True religion genes
Download
1 / 31

True Religion Genes - PowerPoint PPT Presentation


  • 92 Views
  • Uploaded on

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.

loader
I am the owner, or an agent authorized to act on behalf of the owner, of the copyrighted work described.
capcha
Download Presentation

PowerPoint Slideshow about ' True Religion Genes' - amandla


An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.


- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -
Presentation Transcript
True religion genes

True Religion Genes

A Guide to Jewish Genetics

Kaitlin Medland


Genetic diseases in general
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 or Sephardi

Ashkenazi:

Ancestors came from France, Germany, or Eastern Europe

Sephardi:

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













Genetic disorders seen in sephardi populations
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
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


Focus for today
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
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
Familial Dysautonomia

  • Inability to regulate sensory and autonomic nervous system

  • Cardiovascular, pulmonary, and GI problems

  • Treatment Options:

    • Management of symptoms

    • Supportive care



Tay sachs disease
Tay-Sachs Disease

  • Rapid and progressive deterioration of the brain and nervous system

  • Treatment Options:

    • Supportive care

    • Management of symptoms



Types of testing
Types of Testing

  • Diagnostic Testing

  • Carrier Screening

  • Prenatal Testing

  • Predictive Testing

  • Pre-Implantation Genetic Diagnosis

  • Direct to consumer genetic testing



What happens next
What Happens Next?

Egg Donor

Adoption

Sperm Donor

Carrier

25% Chance

Pre-implantation genetic Diagnosis



Tay sachs in o ther populations
Tay-Sachs in Other Populations

  • 1 in 50 Irish-Americans

  • 1 in 250 from the general public


Hereditary cancer
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
Eating Right

  • Vitamin D

  • Vitamin A

  • Vitamin E

  • Fiber

  • Fruits and Vegetables


ad