Rare Genetic Disorders: Advancements in Diagnosis and Treatment

This book introduces different Rare Genetic Disorders (RGDs), and challenges in their diagnosis. The chapters of the book discuss the emerging research and clinical approaches for the diagnosis of rare genetic disorders. It further reviews the future of genetic therapies for the treatment of rare genetic diseases and examine the recent advancements in the field of genetic testing for the diagnosis of these diseases. The book also covers the role of variants in the genome (genetic modifiers)...