Genomics of Rare Diseases

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

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

Active researchers; basic and translational scientists; clinicians in the areas of rare disease, human genetics, human genomics; translational researchers in genetic and genomic medicine, epigenetics, neuroscience, internal medicine, oncology, psychiatry, neurology, immunology, embryology, endocrinology, bioinformatics, prenatal testing, psychology, psychiatry, and genetic testing; genetic counselors; rare disease specialists; fertility specialists; bioethicists; hospital administrators