Emery and Rimoin's Principles and Practice of Medical Genetics

Dr. Reed Pyeritz is a medical genetics doctor in Philadelphia, Pennsylvania and is affiliated with Hospitals of the University of Pennsylvania-Penn Presbyterian. Dr. Pyeritz focuses his research in two areas - Mendelian disorders of the cardiovascular system (especially those involving defects of connective tissue) and ethical, legal and social implications of human genetics. He is continuing his studies, begun over 20 years ago, of Marfan syndrome and related conditions - diseases in which the aorta and occasionally major arterial branches gradually enlarge and dissect, leading to early demise if untreated. Current efforts include a multicenter trial of angiotensin receptor blockade in Marfan syndrome, the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosing and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT). Dr. Pyeritz directs Penn CIGHT (Center for the Integration of Genetic Healthcare Technologies). Supported by the ELSI Branch of the National Human Genome Research Institute, Penn CIGHT conducts research in the broad area of 'uncertainty' as related to the introduction of evolving approaches to assaying a patient's genotype. Bruce R. Korf is the director of the Heflin Center for Human Genetics and chairman of the Department of Genetics at the University of Alabama at Birmingham. In April 2009, he began a two-year term as president of the American College of Medical Genetics (ACMG). Korf received his M.D. from Cornell University Medical College and his Ph.D. in genetics and cell biology from Rockefeller University. He completed a residency in pediatrics, pediatric neurology, and genetics at Children's Hospital, Boston. Prior to his appointment at the University of Alabama, he served as clinical director in the Division of Genetics at Children's Hospital from 1986 to 1999, and as the medical director of the Harvard-Partners Center for Genetics and Genomics from 1999 to 2002. He was associate professor of neurology at Harvard Medical School and directed postdoctoral training in medical and laboratory genetics at hospitals affiliated with Harvard. Korf's principal area of research is neurofibromatosis. Korf is the author of Human Genetics: A Problem-Based Approach, an introductory graduate textbook used by medical students and genetic counselors. He is co-author, with Dorian Pritchard, of Medical Genetics at a Glance, and an editor of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics.

VOLUME I BASIC PRINCIPLES 1 History of Medical Genetics 2 Medicine in a Genetic Context 3 Nature and Frequency of Genetic Disease 4 Genome Structure and Gene Expression 5 Mutations in Human Disease: Nature and Consequences 6 Mendelian Inheritance 7 Segregation Analysis 8 Analysis of Genetic Linkage 9 Chromosomal Basis of Inheritance 10 Morbid Anatomy of the Human Genome 11 Mitochondrial Genes in Degenerative Diseases, Cancer and Aging 12 Genetic Analysis of Complex Traits 13 Population Genetics 14 Pathogenetics of Disease 15 Genetic Epidemiology 16 Human Developmental Genetics 17 Human Malformations 18 Twins and Twinning 19 The Molecular Biology of Cancer 20 The Biologic Basis of Aging: Implications for Medical Genetics 21 Pharmacogenetics and Pharmacogenomics GENERAL PRINCIPLES 22 Genetic Assessment and Pedigree Analysis 23 Genetic Risk Assessment for Common Disease 24 Risk Estimation in Genetic Counseling 25 Cytogenetic Analysis 26 Diagnostic Molecular Genetics 27 Heterozygote Testing and Carrier Screening 28 Prenatal Screening for Neural Tube Defects and Aneuploidy 29 Techniques for Prenatal Diagnosis 30 Neonatal Screening 31 Genetic Counseling 32 Gene Therapy Strategies for the Treatment of Neurodegenerative and Other Genetic Diseases 33 Ethical and Social Issues in Clinical Genetics 34 Legal Issues in Genetics in Medicine APPROACHES TO CLINICAL PROBLEMS 35 The Genetic Basis of Female Infertility 36 Male Infertility 37 Fetal Loss 38 A Clinical Approach to the Dysmorphic Child 39 Clinical Teratology 40 Abnormal Mental Development 41 Abnormal Body Size and Proportion 42 Susceptibility and Response to Infection 43Transplantation Genetics APPROACHES TO SPECIFIC DISORDERS CHROMOSOMAL DISORDERS 44 Down Syndrome and other Autosomal Trisomies 45 Sex Chromosome Abnormalities 46 Deletions and Other Structural Abnormalities of the Autosomes CARDIOVASCULAR DISORDERS 47 Congenital Heart Disease 48 Common Genetic Determinants of Coagulation and Fibronolysis 49 Cardiomyopathies 50 Familial Dysrhythmias and