Bøger af Wayne W. Grody

Emery and Rimoin¿s Principles and Practice of Medical Genetics and Genomics: Developmental Disorders, Seventh Edition is distinguished as the ultimate resource for clinicians integrating genetics into medical practice. This updated edition 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. 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 in medicine more broadly. Users will find comprehensive sections on medical genetics applied to a range of developmental disorders and an emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Updated chapters on human developmental genetics as well as the genetics of sexual development, clefting, dental, and craniofacial syndromes, craniosynostosis, rasopathies, sex-chromosome abnormalities, and autosomal deletions, among other disorders are included.

In the past, many tumor marker laboratory tests have not been sensitive enough for the very early detection of cancer. However, many of them have nonetheless proved useful in monitoring therapy, following the course of the tumor, and predicting prog­ nosis. Today, cancer may be viewed as a genetic disease with various specific chromo­ somal and nucleotide aberrations, such as mutations, deletions, gene amplification, gene rearrangements, and translocations occurring during the transformation of a nor­ mal cell into a malignant cell. The considerable advances in technology during the past several years have greatly enhanced our ability to detect human cancers in the very early stages of tumor forma­ tion. These technologies include: (1) nucleotide molecular assays (genomics); (2) proteomics (multiplex protein measurements); (3) DNA microarrays; and (4) bio­ informatics. Many of these technologies are already helping in the integration and use of multiple biomarkers for tumors. Although the individual biomarkers may reveal only limited information, the use of multiple biomarkers can help markedly elevate the diagnostic capabilities for early detection of tumors.