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Genomics of Rare Diseases
Understanding Disease Genetics Using Genomic Approaches
Examines rare diseases through a genomics lens, employing diverse molecular approaches that support precision medicine and the development of novel therapeutics
Claudia Gonzaga-Jauregui (Edited by), James R. Lupski (Edited by)
9780128201404, Elsevier Science
Paperback, published 25 June 2021
316 pages, 60 illustrations (40 in full color)
23.5 x 19 x 2.1 cm, 0.57 kg
"This timely and well-written book is a useful addition to a dynamic field of study that has changed markedly over the last two decades. It provides an accurate picture of the current state of genomics as applied to the study of human hereditary disease. The field will continue its rapid evolution, and this book provides a way for a variety scientists and medical practitioners to gain entry into the field, whether for the purpose of research or the practice of medicine." --© Doody Review, 2021, Mark F. Sanders, PhD, reviewer, expert opinion "This is an exceptional book for clinicians, clinical laboratorians, and clinical researchers at many different levels. It employs specific diseases and phenotypes to illustrate important genetic concepts and educate about laboratory approaches to genetic diagnosis and gene discovery. The chapters are succinct and well-organized, and the many color illustrations enhance the readers’ comprehension of even the most arcane and complex genetic and genomic phenomena. Similarly, chapters on the laboratory approach to diagnosis provide practical information on various genetic and genomic platforms and describe the underlying technologies, providing the reader the tools to understand and apply genomic analyses in both the clinical and research setting ." -- V. Reid Sutton, M.D., Professor of Molecular & Human Genetics, Baylor College of Medicine
Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism.
1. Introduction to concepts of genetics and genomics
2. Karyotyping as the first genomic approach
3. Genomic disorders
4. Genomic sequencing of rare diseases
5. Recessive diseases and founder genetics
6. Dominant and de novo disorders
7. X-linked and mitochondrial disorders
8. Mosaicism in rare disease
9. Dual diagnoses of rare disorders
10. Statistical approaches to rare disease analyses
11. Transcriptomics in rare diseases
12. Other omics approaches to the study of rare diseases
13. Challenges and opportunities in rare diseases research
Subject Areas: DNA & Genome [PSAK1], Genetics [non-medical PSAK]
