Orphan: the quest to save children with rare genetic disorders

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.