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Clinical Precision Medicine. A Primer

  • Book

  • November 2019
  • Elsevier Science and Technology
  • ID: 4772247

Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care.

Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine.

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Table of Contents

1. Chromosomes and Chromosomal Abnormalities 2. Molecular Genetics 3. Epigenetic Regulation 4. Heredity 5. Clinical Genetics 6. Pharmacogenomics 7. Immunogenomics

Authors

Judy S. Crabtree Associate Professor of Genetics, Scientific and Education Director, Precision Medicine Program, Director, School of Medicine Genomics Core. Dr. Crabtree received her PhD in Biochemistry from the University of Oklahoma where she was instrumental in sequencing portions of human chromosomes 9, 11 and 22 as part of the Human Genome Project. Her graduate work led to the identification of the gene for Multiple Endocrine Neoplasia, type 1 and she studied the mechanisms of endocrine tumor biology as a Postdoctoral Fellow at the National Human Genome Research Institute, National Institutes of Health under the direction of Dr. Francis Collins. Dr. Crabtree developed the first mouse models of MEN1, characterizing the endocrine pancreatic and parathyroid phenotypes associated with this disease model system. The study of endocrine tumor biology led to a position with Wyeth Pharmaceuticals Research and Development where she established a successful platform for drug development in uterine fibroids and developed mouse model systems to analyze tissue specific estrogenic compounds (TSECs) and androgenetic alopecia. She joined the LSUHSC Department of Genetics in 2009 to study pancreatic biology focusing on the mechanisms of pancreatic islet adaptation in diabetes, obesity and pregnancy as well as mechanisms of neuroendocrine tumorigenesis. Dr. Crabtree has published over 35 publications and was the recipient of the John Haddad Young Investigator Award from AIMM-ASBMR for her work on MEN1.