Emery and Rimoin's Essential 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.

• History of Medical Genetics; Medicine in a Genetic Context; Nature and Frequency of Genetic Disease; Genomics and Proteomics; Genome Structure and Gene Expression; Epigenetics; Human Gene Mutation in Inherited Disease: Molecular Mechanisms and Clinical Consequences; Mendelian Inheritance Analysis of Genetic Linkage; Chromosomal Basis of Inheritance; Mitochondrial Genes in Degenerative Diseases, Cancer and Aging; Multifactoral Inheritance and Complex Traits; Population Genetics; Pathogenetics of Disease; Genetic Epidemiology; Human Developmental Genetics; Twins and Twinning; The Molecular Biology of Cancer; The Biologic Basis of Aging: Implications for Medical Genetics; Pharmacogenetics and Pharmacogenomics; Bioinformatics; Genetic Risk Assessment for Common Disease; Genetic Counseling and Clinical Risk Assessment; Cytogenetic Analysis; Diagnostic Molecular Genetics; Heterozygote Testing and Carrier Screening; Prenatal Screening for Neural Tube Defects and Aneuploidy Techniques for Prenatal Diagnosis; Neonatal Screening; Enzyme Replacement and Pharmacologic Chaperone Therapies for Lysomal Storage Disease; Gene Therapy; Ethical and Social Issues in Clinical Genetics; Legal Issues in Genetics in Medicine; The Genetic Basis of Female Infertility; Male Infertility; Fetal Loss; Genetic Disorders of Prematurity; A Clinical Approach to the Dysmorphic Child; Clinical Teratology; Abnormal Mental Development; Abnormal Body Size and Proportion Susceptibility and Response to Infection; Transplantation Genetics; Down Syndrome and other Autosomal Trisomies; Sex Chromosome Abnormalities; Deletions and Other Structural Abnormalities of the Autosomes; Congenital Heart Disease; Cardiomyopathies; Pulmonary Arterial Hypertension; Hereditary Hemorrhagic Telangiectasia; Cutaneous Hamartoneoplastic Disorders; Disorders of the Venous System; Capillary Malformation / Arteriovenous Malformation; Hereditary Disorders or the Lymphatic System; Familial Dysrhythmias and Conduction Disorders; Molecular Basis of Human Hypertension; Preclampsia; Common Genetic Determinants of Coagulation and Fibronolysis; Genetics of Atherosclerotic Cardiovascular Disease; Cystic Fibrosis; Asthma; Hereditary Pulmonary Emphysema; Interstitial and Restrictive Pulmonary Disorders; Congenital Anomalies of the Kidney and Urinary Tract (CAKUT); Cystic Diseases of the Kidney; Nephrotic Disorders; Renal Tubular Disorders; Cancer of the Kidney and Urogenital Tract; Gastrointestinal Tract and Hepatobiliary Duct System; Inflammatory Bowel Disease; Bile Pigment Metabolism and its Disorders; Cancer of the Colon and Gastrointestinal Tract; Hemoglobinopathies and Thalassemias; Other Hereditary Red Blood Cell Disorders; Hemophilias and Other Disorders of Hemostasis; Rhesus and Other Fetomaternal Incompatibilities; Leukemias, Lymphomas and Other Related Disorders; Autoimmunity: Genetics and Immunological Mechanisms; Systemic Lupus Erythematosus; Rheumatoid Disease and Other Inflammatory Arthropathies; Amyloidosis and Other Protein Deposition Diseases; Immunodeficiency Disorders; Complement Defects; Disorders of Leukocyte Function; Genetic Disorders of the Pituitary Gland; Thyroid Disorders; Parathyroid Disorders; Diabetes Mellitus; Genetic Disorders of the Adrenal Gland; Disorders of the Gonads, Genital Tract and Genitalia; Cancer of the Breast and Female Reproductive Tract; Disorders of the Body Mass; Genetic Lipodystrophies; Amino Acid Metabolism; Disorders of Carbohydrate Metabolism; Congenital disorders of protein glycosylation; Purine and Pyrimidine Metabolism; Lipoprotein and Lipid Metabolism; Organic Acidemias and Disorders of Fatty Acid Oxidation; Vitamin D Metabolism or ActionInherited Porphyrias; Copper Metabolism; Iron Metabolism and Related Disorders; Mucopolysaccharidoses; Disorders of DNA Repair and Metabolism; Oligosaccharidoses and Allied Disorders; Gangliosidoses and Related Lipid Storage Diseases; Peroxisomal Disorders; Genetics of Personality; Fragile X Syndrome and Other Causes of X-linked Mental Handicap; Dyslexia and Other Specific Learning Disorders; Attention Deficit Hyperactivity Disorder and Other Behavioral Disorders; Autism & Autism Spectrum Alzheimer Disease and Other Dementias; Shizophrenia and Affective Disorders; Addictive Disorders; Neural Tube Defects Genetic Disorders of Cerebral Cortical Development; The Epilepsies; Basal Ganglia Disorders; The Hereditary Ataxias; Sleep Disorders; Hereditary Spastic Paraplegia; Autonomic and Sensory Disorders; The Phakomatoses; Multiple Sclerosis and Other Demyelinating Disorders; Cerebrovascular Disorders; Primary Tumors of the Nervous System; The muscular dystrophies; Hereditary Motor and Sensory Neuropathies Congenital (Structural) Myopathies; Spinal Muscular Atrophies Nondystrophic Myotonias and Periodic Paralyses; Myotonic Dystrophy; Hereditary and Autoimmune Myasthenias; Motor Neurone Disease; Color Vision Defects; Optic Atrophy and Congenital Blindness; Glaucoma; Defects of the Cornea; Anomalies of the Lens; Hereditary Retinal and Choroidal Degenerations; Strabismus; Retinoblastoma; Disorders of the Hair; Hereditary hearing impairment; Clefting/Craniofacial Syndromes/DentalCraniosynostosis; Abnormalities of Pigmentation; Ichthyosiform Dermatoses; Epidermolysis Bullosa; Ectodermal Dysplasias; Psoriasis and Related Disorders; Skin Cancer; Marfan Syndrome and Other Disorders of Fibrillin; Ehlers-Danlos Syndrome; Heritable Diseases Affecting the Elastic Tissues: Cutis Laxa, Pseudoxanthoma Elasticum and Related Disorders; Osteogenesis Imperfecta (and other disorders of bone matrix); Disorders of Bone Density, Volume and Mineralization; Chondrodysplasias; Abnormalities of Bone Structure; The Dysostoses; Arthrogryposes (Multiple Congenital Contractures); Common Skeletal Deformities; Hereditary Noninflammatory Arthropathies; Pathways-Cohesinopathies; Ciliopathies

"…this is a masterful summary of essential information for the practice of clinical genetics...From nurse practitioners to supervising physicians, from early trainees to senior fellows, this is a must-have tool…Sadly, David Rimoin died after a brief illness after finalizing this amazing book. The medical genetics community will miss him greatly. There are no books that match the quality of this one."Rating: 5 Stars --Doody.com, March 7, 2014"The late Rimoin, Pyeritz, and Korf present 163 brief chapters that summarize chapters from Emery and Rimoin's Principles and Practice of Medical Genetics, for students, researchers, and practitioners…This edition has new chapters and includes common disorders not traditionally viewed as genetic." --Reference and Research Book News, August 2013