Orphan
Subtitle: the quest to save children with rare genetic disorders
By: Philip R. Reilly
Published: 2015
Language: eng
Number of pages: 388
ISBN-13: 9781621821373
Subjects: Research; Genetic disorders in children; Medical genetics
Description: "This book is about the struggle to save the lives of children who, because of a roll of the genetic dice, are born with any one of more than several thousand rare genetic disorders. It recounts the now century long effort of small groups of physicians and scientists to take on some of these genetic diseases. In many cases just a few physician-scientists have made an immense contribution to blazing a path toward new therapies"--
Notes: Includes bibliographical references and index.
Table of contents: title: Machine generated contents note:; title: (preliminary); title: Preface; title: Introduction; title: Acknowledgments; title: Dedication; title: 1. Diet; title: Black Diapers: Archibald Garrod and Inborn Errors of Metabolism; title: Phenylketonuria; title: Neural Tube Defects; title: 2. The Birth of Medical Genetics; title: False Start; title: The Founding Fathers; title: Genetic Counseling; title: 3. Blood; title: Beta-Thalassemia; title: Sickle Cell Anemia; title: Hemophilia; title: 4. Genetic Testing; title: Prenatal Testing; title: Carrier Testing; title: Pre-implantation Genetic Diagnosis; title: 5. Stem Cells; title: History; title: Bone Marrow Transplants; title: Cord Blood; title: 6. Enzyme Replacement Therapy; title: Gaucher Disease; title: Fabry Disease; title: Pompe Disease; title: Substrate Reduction; title: 7. Gene Therapy; title: Recombinant DNA; title: Gene Therapy Comes of Age; title: Leber's Congenital Blindness; title: X-linked Adrenoleukodystropy; title: 8. Working Around Mutations; title: Marfan Syndrome: Protecting the Aorta; title: Friedreich's Ataxia: Up-regulating Frataxin; title: Fragile X Syndrome: HDAC Inhibitors; title: Spinal Muscular Atrophy: Making More SMN2; title: 9. Delivering Structural Proteins; title: Butterfly Children: Dystrophic Epidermolysis Bullosa; title: Lotus Tissue Repair; title: Congenital Muscular Dystrophy; title: 10. Ligands; title: X-linked Hypohidrotic Ectodermal Dysplasia; title: Edimer Pharmaceuticals; title: 11. Mending Broken Proteins; title: Lysosomal Storage Disorders: Chaperone Molecules; title: Duchenne Muscular Dystrophy: Exon Skipping; title: Cystic Fibrosis: Reshaping the Channel; title: 12. What's next?; title: AAV Gene Therapy; title: Induced Pluripotent Stem Cells; title: RNAi; title: Gene Editing; title: The Therapeutic Horizon: Down Syndrome; title: Fetal Genome Sequencing; title: 13. We Are All Orphans; title: Progress Thus Far; title: Beyond Single Gene Disorders; title: Parkinson Disease; title: Autism; title: Personalized Medicine; title: Footing the Bill; title: Challenges Ahead.