John Wiley & Sons Clinical Genetics and Genomics at a Glance Cover Comprehensive and accessible overview of genetics in clinical practice with a unique systems-based a.. Product #: 978-1-119-24095-2 Regular price: $30.75 $30.75 Auf Lager

Clinical Genetics and Genomics at a Glance

Lakhani, Neeta / Kulkarni, Kunal / Barwell, Julian / Vasudevan, Pradeep / Dorkins, Huw

At a Glance


1. Auflage August 2023
180 Seiten, Softcover

ISBN: 978-1-119-24095-2
John Wiley & Sons

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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.




Part 1 Introduction

1 What is Clinical Genetics and Genomic medicine?

2 Inheritance

3 Cytogenetic & Molecular genetic techniques

4 How to read a genetic test report

5 Genetic Counselling

Part 2 Cardiology

6 Structure and Congenital Heart Disease

7 Ischamic Heart Disease

8 Cardiomyopthies

9 Arrhythmias and Sudden Cardiac Death

Part 3 Dermatology

10 Tuberous Sclerosis

11 Gorlin syndrome

12 Dariers Disease

13 Lamellar Icthyosis

14 Mal De Meleda

15 Cutaneous Porphyria

16 Epidermolysis Bullosa

17 Cowden syndrome and Cowden-like syndrome

18 Muir-Torre Syndrome

18 X-linked Icthyosis

20 Birt-Hogg-Dube

Part 4 Endocrinology

21 Disorders of sexual development and differentiation

22 Congenital adrenal hyperplasia

23 Androgen Insensitivity Syndrome

24 Klinefelters syndrome

25 Turners Syndrome

26 Diabetes Mellitus

27 Diabetes Insipidus

28 Fabry-Anderson

Part 5 Metabolic

29 Introduction to the genetics of metabolic disorders

30 Overview of disorders of amino acid metabolism

31 Overview of disorders of carbohydrate metabolism

32 Overview of disorders of lipid metabolism

33 Overview of peroxisomal disorders

34 Disorders of purine and pyrimidine metabolism

Part 6 Gastroenterology

35 IBD

36 Wilsons

37 Heamochromatosis

38 Coeliac Disease

39 Pancreatic cancer

Part 7 Haematology

40 Malignant Haematology

41 Non malignanat Haematology

Part 8 Immunology

42 Severe combined immunodeficiency

43 DNA repair defects

44 Congenital abnormalities affecting the development of the thymus

45 Common variable immunodeficiency

46 X-linked (and autosomal recessive) agammaglobulinaemia

47 Wiskott-Aldrich syndrome

48 Hyperimmunoglobulin M syndromes

49 Hyperimmunoglobulin E syndrome

50 Chronic mucocutaneous candidiasis

51 Genetic disorders associated with immune dysregulation and/or autoimmunity

52 Genetic disorders associated with familial haemophagocytic lymphohistiocytosis

53 Mendelian susceptibility to mycobacterial disease

54 Chronic granulomatous disease

55 Defects in leukocyte migration

56 Defects of Toll like receptors and their signalling pathways

57 Complement deficiencies

58 Autoinflammatory diseases and periodic fever syndromes

Part 9 Neurology

59 SMA


61 Fragile X

62 HD

63 Dementia

64 Parkinsons

65 Myotonic dystrophy

Part 10 Paediatrics and Obstetrics

66 Fetal anomaly screening

67 Prenatal diagnostic testing and Preimplantation Genetic Diagnosis

68 Edwards ' Syndrome

69 Patau syndrome

70 Williams syndrome

71 Di George syndrome

Part 11 Oncology

72 Introduction to Cancer

73 Neurofibromatosis

74 Urological Cancers

75 Peutz-Jegher Syndrome

76 Von Hippel-Lindau

77 Inherited Bowel (Lower GI) Cancers

78 Inherited upper GI cancers

79 Inherited Breast Cancer

80 Retinoblastoma

81 Multiple Endocrine Neoplasia

Part 12 Opthalmology

82 Congential and Childhood Cataracts

83 Colour blindness and Achromatopsia

84 Retinitis Pigmentosa

85 Primary Congential Glaucoma

86 Bardet-Biedl Syndrome

Part 13 Renal


88 Nephronophthisis

89 Medullary cystic kidney disease

90 Tuberous sclerosis

91 von Hippel-Lindau

92 Alport syndrome

93 Cystinosis

94 Cystinuria

Part 14 MSK

95 Marfans

96 EDS

97 Congenital Limb Deficiencies

98 DMD

99 Charcot-Marie-Tooth (CMT)

100 Ankylosing Spondylitis

101 Skeletal dysplasias


Dr Neeta Lakhani, Registrar in Clinical Genetics, University Hospitals of Leicester NHS Trust. Dr Lakhani is a Specialty Registrar in Clinical Genetics, with a Paediatric background. Following a BSc Medical Genetics (University of Leicester) and MSc Clinical Oncology (University of Nottingham), she returned to Leicester to read Medicine. Her interest has always been to encourage people to share her passion for genetics through education and teaching. She has authored chapters in previous textbooks, and regularly teaches to undergraduate and post-graduate audiences. She also has a PGCert in Leadership and Management from the NHS Leadership Academy, and a MSt in Genomic Medicine from the University of Cambridge.

Mr Kunal Kulkarni, Senior Clinical Hand Fellow, Pulvertaft Hand Centre, University Hospitals of Derby and Burton NHS Foundation Trust. Mr Kulkarni is a post-CCT Trauma and Orthopaedic Surgeon. He qualified from the University of Oxford and has since completed his postgraduate training across Oxford, London, and the East Midlands. Through his paediatric orthopaedic training, coupled with a sub-specialist interest in Hand and Wrist surgery, he has developed an interest in the role of genetics in musculoskeletal development and pathology. He has a keen interest in both, undergraduate and post-graduate teaching, and serving as active faculty on a number of university and national courses. He has authored two textbooks, with a further two in press, alongside a number of peer-reviewed publications. For the past 15 years he has also run a free educational website for medical students.

Professor Julian G Barwell, Consultant in Clinical Genetics and honorary professor in genomic medicine, University Hospitals of Leicester NHS Trust. Dr Julian Barwell is a consultant in clinical genetics, division 3 clinical lead for the East Midlands Clinical Research Network and an honorary professor in Genomic Medicine at the University Hospitals of Leicester. He has a particular interest in the development and implementation of new digital and genomic technologies into 21st century healthcare.

Professor Pradeep C Vasudevan, Consultant in Clinical Genetics and honorary professor, University of Leicester. He qualified from University of Kerala in 1995. He underwent training in Clinical genetics and Paediatrics at Oxford and Sheffield and joined as a consultant in Clinical Genetics at University Hospitals of Leicester in 2006. He is the Head of Clinical Genetics service at Leicester since 2010 and a honorary professor in department of Genetics at University of Leicester and was also awarded visiting Professorship at Hubei University of medicine, China.

Dr Huw R Dorkins, Consultant in Clinical Genetics, University Hospitals of Leicester. Huw R Dorkins is Fellow and Tutor in Medicine at St Peter's College, University of Oxford where he is also Senior Tutor. He is dually accredited in medical and molecular genetics, and a Fellow of the Royal College of Physicians of London and of the Royal College of Pathologists. He trained in Oxford and has held consultant appointments in London and Leicester. He has served as President of the Medical Genetics section of the Royal Society of Medicine. His interests are in neurogenetics, cancer genetics and medical education. He is Editor in Chief of the Journal of Medical Genetics.

K. Kulkarni, Junior Doctor, Oxford Deanery, UK