Anyone want to give me a good genetic disease?

Question

I need a GOOD genetic disease for a biology project. Please list the name of the disease, what it does, abnd where to find information about it. Thank you very much!

Answer 1

Here is a list of genetic diseases:
http://www.kumc.edu/gec/support/

Achodroplasia is cool. (They're the "little people" with the short arms and legs) There are lots of links if you follow the achondroplasia link on the website above.

Answer 2

Here are a few you might find interesting. Further research on any may be done on the web. A search will turn up some good results.

Phenylketonuria - A genetic inability to metabolize the amino acid phenylalanine. can be controlled through diet. Uncontrolled phenylketonuria can result in paralysis and mental retardation. (Similar disorders include maple syrup urine disease and blue diaper syndrome. All are protein metabolism disorders.)

Downs Syndrome is a well known genetic disease, caused by an extra chromosome.

There are also gender genetic disorders, like having an XXY or XYY chromosome, where usually women have XX and men have XY. These can cause someone who appears male or appears female, but has reproductive organs of the opposite sex.

Answer 3

cystic fibrosis. its one of the most studied and understood of the genetic diseases. it is a mutation of the CFTR (CF transmembrane conductance regulator) gene and the endoplasmic reticulum does not allow the mutated gene to escape. This causes the gene to clog up the sweat glands which causes mucus to accumulate in the lungs and nasal passages. it is easily first diagnosed by measuring the amount of salt released by a sweat gland (CF patients have excessively salty sweat). it has been a while since we studied CF but it was really interesting. wikipedia is a good place to start to get a handle on it, but try the mayo clinic's website and cystic fibrosis foundation.

Answer 4

Prader-Willi syndrome. Very interesting and unusual.

Just Google Prader-Willi syndrome.