1. Inherited Diseases Genetic diseases passed from parents to child before birth

2. Examples of Inherited Diseases Tay Sachs Hemophilia Cystic Fibrosis Huntington’s Disease Polycystic Kidney Disease Hemachromatosis Sickle Cell Disease

3. Tay Sachs What is it? A metabolic disease caused by the lack of an enzyme to efficiently breakdown fatty acid. What is the outcome? Severe neurological disorders with death usually occurring before age 4. What are the symptoms? Loss of motor skills. Loss of muscle tone. Listlessness and Irritability.

4. Hemophilia What is it? A metabolic disease caused by the lack of a protein necessary to efficiently clot blood. What is the outcome? Prone to excessive bleeding, but modern drug therapy can lessen effect. What are the symptoms? Bruise easily. Blood slow to clot.

5. Cystic Fibrosis What is it? A disease caused by the production of abnormal, thick, sticky mucus. What is the outcome? Death caused by lung infections usually before age 35. What are the symptoms? Coughing and wheezing. Diarrhea. Chronic lung infections.

6. Huntington’s Disease What is it?A progressive disease caused by the deterioration of nerve cells in the brain. What is the outcome? Continual decline in mental and physical ability; death usually occurs 15 to 20 years after onset. What are the symptoms? Difficulty walking. Uncontrollable body movements. Memory and cognitive impairment.

7. Polycystic Kidney Disease What is it? A disease caused by the development of fluid-filled growths called cysts inside the kidney. What is the outcome? Dialysis or a kidney transplant may eventually be required. What are the symptoms? Blood in urine. Lower back pain. Kidney stones.

8. Hemachromatosis What is it?A metabolic disease caused by the over absorption of iron. What is the outcome? Damage to multiple organs due to excess iron. What are the symptoms? Joint pain. Fatigue. Heart problems.

9. Sickle Cell Disease What is it?A metabolic disease caused by the production of deformed hemoglobin. What is the outcome? Death in middle age due to increased risk of stroke, heart attack, and infection. What are the symptoms? Fatigue. Yellow colored skin—Jaundiced. Increased number of infections.

10. How Are Diseases Inherited? Passed from parent to child in the genetic material in the same way that all traits are passed to the next generation.

11. What Is Genetic Material? Genetic material refers to the chemical molecules that encode all the instructions cells need to function. These instructions are passed on to the next generation when cells reproduce. Reproductive cells carry the genetic material to create a new organism.

12. Human Reproductive Cells Egg: Produced by females in the ovary. Sperm: Produced by males in the testis. Both types of cells carry the genetic material needed to form a new human.

13. Egg Cell Used with permission Scott Kaplan, Pacific Fertility Center http://www.infertilitydoctor.com/lab/lab_embryo_devel.htm

14. Sperm Cells Used with permission of Sandra Caudle, Calhoun Community College http://webnt.calhoun.edu/distance/Internet/Natural/anatomy/EndoRepro/spermcells. html

15. What Causes Inherited Diseases? Genetic material of a cell is changed causing a change in the cell’s and ultimately the body’s function which lead to a disease. The changed genetic material is passed from parents to child.

16. Reproductive Cells and Chromosomes Chromosomes contain the genetic material. Each reproductive cell contains one copy of each of the 23 human chromosomes.

17. Fertilization Sperm cell fuses with egg cell. The nucleus of the sperm cell is injected into the egg cell. After the sperm fertilizes the egg, a zygote containing 23 pairs of chromosomes is formed.

18. Early Zygote Used with the permission of Richard Sherbahn, MD. Advanced Fertility Center of Chicago http://www.advancedfertility.com/embryos.htm Nuclei from egg and sperm fusing

19. What Are Chromosomes? Complex structures found in the nucleus of cells. Different types of organisms have different numbers of chromosomes. Number of chromosomes does not indicate complexity of the organism.

20. Number of Chromosomes in Cells from Different Animals Human46 Dog78 Cat38 Horse64 Cow60 Sheep54 Microsoft Office Clip Art www.microsoft.comwww.microsoft.com