Clinical Genetics and Genomics at a Glance - (At a Glance) by Neeta Lakhani & Kunal Kulkarni & Julian Barwell & Pradeep Vasudevan & Huw Dorkins

About the Book

"Having trained in both the academic and clinical aspects of medicine in addition to the scientific aspects of genetics, the authors are aware of the significant gaps that exist in genetics teaching. This results in: a. Clinicians being devoid of a strong understanding of the fundamentals of genetics and its relevance and applicability to their day-to-day practice; b. Scientists lacking sound training in the clinical applicability of their work, resulting in a challenge in seeing use of genetics in the medical field. Current textbooks do not suitably fill this void, as they place too great an emphasis on either the medical or the scientific aspects of genetics; while a basic understanding of Southern blotting is of course of importance to both clinicians and academics, it has limited benefit when faced with a patient with Duchenne muscular dystrophy and the need to answer questions about the clinical management and implications for the patient and their family. Secondly, the truth is that most students and trainees find genetics a complex subject as it has historically been taught using uninspiring and dry texts. This does not need to be the case! Genetics is a fascinating and rapidly evolving field, with growing implications for clinicians in all specialities. With significant public and media interest in genetic screening ? for example through the recently highly publicised case of Angelia Jolie and BRCA screening, or through increasing numbers of firms offering ?genetic profiling? services directly to patients ? clinicians cannot afford to be ignorant to an often overlooked aspect of many of the conditions that they manage in their day-to-day practice. From the academic perspective, scientists need to be able to understand the clinical implications of their work, in order to have more effective conversations with those who translate their work into clinical practice. This requires a firm understanding of the presentation and management of the conditions that they investigate; yet there is no clear text that currently provides this knowledge. It is evident that there is a void, and to marry these two large aspects of genetics, we are proposing this book: a clear, systematic and clinically relevant text that seeks to make clinical genetics an approachable and applicable subject for both clinicians and scientists"--

Book Synopsis

Clinical Genetics and Genomics at a Glance

The market-leading at a Glance series is popular among healthcare students and newly qualified practitioners, for its concise and simple approach and excellent illustrations.

Each bite-sized chapter is covered in a double-page spread with clear, easy-to-follow diagrams, supported by succinct explanatory text.

Covering a wide range of topics, books in the at a Glance series are ideal as introductory texts for teaching, learning and revision, and are useful throughout university and beyond.

Everything you need to know about Clinical Genetics and Genomics ... at a Glance!

Comprehensive and accessible overview of genetics in clinical practice with a unique systems-based approach

Clinical Genetics and Genomics at a Glance combines the clinical and scientific facets of a complex subject in a way that is both accessible and succinct to facilitate the diagnosis, treatment, and management of common genetic conditions.

Using the popular "at a Glance" format, this book enables the reader to gain a solid understanding of the practical applications of clinical genetics in different systems. Covering a wide range of topics, this book is perfect for an introduction on the subject texts or for revision purposes and are useful throughout medical school and beyond.

Clinical Genetics and Genomics at a Glance uses a systemic approach following all the systems in the body:

• General topics such as inheritance, cytogenetic and molecular genetic techniques, how to read a genetic test report, and genetic counselling
• Chapters on key conditions with a genetic basis, organised by body systems, for example:
• Cardiology topics such as congenital heart disease, ischaemic heart disease, cardiomyopathies, arrhythmias, and sudden cardiac death
• Dermatology topics such as tuberous sclerosis, Gorlin syndrome, Darier disease, lamellar ichthyosis, mal de meleda, cutaneous porphyria, and epidermolysis bullosa
• Endocrinology topics such as adrenal gland conditions, androgen insensitivity syndrome, ambiguous sex syndromes, anorchism, Klinefelter syndrome, Turner syndrome, and diabetes mellitus

Clinical Genetics and Genomics at a Glance is a helpful learning aid that can be used at various stages of medical training to gain an understanding of the aspects of clinical genetics and the fundamentals behind the specialty. The text also functions as a useful on-ward reference tool for practitioners of all experience levels.

From the Back Cover

The market-leading at a Glance series is popular among healthcare students and newly qualified practitioners, for its concise and simple approach and excellent illustrations.

Each bite-sized chapter is covered in a double-page spread with clear, easy-to-follow diagrams, supported by succinct explanatory text.

Covering a wide range of topics, books in the at a Glance series are ideal as introductory texts for teaching, learning and revision, and are useful throughout university and beyond.

Everything you need to know about Clinical Genetics and Genomics ... at a Glance!

Comprehensive and accessible overview of genetics in clinical practice with a unique systems-based approach

Clinical Genetics and Genomics at a Glance combines the clinical and scientific facets of a complex subject in a way that is both accessible and succinct to facilitate the diagnosis, treatment, and management of common genetic conditions.

Using the popular "at a Glance" format, this book enables the reader to gain a solid understanding of the practical applications of clinical genetics in different systems. Covering a wide range of topics, this book is perfect for an introduction on the subject texts or for revision purposes and are useful throughout medical school and beyond.

Clinical Genetics and Genomics at a Glance uses a systemic approach following all the systems in the body:

• General topics such as inheritance, cytogenetic and molecular genetic techniques, how to read a genetic test report, and genetic counselling
• Chapters on key conditions with a genetic basis, organised by body systems, for example:
• Cardiology topics such as congenital heart disease, ischaemic heart disease, cardiomyopathies, arrhythmias, and sudden cardiac death
• Dermatology topics such as tuberous sclerosis, Gorlin syndrome, Darier disease, lamellar ichthyosis, mal de meleda, cutaneous porphyria, and epidermolysis bullosa
• Endocrinology topics such as adrenal gland conditions, androgen insensitivity syndrome, ambiguous sex syndromes, anorchism, Klinefelter syndrome, Turner syndrome, and diabetes mellitus

Clinical Genetics and Genomics at a Glance is a helpful learning aid that can be used at various stages of medical training to gain an understanding of the aspects of clinical genetics and the fundamentals behind the specialty. The text also functions as a useful on-ward reference tool for practitioners of all experience levels.

About the Author

Dr Neeta Lakhani, Specialty Registrar in Clinical Genetics, with a Paediatric background. University Hospitals of Leicester NHS Trust, Leicester, UK.

Mr Kunal Kulkarni, Consultant Trauma and Orthopaedic Surgeon (Hand & Wrist specialist). University Hospitals of Leicester NHS Trust, Leicester, UK.

Professor Julian Barwell, Consultant in Clinical Genetics and Honorary Professor in Genomic Medicine. University Hospitals of Leicester NHS Trust, Leicester, UK.

Professor Pradeep Vasudevan, Consultant in Clinical Genetics and Honorary Professor. University Hospitals of Leicester NHS Trust, Leicester, UK.

Dr Huw Dorkins, Fellow and Senior Tutor in Medicine at St Peter's College, University of Oxford, Oxford, UK. Editor-in-Chief, Journal of Medical Genetics.