Human Genetics: From Molecules to Medicine

Human Genetics: From Molecules to Medicine provides balanced coverage of molecular and clinical genetics for the preclinical medical student with relevant examples of the application of basic science to clinical medicine. With its unique, systems-based approach ideal for integrated curricula, the text guides students through their genetics, pediatrics, and medicine rotations and will also be helpful as a pocket resource for residents in pediatrics, internal medicine, family medicine, and obstetrics. Content has been carefully adapted from the critically acclaimed German text for the English language audience.

Excursions boxes feature information that helps students tie abstract concepts to more concrete examples.
Chapter objectives prepare students for the material to follow.
More than 100 full-color clinical photographs profile common and rare disorders.
More than 50 full-color diagrams illustrate concepts visually.
Highlighted terms within chapters and end-of-text Glossary make it easy to locate and understand the language of genetics.
Online cases with recommendations for diagnosis and treatment
Online quiz bank with USMLE-style questions
Fully-searchable text online

Christian P Schaaf MD
Baylor College of Medicine, Houston, TX


Johannes Zschocke MD, PhD
Metabolic Geneticist, Director of Molecular Genetics Laboratory, Department of Pediatrics I, University Children's Hospital, Heidelberg, Germany


Lorraine Potocki MD
Associate Professor of Human Genetics, Baylor College of Medicine, Houston, TX

1. Introduction Part I: The Biological Basis of Human Genetics 2. Molecular Basis of Human Genetics 3. Mutations and Genetic Variability 4. Pathomechanisms of Genetic Diseases 5. Modes of Inheritance 6. Twin Pregnancies 7. Cancer Genetics 8. Aging and Genetics 9. Pharmacogenetics Part II: The Clinical Basis of Medical Genetics 10. Human Genetics as a Medical Specialty 11. Genetic Counseling 12. The Diagnostic Approach for a Child with Multiple Anomalies or Dysmorphic Features 13. Malformations and Other Morphological Disturbances 14. Risk Estimation and Calculation 15. Methods for Laboratory Diagnostics in Genetics 16. Metabolic Diagnostics and Newborn Screening 17. Prenatal Genetic Evaluation 18. Ethical Concerns in Medical Genetics Part III: Clinical Genetics 19. Multiple Congenital Anomalies 20. Skin and Connective Tissue 21.Cardiovascular System and Hematology 22. Respiratory System 23. Gastrointestinal and Digestive System 24. Metabolic Disorders 25. Endocrinology and Immune System 26. Skeletal System 27. Urinary System 28. Genital System and Sexual Development 29. Visual System 30. Auditory System 31. Neurological and Neuromuscular Disorders 32. Neoplastic Diseases Part IV: Approaches to Clinical Problems 33. Infertility and Sterility 34. Miscarriage and Fetal Demise 35. Growth Disturbances 36. Abnormal Head Size 37. Immunodeficiency Syndromes Part V: Living with Genetic Disorders – Patient Reports 38. Reports of Patients and Their Families Glossary