research has been aimed at understanding the molecular basis of a number of genetic diseases in South Africa, which she sees as critical to providing patients with appropriate genetic tests in the local context. She has taught medical genetics at undergraduate and postgraduate level.

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