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Human Genetic Disorders

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  1. Human Genetic Disorders Tay Sachs

  2. Definition • Tay Sachs is a deadly disease of the nervous system that is passed down through family members. • Tay Sachs causes the loss of a key enzyme, Hex-A. • Because of this, fatty waste accumulates in brain cells, which progressively damages the nervous system. • Doctors will perform physical, blood, and eye examinations for signs of Tay Sachs disease.

  3. Symptoms • Deafness • Blindness • Decreased Muscle Strength • Delay of Mental and Social Skills • Dementia • Increased Startle Reaction • Irritability • Energy loss • Loss of Motor Skills • Loss of Muscle Function • Seizures • Slow Growth

  4. Treatments There is no treatment for this disease

  5. Inheritance • Tay Sachs is inherited when two parents carry one defective gene on chromosome 15. • If two parents carry the defective gene then the baby will have a 25% chance of developing the disease. • If the child only receives one copy of the defective gene then they are called a carrier and could potentially pass it down to their children.

  6. Tay Sachs Fun Facts • Tay Sachs was named after two people who were critical to discovering early information about the disease. • Warren Tay first described the red spot on the retina of the eye that is now the marker for the disease. • Bernard Sachs first described the cellular changes that take place in the brain as a result of Tay Sachs.

  7. Bibliography • http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002390/ • http://kidshealth.org/parent/medical/genetic/tay_sachs.html