Orphan : the quest to save children with rare genetic disorders / Philip R. Reilly, MD, JD.

"Orphan is about the struggle to save the lives of children who, because of an unlucky roll of the genetic dice, are born with any one of several thousand rare genetic disorders. Many are burdened with diseases that carry mysterious names, some of which you will read about for the first time in this book, along with compelling stories about the physicians, scientists, and parents who have taken them on. Orphan is more than a book about disease and research-it gives voice to thousands of people who, all too often, have endured terrible illnesses, bravely faced arduous clinical trials, and (sometimes) known victories, almost always in silence. It recounts extraordinary breakthroughs and hopes for the future. Many of the disorders that will end our lives are in some part genetically influenced. We really are all orphans, and this book is for all of us"-- Provided by publisher.

"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"-- Provided by publisher.

Cold Spring Harbor, New York : Cold Spring Harbor Laboratory Press, [2015]

xix, 388 pages, 12 unnumbered pages of plates : black and white illustrations, portraits ; 24 cm

Includes bibliographical references and index.

Machine generated contents note: -- (preliminary) -- Preface -- Introduction -- Acknowledgments -- Dedication -- 1. Diet -- Black Diapers: Archibald Garrod and Inborn Errors of Metabolism -- Phenylketonuria -- Neural Tube Defects -- 2. The Birth of Medical Genetics -- False Start -- The Founding Fathers -- Genetic Counseling -- 3. Blood -- Beta-Thalassemia -- Sickle Cell Anemia -- Hemophilia -- 4. Genetic Testing -- Prenatal Testing -- Carrier Testing -- Pre-implantation Genetic Diagnosis -- 5. Stem Cells -- History -- Bone Marrow Transplants -- Cord Blood -- 6. Enzyme Replacement Therapy -- Gaucher Disease -- Fabry Disease -- Pompe Disease -- Substrate Reduction -- 7. Gene Therapy -- Recombinant DNA -- Gene Therapy Comes of Age -- Leber's Congenital Blindness -- X-linked Adrenoleukodystropy -- 8. Working Around Mutations -- Marfan Syndrome: Protecting the Aorta -- Friedreich's Ataxia: Up-regulating Frataxin -- Fragile X Syndrome: HDAC Inhibitors -- Spinal Muscular Atrophy: Making More SMN2 -- 9. Delivering Structural Proteins -- Butterfly Children: Dystrophic Epidermolysis Bullosa -- Lotus Tissue Repair -- Congenital Muscular Dystrophy -- 10. Ligands -- X-linked Hypohidrotic Ectodermal Dysplasia -- Edimer Pharmaceuticals -- 11. Mending Broken Proteins -- Lysosomal Storage Disorders: Chaperone Molecules -- Duchenne Muscular Dystrophy: Exon Skipping -- Cystic Fibrosis: Reshaping the Channel -- 12. What's next? -- AAV Gene Therapy -- Induced Pluripotent Stem Cells -- RNAi -- Gene Editing -- The Therapeutic Horizon: Down Syndrome -- Fetal Genome Sequencing -- 13. We Are All Orphans -- Progress Thus Far -- Beyond Single Gene Disorders -- Parkinson Disease -- Autism -- Personalized Medicine -- Footing the Bill -- Challenges Ahead.