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. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians
Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject.
This book is essential reading for researchers and students exploring applications of genomics to population and public health.
While the creation of novel CRISPR mouse models and the use of NGS (ChIP Seq, RNA Seq, etc) have become more routine for fields such as oncology, rare disease researchers are now making advances in modifying and applying these approaches ...
Next Generation Sequencing (NGS) for Rare Diseases Diagnosis
Comprehensive and clinically relevant, Genomic Disorders: The Genomic Basis of Disease offers genome and clinical genetics researchers not only an up-to-date survey of genome architecture, but also details those rearrangements that can be ...
This book is a valuable resource not only for medical and allied health students but also for researchers, clinical and nurse geneticists, genetic counselors, and physician assistants.
This book gives readers a firsthand look at the impact genome sequencing and other advanced techniques are having on rare diseases.
In addition, the book considers valuable medical applications related to human genome sequencing, such as gene therapy methods and the identification of causative mutations in rare genetic disorders.
It recounts extraordinary breakthroughs and hopes for the future. Many of the disorders that will end our lives are in some part genetically influenced. We really are all orphans, and this book is for all of us.
This book highlights the current state of biomarkers and will aid scientists and clinicians to develop better and more specific biomarkers for disease management.