内容

目次

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 β-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