1. Human Genetic Disorders

2. Instructions
Read the information on each slide and complete a chart in your notebooks resembling the one below (you should build your chart as you go to ensure the right amount of space and number of rows).
Genetic Disorder
Symptoms and Populations
Cause
Treatment

3. Down Syndrome
Smaller head, decreased muscle tone, flattened nose, delayed social and mental development, (symptoms will vary)
Chromosomal,
trisomy-21
No treatment

4. Sickle Cell Anemia
Hemoglobin protein made incorrectly; causes sickled RBC; not enough Oxygen carried in blood; pain episodes and joint swelling
Genetic; autosomal codominant; heterozygote has “trait” and is protected from malaria
Treat symptoms
Specific populations affected: Those of African descent and Hispanics of Caribbean descent. 1 in 12 African-Americans has trait; 1 in 500 births has disease

5. http://www. nhlbi. nih. gov/health/health-topics/images/sickle_cell_01

6. Hemophilia
Blood clotting factor protein is not made, so individual will not stop bleeding.
Genetic; Sex-linked recessive
Males
Give blood clotting factor through IV.

7. Red-Green Colorblindness
Cannot distinguish between red and green
Genetic, sex-linked, recessive
Males get more often
No treatment

8. Huntington’s Disease
Brain cells waste away (degenerate) causing behavior and movement changes and dementia in 30’s and 40’s (could start younger).
Genetic, autosomal, dominant
No specific populations
None, can only slow down symptoms

9. Cystic Fibrosis
Unable to move salt across membranes which allow a thick, sticky mucus to build up in digestive and respiratory tracts; causes infections in lungs, prevents digestion, and imbalance of salt through sweating
Genetic, autosomal recessive
No specific populations
Treatment: Chest physical therapy, inhalers, and gene therapy

11. Tay-Sach’s Disease
A fatty acid cannot be broken down, so it builds up in nervous tissue. Symptoms show at 3-6 months; death occurs between 4-5 years.
Genetic, autosomal, recessive
Ashkenazi Jews inherit this more often(1 in 27 carry the gene)
No treatment

12. Phenylketonuria
Cannot break down the amino acid phenylalanine leads to lighter hair and skin, severe social and mental developmental delays, and mousy odor.
Genetic, autosomal recessive
No specific populations
A diet avoiding phenylalanine from birth will prevent symptoms from developing. Foods to avoid include milk, eggs, Nutrasweet, and aspartame

13. Albinism
Body doesn’t produce melanin, which results in very pale skin, hair, eyes, etc. Higher risk of sunburn and light sensitivity.
Genetic, autosomal recessive.
No specific populations.
Treat symptoms by limiting sun exposure, wearing sunscreen and sunglasses.

14. Adrenoleukodystrophy
Disease affecting peroxisomes, organelles that break down fatty acids. Fat tissue builds up around your brain and spinal cord.
Genetic, X-linked recessive
Treatments include dietary therapy, stem cell transplants, and gene therapy (somewhat effective)
Featured in the movie Lorenzo’s Oil

15. Hereditary Deafness
Hearing loss that is inherited by genetics. Not all deafness is genetic.
Since there are different types of hereditary deafness, the inheritance pattern varies.
Hearing aid and other assistive devices, but no cures.

16. Coffin-Lowry Syndrome
People with Coffin-Lowry syndrome experience abnormal growth and development, and severe mental retardation. Microcephaly
Genetic, X-linked
dominant
Treat symptoms

17. Achondroplasia Common cause of dwarfism. Genetic, autosomal dominant
No treatments, but we
are researching
gene therapy.

18. Marfan Syndrome A disorder affecting connective tissue.
People with Marfan
syndrome are unusually
tall and have long limbs.
Genetic, autosomal
dominant.
Treat symptoms.

19. Rett Syndrome
Almost exclusively found in females, results in mental retardation, seizures and other neurological problems.
Genetic, sex-linked
No treatment currently, but possible gene therapy.

20. Klinefelter Syndrome
Disorder where males express feminine characteristics and are frequently infertile.
Chromosomal, XXY (trisomy)
No cure, but symptoms can be treated with testosterone.

21. Turner Syndrome
Females express male features and often have heart problems. They are almost always infertile.
Chromosomal, X (monosomy)
No cure, but symptoms can be treated with growth hormone and estrogen therapy.

22. Klinefelter & Turner Syndromes

23. Progeria A disease marked by premature aging in children.
Genetic, autosomal dominant
No treatments

24. Xeroderma pigmentosum
Inability to repair damage from UV light. Causes skin problems.
Genetic, autosomal recessive
Treated by limiting exposure to the sun.