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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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True Religion Genes

A Guide to Jewish Genetics

Kaitlin Medland


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


Ashkenazi or Sephardi

Ashkenazi:

Ancestors came from France, Germany, or Eastern Europe

Sephardi:

Ancestors came from Spain, Portugal, North Africa, and the Middle east


A Quick Biology Review


Mutations


Recessive


Dominant


Bottleneck


The Founder Effect


Genetic Drift


Getting to Know Your Family History


Some Medland History


Survey Results


So What are “Jewish Genetics?”


Genetic Disorders Seen in Sephardi Populations

  • Beta Thalassemia

  • Familial Mediterranean Fever

  • G6PD Deficiency

  • Glycogen Storage Disease, Type III

  • Wolman Disease


Genetic Disorders Seen in Ashkenazi Populations

  • Bloom’s Syndrome1 in 110

  • Canavan Disease1 in 57

  • Cystic Fibrosis1 in 25

  • Familial Dysautonomia1 in 30

  • Familial Hyperinsulinism 1 in 66

  • Fanconi Anemia Group C1 in 89

  • Gaucher Disease, Type 11 in 12

  • Glycogen Storage Disease, Type 11 in 72

  • Joubert Syndrome 21 in 92

  • Maple Syrup Urine Disease1 in 81

  • Mucolipidosis IV1 in 100

  • Nemaline Myopathy1 in 108

  • Niemann-Pick Disease, Type A1 in 90

  • Spinal Muscular Atrophy 1 in 41

  • Tay-Sachs Disease1 in 26

  • Usher Syndrome1F- 1 in 141

    (Type 1F and Type III)Type III- 1 in 107

  • Walker-Warburg Syndrome1 in 149

  • Dihydrolipoamide 1 in 96

    Dehydrogenase Deficiency

  • Hereditary Cancers


Focus for Today

  • The four genetic disorders we will be focusing on today are:

    • Cystic Fibrosis

    • Familial Dysautonomia

    • Tay-Sachs Disease

    • Hereditary Cancer


Cystic Fibrosis

  • Stems from respiratory and GI tracts

  • Early development delays

  • Seizures

  • Treatment Options:

    • Pancreatic enzymes

    • Antibiotics

    • Airway Clearance

    • Lung Transplantation for some


Familial Dysautonomia

  • Inability to regulate sensory and autonomic nervous system

  • Cardiovascular, pulmonary, and GI problems

  • Treatment Options:

    • Management of symptoms

    • Supportive care


FD Video


Tay-Sachs Disease

  • Rapid and progressive deterioration of the brain and nervous system

  • Treatment Options:

    • Supportive care

    • Management of symptoms


Nathan’s Story


Types of Testing

  • Diagnostic Testing

  • Carrier Screening

  • Prenatal Testing

  • Predictive Testing

  • Pre-Implantation Genetic Diagnosis

  • Direct to consumer genetic testing


When to be Screened for Genetic Disorders


What Happens Next?

Egg Donor

Adoption

Sperm Donor

Carrier

25% Chance

Pre-implantation genetic Diagnosis


Intermarriage


Tay-Sachs in Other Populations

  • 1 in 50 Irish-Americans

  • 1 in 250 from the general public


Hereditary Cancer

  • Ashkenazi Jews are at a higher risk for types of breast, ovarian, and colon cancers

  • Predisposition genes

    • BRCA1 and BRCA2 gene mutations


  • Limit fat intake

  • Maintain a healthy body weight

  • Make exercise a part of daily life

  • Cut back on cocktails

  • Don’t smoke


Eating Right

  • Vitamin D

  • Vitamin A

  • Vitamin E

  • Fiber

  • Fruits and Vegetables


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