For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice.

With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world’s most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly.

In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to hematologic, immunologic, and endocrinologic disorders, with emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid, and gonad disorders among other conditions.

With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers.



Feature

Wholly revised and up-to-date, this volume fully addresses medical genetics and genomics as applied to hematologic, immunologic, and endocrinologic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods
Provides genetic researchers, students, and health professionals with new and updated chapters on the genetic basis of and treatment pathways for red blood cell disorders, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, diabetes mellitus, as well as thyroid, parathyroid, and gonad disorders among other conditions
Includes color images supporting identification, concept illustration, and method processing
Features contributions by leading international researchers and practitioners of medical genetics
A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field and articles to stay up-to-date on the latest developments in the field

Cover image
Title page
Table of Contents
Copyright
List of contributors
Preface to the seventh edition of emery and Rimoin's principles and practice of medical genetics and genomics
Preface to hematologic, renal, and immunologic disorders
Part I. Renal Disorders
1. Congenital Anomalies of the Kidney and Urinary Tract
1.1. Introduction
1.2. Clinical Manifestations of CAKUT
1.3. Familial CAKUT
1.4. Spectrum of CAKUT Phenotypes
1.5. Syndromic CAKUT
1.6. Diagnosis of CAKUT
1.7. Embryonic Development of the Kidney and Urinary Tract
1.8. Pathogenesis of CAKUT
1.9. Disease Causation in CAKUT
1.10. Genetic Features Characteristic of CAKUT
1.11. Mouse Models of CAKUT
1.12. Molecular Pathways in CAKUT Pathogenesis
2. Cystic Diseases of the Kidney
2.1. Introduction
2.2. Autosomal Dominant Polycystic Kidney Disease (MIM 173900)
2.3. Autosomal Recessive Polycystic Kidney Disease (MIM 263200)
2.4. Familial Nephronophthisis
2.5. Autosomal Dominant Tubulointerstitial Kidney/Medullary Cystic Kidney Disease
2.6. Multicystic Dysplastic Kidney Disease (MCDK)
2.7. Genetic Syndromes with Cystic Renal Disease as a Major Component
2.8. Mechanisms of Cystogenesis
3. Nephrotic Disorders
3.1. Introduction
3.2. Glomerular Filtration Barrier
3.3. Nephrin Gene (NPHS1) Mutations
3.4. Podocin Gene (NPHS2) Pathogenic Variants
3.5. Wilms Tumor Suppressor Gene (WT1) Pathogenic Variants
3.6. Phospholipase ε1gene (PLCE1) Mutations
3.7. Laminin-β2 Gene (LAMB2) Mutations
3.8. Inverted Formin 2 Gene (INF2) Pathogenic Variants
3.9. Transient Receptor Potential C6 Ion Channel Gene (TRPC6) Pathogenic Variants
3.10. Type IV Collagen Gene (COL4A3-5) Pathogenic Variants
3.11. Mutations in Genes Encoding Mitochondrial Proteins
3.12. Rare Genetic Disorders of the SD Complex
3.13. Rare Genetic Disorders of the Actin Network
3.14. Mutations in Podocyte Nuclear Proteins
3.15. Polymorphic Gene Variants in NS
3.16. Diagnosis of NS
3.17. Management of Patients with Nephrotic Syndrome
3.18. Conclusions
4. Renal Tubular Disorders
4.1. Introduction
4.2. Generalized Disorders of Tubular Function (Fanconi Syndrome)
4.3. Disorders of Amino Acid Transport
