Clinical Genetics and Genomics at a Glance: 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