Precision Medicine in Pediatric Health is an invaluable resource on state-of-the-art tools, technologies and social and ethical issues involved in fully realizing precision medicine in new pediatric research and healthcare. The book adopts a holistic approach that is grounded in key learning points and practical case studies of interest to interdisciplinary teams of researchers and clinicians working in pediatrics. Chapters provide a thorough introduction to basic principles of precision medicine, its growing role in research and clinical care, relevant technologies and digital health. From there, the book examines best practices and offers support for implementing precision medicine in research and clinical settings.Chapters are devoted to varying specialties, such as prenatal and fetal health, oncology, cardiology, neurology, rare diseases, developmental disorders, and precision therapeutics, including small molecule and gene and cell-based therapies. These sections are followed by a close look at ethical, legal and social implications of precision medicine in pediatrics, patient perspectives and next steps in research and clinical translation.
Presents succinct commentary and key learning points that support the translation of precision and genomic medicine
Highlights the practical use of precision medicine in the management of pediatric patients
Provides a comprehensive volume that is written and edited by leading researchers, clinicians and scientists
Active researchers, basic and translational scientists, clinicians, postgraduates, and students in the areas of genetics, human genomics, pediatrics, pathology, oncology, bioinformatics; medical students, pediatricians and pediatric residents; internal medicine physicians and residents; genetic counselors and genetic counseling students; clinical and laboratory genetics trainees; physicians and trainees of other subspecialties (pathology, gastroenterology, oncology, endocrinology, neurology, psychiatry, immunology, hematology, rheumatology, nephrology, pulmonology, dermatology); regulators, policy makers, administrators, and business leaders in precision medicine and hospital settings
Table of Contents
1. Introduction to Precision Medicine
SECTION 1: Technologies and Innovation 2. Sequencing technologies 3. Health technologies 4. Digital Health
SECTION 2: Clinical care 5. Genetic counseling 6. Prenatal/Fetal Health 7. Precision Oncology 9. Orphan diseases 10. Cardiology 11. Pharmacogenomics 12. Clinical Care Coordination 13. Small molecule therapeutics 14. Gene and Cell based therapeutics
SECTION 4: Ethical, legal and social implications 15. Ethical/Legal/Social aspect 16. Patient Perspective 17. The Future 18. Take home message/Conclusion
Dr. Bodamer obtained his M.D. degree from the University of Heidelberg, Germany and his Ph.D. degree from the University of Saarland, Germany. Following Pediatric residencies in Germany and at the Great Ormond Street Hospital in London, he moved to the United States for a fellowship in Clinical and Biochemical Genetics at Baylor College of Medicine, Houston, Texas. Following his Directorships of the Austrian Newborn Screening Program, as well as the Division of Pediatric Genetics at the University Children’s Hospital Vienna in Austria, he returned to the United States in 2010 to join the University of Miami as the founding Chief of the Division of Clinical and Translational Genetics and Director of the Medical Genetics Laboratories.
Dr. Bodamer was recruited to Boston Children’s Hospital in 2015 as Associate Chief for Genetics and Genomics, where he also has an established research laboratory. He is member of several editorial and scientific advisory Boards, including Molecular Genetics and Metabolism, Journal of Inherited Diseases and Translational Medicine, and of the Patient Organizations NPKUA and OAA respectively. Recently he has been elected to the Board of the European Society of Human Genetics. Dr. Bodamer is the Director of the Boston Children’s Lysosomal Storage Disease (BolD) Program.
Dr. Bodamer has a busy clinical practice at Boston Children’s Hospital where he sees patients of all age groups with genetic disorders with a focus on Kabuki syndrome. In addition, he is active in several areas of translational genetics and genomics research, clinical trials and involved in educational and teaching activities within Harvard Medical School.