4.4. Glycine and the Imino Acids
4.5. Dibasic Amino Acids and Cystine
4.6. Cystinosis
4.7. Other Forms of Dibasic Aminoaciduria
4.8. Neutral Amino Acids
4.9. Renal Tubular Acidosis
4.10. Proximal Renal Tubular Acidosis (Type 2 RTA)
4.11. Lowe Oculocerebrorenal Syndrome
4.12. Distal Renal Tubular Acidosis (Type I RTA)
4.13. Distal Renal Tubular Acidosis With Neural Hearing Loss (Type 2 RTA)
4.14. Distal Renal Tubular Acidosis With or Without Deafness (Type 3 DRTA)
4.15. Carbonic Anhydrase II Deficiency
4.16. Disorders of Sugar Transport
4.17. Renal Glycosuria
4.18. Fructosuria
4.19. Pentosuria
4.20. Hypophosphatemic Rickets
4.21. Important Areas of Current and Future Research
4.22. Conclusion
5. APOL1-Associated Kidney Disease
5.1. Introduction
5.2. APOL1-Associated Nephropathies
5.3. Human Genetics, Trypanolysis, and APOL1
5.4. The APOL1 Gene and Protein
5.5. APOL1 Function and Effect of Variants
5.6. Recessive but Gain of Function
5.7. Models of APOL1-Associated Disease
5.8. Nonkidney Phenotypes
5.9. APOL1 Second Hits: Genes and/or Environment
5.10. Clinical Implications
5.11. APOL1 and Kidney Transplantation
5.12. APOL1 in the Clinic
5.13. Racial Disparities in Kidney Disease
Part II. Hematologic Disorders
6. Hemoglobinopathies and Thalassemias
6.1. Introduction
6.2. Hemoglobin Genetics
6.3. Normal Human Hemoglobin
6.4. Human Hemoglobin Variants
6.5. Sickle Cell Disease and Related Disorders
6.6. Unstable Hemoglobin Variants
6.7. Hemoglobin Variants With Altered Oxygen Affinity
6.8. Thalassemias
7. Disorders of Hemostasis and Thrombosis
7.1. Overview of Hemostasis and Thrombosis
7.2. The Coagulation Cascade
7.3. Inherited Disorders Predisposing to Thrombosis
7.4. Interactions Among Multiple Genetic Defects
8. Amyloidosis and Other Protein Deposition Diseases
8.1. Introduction
8.2. Hereditary Systemic Amyloidosis
8.3. Clinical Variations in FAP
8.4. Genetics
8.5. Other Systemic Amyloidoses
8.6. Diagnosis
8.7. Management
8.8. Alzheimer Disease
8.9. Gerstmann–StrÄussler–Scheinker Disease
8.10. British Dementia
8.11. Corneal Dystrophies
8.12. Other Localized Amyloidoses
8.13. Conclusion
9. Leukemias, Lymphomas, and Plasma Cell Disorders
9.1. Introduction
9.2. Myeloproliferative Neoplasms
9.3. Myelodysplastic Syndromes
9.4. Acute Myeloid Leukemia
9.5. Therapy-Related Myeloid Neoplasms
9.6. Clonal Hematopoiesis
9.7. Acute Lymphoblastic Leukemia
9.8. Mature B Cell Neoplasms
Acknowledgments
Part III. Immunologic Disorders
10. Inherited Complement Deficiencies
10.1. Introduction
10.2. Introduction to the Complement System
10.3. The Classical Pathway
10.4. The Alternative Pathway
10.5. The Lectin Activation Pathway
10.6. The Membrane Attack Complex
10.7. Regulation of Complement Activation
10.8. Inherited Complement Deficiencies
10.9. Management of Complement Deficiencies
11. Heritable and Polygenic Inflammatory Disorders
11.1. Introduction
11.2. Autoimmunity
11.3. The Immune Response
11.4. Genetics of Autoimmune Diseases
11.5. HLA Allelic Diversity and Population Genetics
11.6. Genetic Susceptibility to Autoimmune Disease
11.7. HLA and Other Genotypes
11.8. Rheumatoid Arthritis
11.9. Seronegative Spondyloarthropathies
11.10. Spondyloarthritides
11.11. Ankylosing Spondylitis
11.12. Reactive Arthritis (Previously Reiter Syndrome)
11.13. Enteropathic Arthritis
11.14. Psoriasis and Psoriatic Arthritis
11.15. Juvenile Idiopathic Arthritis
11.16. Systemic-Onset JIA (Still Disease)
11.17. Oligoarticular JIA
11.18. Polyarticular JIA
Index