Table of Contents

Table of Contents

Acknowledgments     
Introduction     

ONE. Basic Facts About Genetics and Genetic Diseases     

TWO. Why the Jews?     

THREE. Blood Disorders     
Gaucher Disease     
Factor XI DeFIciency     
Fanconi Anemia     
Glanzmann Thrombasthenia     
Glucose-6-Phosphate Dehydrogenase (G6PD) DeFIciency     
Thalassemia     

FOUR. Cancer     
Breast Cancer: The BRCA1 and BRCA2 Gene Mutations     
Colorectal Cancer: The I1307K Mutation     

FIVE. Central Nervous System Disorders     
Ataxia-telangiectasia     
Canavan Disease     
Creutzfeldt-Jakob Disease     
Familial Dysautonomia aka Riley-Day Syndrome     
Hunter Syndrome     
Metachromatic Leukodystrophy     
Mucolipidosis Type IV     
Niemann-Pick Disease     
Primary Torsion Dystonia     
Tay-Sachs Disease     

SIX. Connective Tissue Disorders     
Familial Mediterranean Fever     

SEVEN. Gastrointestinal Disorders     
Inflammatory Bowel Syndrome: Ulcerative Colitis and CrohnÕs Disease     
Lactose Intolerance     

EIGHT. Metabolic and Endocrine Disorders     
Abetalipoproteinemia     
Congenital Adrenal Hyperplasia     
Cystinuria     
Essential Pentosuria     
Familial Hypercholesterolemia     
Familial Hyperinsulinism     
Tarui Disease     

NINE. Respiratory Disorders     
Cystic Fibrosis     

TEN. Sensory Disorders     
Hearing Loss     

ELEVEN. Skin Disorders     
Bloom Syndrome     
Pemphigus Vulgaris     

TWELVE. Eliminating Jewish Genetic Diseases     

Glossary     
Appendix: Screening Centers     
Index