Genomics of Rare Diseases: Understanding Rare Disease Genetics Through Genomic Approaches

Genomics of Rare Diseases: Understanding Rare Disease Genetics Through 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 phenotypesDiscusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutionsExplores opportunities for novel therapeuticsFeatures chapter contributions from leading researchers and clinicians INDICE: 1. Introduction to basic concepts of genetics and genomics 2. Karyotyping as the first genomic approach 3. Genomic disorders 4. Genomic sequencing for rare diseases 5. Recessive diseases and founder genetics 6. Dominant and X-linked disorders 7. De novo mutations and sporadic disorders 8. Mosaicism in rare disease 9. Dual diagnoses of rare disorders 10. Statistical approaches to Rare Disease analyses 11. Reassessing the prevalence and expressivity of rare diseases 12. Challenges and opportunities in rare diseases research

• ISBN: 978-0-12-820140-4
• Editorial: Academic Press
• Encuadernacion: Rústica
• Páginas: 304
• Fecha Publicación: 01/06/2021
• Nº Volúmenes: 1
• Idioma: Inglés