
Medical Genetics and Genomics
Oxford University Press
Published on 30. June 2025
Book
Paperback/Softback
384 pages
978-0-19-883472-4 (ISBN)
Description
The Fundamentals of Biomedical Science series has been written to reflect the challenges of practising biomedical science today. It draws together essential basic science with insights into laboratory practice to show how an understanding of the biology of disease is coupled to the analytical approaches that lead to diagnosis. Assuming only a minimum of prior knowledge, the series reviews the full range of disciplines to which a biomedical scientist may be exposed, from microbiology to cytopathology to transfusion science.
Medical Genetics and Genomics blends together theory and practice to provide a comprehensive overview of the subject of medical genetics and genomics, from basic to in-depth principles.
BLWritten in an accessible, engaging, and student-focused way that encourages proactive learning of basic to advanced concepts in medical genetics and genomics.
BLBalancing core biology and clinical relevance, this title offers up-to-date coverage of key areas and recent developments in medical genetics and genomics.
BLAlso available as an e-book with functionality, navigation features, and links that offer extra learning support.
Medical Genetics and Genomics blends together theory and practice to provide a comprehensive overview of the subject of medical genetics and genomics, from basic to in-depth principles.
BLWritten in an accessible, engaging, and student-focused way that encourages proactive learning of basic to advanced concepts in medical genetics and genomics.
BLBalancing core biology and clinical relevance, this title offers up-to-date coverage of key areas and recent developments in medical genetics and genomics.
BLAlso available as an e-book with functionality, navigation features, and links that offer extra learning support.
Reviews / Votes
A very good introduction to clinical genomics. * Antonio Marco, University of Essex * A very accessible textbook that does well to go rapidly from the basic to in-depth principles. * Kevin Smith, Abertay University * A useful primer that covers the main areas of genomics needed in order to engage with current clinical diagnostic practice. * Kenneth White, London Metropolitan University *More details
Series
Language
English
Place of publication
Oxford
United Kingdom
Target group
College/higher education
Illustrations
164 figures and tables
Dimensions
Height: 189 mm
Width: 247 mm
Thickness: 17 mm
Weight
742 gr
ISBN-13
978-0-19-883472-4 (9780198834724)
Copyright in bibliographic data and cover images is held by Nielsen Book Services Limited or by the publishers or by their respective licensors: all rights reserved.
Schweitzer Classification
Persons
Professor Emanuela Volpi graduated in Biological Sciences at the University of Rome 'La Sapienza' and holds a PhD in Evolutionary Biology. She worked as a post-doctoral research fellow at Cancer Research UK in London and was subsequently appointed as a staff scientist by the National Research Council in Italy. Before joining the University of Westminster in 2013 as a reader in Biomedical Science, she was head of the Molecular Cytogenetics and Microscopy Core of the Wellcome Trust Centre for Human Genetics in the Nuffield Department of Clinical Medicine at the University of Oxford. Her primary research and teaching expertise is in human and medical genetics. She is a member of the British Society for Genetic Medicine and the European Cytogeneticists Association and the Genetics Society, and a Fellow of the Royal Society of Biology and the Higher Education Academy.
Dr Lorna Tinworth graduated in Molecular Biology and Genetics at Queen Mary's, London, and undertook her PhD at King's College. It was in a post-doctoral role with the Cardiovascular Genetics research team at St George's Hospital, whilst teaching medical students, that Dr. Tinworth discovered her passion and talent for sharing bioscience knowledge. In 2010 she accepted a position at the University of Westminster where she continues to work as a senior lecturer in Molecular Biology. She holds an MA in Higher Education and is a Senior Fellow of Advance HE.
Dr Lorna Tinworth graduated in Molecular Biology and Genetics at Queen Mary's, London, and undertook her PhD at King's College. It was in a post-doctoral role with the Cardiovascular Genetics research team at St George's Hospital, whilst teaching medical students, that Dr. Tinworth discovered her passion and talent for sharing bioscience knowledge. In 2010 she accepted a position at the University of Westminster where she continues to work as a senior lecturer in Molecular Biology. She holds an MA in Higher Education and is a Senior Fellow of Advance HE.
Author
ProfessorProfessor, University of Westminster
Senior LecturerSenior Lecturer, University of Westminster
Content
1: Emanuela Volpi: Introduction 2: Lorna Tinworth: Human Nucleic Acids and Inheritance 3: Emanuela Volpi: Chromosomes in health and disease 4: Nirmal Vadgama, Shivani Shah, Hussein Sheikh Ali Mohamoud, and Jamal Nasir: Complex disorders and polygenic and multifactorial inheritance 5: Dianne Newbury: Genome sequencing 6: Drew Ellershaw: The genetic diagnostic laboratory 7: Heather Williams: The genetics and genomics of cancer 8: Vincenzo Torraca: Clinical microbiology in the genomic era 9: Angus Clarke and Nicola Taverner: Ethics in human genetics research and clinical genetics practice 10: Janine Lamb: Precision medicine