Welcome to the exciting world of human genetics! Over the past several decades there have been tremendous discoveries in medical genetics and molecular biology, which have fundamentally changed our medical practice. Disease classifi cations are continually being revised according to new genetic data, treatment is individually tailored to molecular information, and genetic counseling helps patients to deal with health challenges. It is not an exaggeration to say that every practicing physicia —irrespective of his or her specialty—will need a strong foundation in the science that is at the heart of molecular medicine. Human Genetics: From Molecules to Medicine is an ideal text for anyone studying medicine in the 21st century as it contains the essential facts as well as clinical scenarios that illustrate the application of molecular biology to the diagnosis and treatment of human disease.
The book has developed from Basiswissen Humangenetik, one of the most popular human genetics textbooks in Germany. It has been praised for the way it distills complex concepts, and students appreciate its brevity and applicability in the clinical setting. In addition to these features, Human Genetics also addresses many of the social and personal aspects of individuals who are diagnosed with inherited disorders, as we include many photographs and narrative accounts that demonstrate individuals living with these conditions. Rick Guidotti’s exceptional photographs from the Positive Exposure initiative enhance the text while portraying the beauty of the diversity inherent in our human race.
All of the authors are practicing physicians. We designed Human Genetics to be as clinically useful as possible while providing the student with the necessary foundation in the most important genetic principles. Parts I and II of the book contain all that a physician really needs to know about molecular and clinical genetics, while Parts III and IV focus on the presentation and management of individuals with genetic disorders, using a systematic approach. Part V provides valuable insight into the lives of those living with genetic disorders.
We extend our appreciation and thanks to our patients and their families who have provided photographs for this edition and who have shared their stories. Heartfelt gratitude goes to our own families, who continue to patiently support us as we put forward our efforts related to this publication.
Christian P. Schaaf, MD, PhD
Johannes Zschocke, MD, PhD
Lorraine Potocki, MD
I The Biological Basis of Human Genetics
II The Clinical Basis of Human Genetics
III Clinical Genetics
IV Approaches to Clinical Problems
V Living with Genetic Disorders: Patient Reports