Introduction to Rare Genetic Disorders

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.

Future of Genetic Therapies

It further reviews the future of genetic therapies for the treatment of rare genetic diseases and examines the recent advancements in the field of genetic testing for the diagnosis of these diseases.

Genetic Variants and Phenotypic Variability

The book also covers the role of variants in the genome (genetic modifiers) that alleviate (suppress) or exacerbate (enhance) the severity of the disease, resulting in the variability of phenotypic outcomes.

Animal Models and Therapeutic Evaluation

Further, the book examines different animal models for critical understanding of disease mechanisms, and the opportunity to evaluate the effect of therapeutic compounds in pre-clinical studies.

Drug Discovery and Biological Approaches

The subsequent chapters present the state-of-the-art drug discovery strategies and biological approaches for the treatment of rare genetic disorders.

Challenges and Future Opportunities

Towards the end, the book reviews the current challenges in the diagnosis and treatment of the patients of rare genetic disorders and future opportunities.

This book is useful for clinical geneticists, molecular and biochemical geneticists, researchers working in gene therapy and genome editing.