Full title: Orphan : the quest to save children with rare genetic disorders / Philip R. Reilly.

Author/creator: Reilly, Philip, 1947-.

Call Numbers: G 2015/4027

Record Identifier: 74VKR4P6XK6X

Language: English

Formats: Books

Contents: xix, 388 pages, 12 unnumbered pages of plates ; 24 cm., , , , 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.

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

Notes: Includes bibliographical references and index.

Permalink: https://collection.sl.nsw.gov.au/record/74VKR4P6XK6X

DDC: 618.920042

MMS ID: 991023257949702626