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True Religion Genes

True Religion Genes. A Guide to Jewish Genetics Kaitlin Medland. Genetic Diseases in General. All Ethnic Groups: Cystic Fibrosis, Fabry Diease , Fragile X Syndrome, Prader-Willi Syndrome, Spinal Muscular Atrophy, WHIM Syndrome. African American: Beta-Thalassemia, Sickle Cell Anemia.

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True Religion Genes

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  1. True Religion Genes A Guide to Jewish Genetics Kaitlin Medland

  2. Genetic Diseases in General All Ethnic Groups: Cystic Fibrosis, FabryDiease, Fragile X Syndrome, Prader-Willi Syndrome, Spinal Muscular Atrophy, WHIM Syndrome African American: Beta-Thalassemia, Sickle Cell Anemia Asian: Alpha-Thalassemia, Beta-Thalassemia, Kawasaki Disease

  3. Ashkenazi or Sephardi Ashkenazi: Ancestors came from France, Germany, or Eastern Europe Sephardi: Ancestors came from Spain, Portugal, North Africa, and the Middle east

  4. A Quick Biology Review

  5. Mutations

  6. Recessive

  7. Dominant

  8. Bottleneck

  9. The Founder Effect

  10. Genetic Drift

  11. Getting to Know Your Family History

  12. Some Medland History

  13. Survey Results

  14. So What are “Jewish Genetics?”

  15. Genetic Disorders Seen in Sephardi Populations • Beta Thalassemia • Familial Mediterranean Fever • G6PD Deficiency • Glycogen Storage Disease, Type III • Wolman Disease

  16. Genetic Disorders Seen in Ashkenazi Populations • Bloom’s Syndrome 1 in 110 • Canavan Disease 1 in 57 • Cystic Fibrosis 1 in 25 • Familial Dysautonomia 1 in 30 • Familial Hyperinsulinism 1 in 66 • Fanconi Anemia Group C 1 in 89 • Gaucher Disease, Type 1 1 in 12 • Glycogen Storage Disease, Type 1 1 in 72 • Joubert Syndrome 2 1 in 92 • Maple Syrup Urine Disease 1 in 81 • Mucolipidosis IV 1 in 100 • Nemaline Myopathy 1 in 108 • Niemann-Pick Disease, Type A 1 in 90 • Spinal Muscular Atrophy 1 in 41 • Tay-Sachs Disease 1 in 26 • Usher Syndrome 1F- 1 in 141 (Type 1F and Type III) Type III- 1 in 107 • Walker-Warburg Syndrome 1 in 149 • Dihydrolipoamide 1 in 96 Dehydrogenase Deficiency • Hereditary Cancers

  17. Focus for Today • The four genetic disorders we will be focusing on today are: • Cystic Fibrosis • Familial Dysautonomia • Tay-Sachs Disease • Hereditary Cancer

  18. Cystic Fibrosis • Stems from respiratory and GI tracts • Early development delays • Seizures • Treatment Options: • Pancreatic enzymes • Antibiotics • Airway Clearance • Lung Transplantation for some

  19. Familial Dysautonomia • Inability to regulate sensory and autonomic nervous system • Cardiovascular, pulmonary, and GI problems • Treatment Options: • Management of symptoms • Supportive care

  20. FD Video

  21. Tay-Sachs Disease • Rapid and progressive deterioration of the brain and nervous system • Treatment Options: • Supportive care • Management of symptoms

  22. Nathan’s Story

  23. Types of Testing • Diagnostic Testing • Carrier Screening • Prenatal Testing • Predictive Testing • Pre-Implantation Genetic Diagnosis • Direct to consumer genetic testing

  24. When to be Screened for Genetic Disorders

  25. What Happens Next? Egg Donor Adoption Sperm Donor Carrier 25% Chance Pre-implantation genetic Diagnosis

  26. Intermarriage

  27. Tay-Sachs in Other Populations • 1 in 50 Irish-Americans • 1 in 250 from the general public

  28. Hereditary Cancer • Ashkenazi Jews are at a higher risk for types of breast, ovarian, and colon cancers • Predisposition genes • BRCA1 and BRCA2 gene mutations

  29. Limit fat intake • Maintain a healthy body weight • Make exercise a part of daily life • Cut back on cocktails • Don’t smoke

  30. Eating Right • Vitamin D • Vitamin A • Vitamin E • Fiber • Fruits and Vegetables

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