Barbara Pearson

Handbook of Medical Genomics Barbara Pearson

The diagnosis, management and counseling of individuals with hereditary disorders is under the scope of medical genomics. Mitochondrial disorders, birth defects and dysmorphology, skeletal dysplasia, mental retardation, etc. are some of the conditions studied and treated under this field. Due to the advancements in genetics, the etiologies of many endocrine, neurologic, cardiovascular, ophthalmologic, psychiatric, renal and dermatologic conditions are being explored. The sequencing of human DNA allows the identification of mutations that are linked to diseases and the genotyping of specific viruses to design treatment strategies. Genetic tests can show predisposition to various disorders such as cystic fibrosis, liver diseases, breast cancer, hemostasis disorders, etc. Genetic medicine incorporates areas such as personalized medicine, gene therapy and predictive medicine. In genetic counseling, information regarding genetic conditions, risks in other family members of developing such diseases, and diagnostic testing are provided to individuals and families. This book contains some path-breaking studies in the field of medical genomics. It unfolds the innovative aspects of genetics and genomics, which will be crucial for the progress of this field in the future. Coherent flow of topics, student-friendly language and extensive use of examples make this book an invaluable source of knowledge.