Progress, Pioneers and Process (ePub)

This book describes the growth of information on specific aspects of physiology and pathology of particular disorders and provides an analysis of the processes and contributions of pioneers to discovery. It begins primarily in the second half of the 19th century and explores specific contributions of researchers through to the 20th and 21st centuries. The book revisits specific aspects of physiology, biochemistry and molecular biology relevant to genetic medicine. In addition, it provides a review of specific human disorders that the author has encountered during her career, as well as an analysis of the progress in determining disease mechanisms and improving therapies.

The chapters in this book provide insights into the processes of research and discovery, as well as how elucidation of disease mechanisms translates into research in diagnostics and treatments.

The book provides historical information and current information obtained from recent journals and presentations, on each of the topics discussed.

• Cells and Organelles
• Proteins
• Insights Gained from Studies of Rare Diseases
• Genes and Genomes, Individuals and Populations
• Metabolism and Genetic Variation
• Congenital Malformations and Developmental Deffects
• Receptors and Signaling
• Immune Response, Autoimmune Diseases, and Therapeutic Relevance of Immunity
• Cancer
• Gaps in Progress
• Late-onset Neurodegenerative Diseases
• Gene Therapy Antisense Therapy and Gene Editing
• A New Era in Medicine