Clinical Genetics and Genomics at a Glance

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.

Contributors

Foreword

               Preface

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

60           MND/ALS

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

87           PCKD

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

Glossary

Index