Conduction Disorders 51 Molecular Basis of Human Hypertension 52 Preeclampsia 53 Genetic Determinants of Atherosclerotic Heart Disease and Other Occlusive Arterial Disorders 54 Hereditary Disorders or the Lymphatic and Venous Systems VOLUME II RESPIRATORY DISORDERS 55 Cystic Fibrosis 56 Asthma 57 Hereditary Pulmonary Emphysema 58 Interstitial and Restrictive Pulmonary Disorders RENAL DISORDERS 59 Congenital Disorders or the Urinary Tract 60 Renal Cystic Diseases 61 Nephrotic Disorders 62 Renal Tubular Disorders 63 Cancer of the Kidney and Urogenital Tract GASTROINTESTINAL DISORDERS 64 Gastrointestinal Tract and Hepatobiliary Duct System 65 Inflammatory Bowel Disease 66 Bile Pigment Metabolism and its Disorders 67 Cancer of the Colon and Gastrointestinal Tract HEMATOLOGIC DISORDERS 68 Hemoglobinopathies and Thalassemias 69 Other Hereditary Red Blood Cell Disorders 70 Hemophilias and Other Disorders of Hemostasis 71 Rhesus and Other Fetomaternal Incompatibilities 72 Leukemias, Lymphomas and Other Related Disorders IMMUNOLOGIC DISORDERS 73 Autoimmunity: Genetics and Immunological Mechanisms 74 Systemic Lupus Erythematosus 75 Rheumatoid Disease and Other Inflammatory Arthropathies 76 Amyloidosis and Other Protein Deposition Diseases 77 Immunodeficiency Disorders 78 Complement Defects 79 Disorders of Leukocyte Function ENDOCRINOLOGIC DISORDERS 80 Genetic Disorders of the Pituitary Gland 81 Thyroid Disorders 82 Parathyroid Disorders 83 Diabetes Mellitus 84 Genetic Disorders of the Adrenal Gland 85 Disorders of the Gonads, Genital Tract and Genitalia 86 Cancer of the Breast and Female Reproductive Tract METABOLIC DISORDERS 87 Disorders of the Body Mass 88 Amino Acid Metabolism 89 Disorders of Carbohydrate Metabolism 90 Purine and Pyrimidine Metabolism 91 Lipoprotein and Lipid Metabolism 92 Disorders of Fatty Acid Transport and Mitochondrial Oxidation 93 Organic Acidemias and Disorders of FattyAcid Oxidation 94 Vitamin D Metabolism or Action 95 Inherited Porphyrias 96 Copper Metabolism 97 Iron Metabolism and Related Disorders 98 Mucopolysaccharidoses 99 Oligosaccharridoses and Allied Disorders 100 Gangliosidoses and Related Lipid Storage Diseases 101 Peroxisomal Disorders VOLUME III MENTAL AND BEHAVIORAL DISORDERS 102 Genetics of Personality 103 Fragile X Syndrome and Other Causes of X-linked Mental Handicap 104 Dyslexia and Other Specific Learning Disorders 105 Attention Deficit Hyperactivity Disorder 106 Autism and Other Behavioral Disorders 107 Alzheimer Disease and Other Dementias 108 Schizophrenia 109 Major Mood Disorders 110 Addictive Disorders NEUROLOGIC DISORDERS 111 Clinical Genetics of Neural Tube Defects and other Congenital Central Nervous System Malformations 112 Genetic Disorders of Cerebral Cortical Development 113 The Epilepsies 114 Basal Ganglia Disorders 115 The Hereditary Ataxias 116 Hereditary Spastic Paraplegia 117 Autonomic and Sensory Disorders 118 The Phakomatoses 119 Multiple Sclerosis and Other Demyelinating Disorders 120 Cerebrovascular Disorders 121 Primary Tumors of the Nervous System NEUROMUSCULAR DISORDERS 122 Congenital Muscular Dystrophies 123 Duchenne and Other X-linked Muscular Dystrophies 124 Autosomally Inherited Muscular Dystrophies 125 Hereditary Motor and Sensory Neuropathies 126 Congenital (Structural) Myopathies 127 Spinal Muscular Atrophies 128 Nondystrophic Myotonias and Periodic Paralyses 129 Myotonic Dystrophy 130 Hereditary and Autoimmune Myasthenias 131 Motor Neurone Disease OPHTHALMOLOGIC DISORDERS 132 Color Vision Defects 133 Optic Atrophy and Congenital Blindness 134 Glaucoma 135 Defects of the Cornea 136 Anomalies of the Lens 137 Hereditary Retinal and Choroidal Degenerations 138 Strabismus 139 Retinoblastoma DEAFNESS 140 Hereditary hearing impairment CRANIOFACIAL DISORDERS 141 Craniosynostosis 142 Craniofacial Disorders DERMATOLOGIC DISORDERS 143 Abnormalities of Pigmentation 144 Ichthyosiform Dermatoses 145 Epidermolysis Bullosa 146 Ectodermal Dysplasias 147 Other Genetic Disorders of the Skin 148 Skin Cancer CONNECTIVE TISSUE DISORDERS 149 Marfan Syndrome and Other Disorders of Fibrillin 150 Ehlers-Danlos Syndrome 151 Heritable Diseases Affecting the Elastic Tissues: Cutis Laxa, Pseudoxanthoma Elasticum and Related Disorders SKELETAL DISORDERS 152 Chondrodysplasias 153 Disorders of Bone Density, Volume and Mineralization 154 Abnormalities of Bone Structure 155 The Dysostoses 156 Arthrogryposes (Multiple Congenital Contractures) 157 Common Skeletal Deformities 158 158 Hereditary Noninflammatory Arthropathies INDEX