What is an interesting, not too well known, genetic disease?

Question

This is for my biology class and I have to do a presentation

Answer 1

Hemochromatsis
I wrote a term paper on this last year as it runs in my family.
It's a genetic disease caused by a mutation on the sixth chromosome.
It results in a high iron content in the blood, which can result in cirrhosis of the liver, liver cancer, and death, as well as a host of other things including sallow skin etc.
This is treatable(not curable, as it's genetic) by blood letting for most, and is seen earlier in males because females lose blood until after menopause through the menstrual cycle.

Good Luck, and feel free to contact me if you have questions or need help!

Answer 2

I guess interesting is a matter of opinion or affliction. But there are a few cool choices that you could use.

1. Achondroplasia: Sounds big, but it's what causes "little people." It's a type of dwarfism. That's pretty neat and the genetics aren't that difficult.

2. Cystic Fibrosis: This is a genetic disease that affects a rather significant percentage of white kids around the globe.

3. Sickle Cell Anemia: Another genetically linked disease that effects a large number of African Americans.

These are 3 common, but interesting genetic diseases in which there is a ton of information about on the internet. Good luck with your presentation.

Answer 3

Tay-Sachs disease is an interesting one, a genetic disorder that is most common among those of Ashkenazi Jewish descent, and a good example of a disease that has been shaped by history.

There is a hypothesis that heterozygous carriers of Tay-Sachs are more intelligent than standard baselines, and that this advantage may be why the disorder remains in certain populations (southwestern rural Quebecois and Louisiana cajuns have similar increased incidences of the disease, and so do some Irish groups to some extent).

Answer 4

Hold up sweetie.

Okay, well it's called Kilinefelter's Sydrome and it's a condition that affects males. The way this happens is that all normal humans have 46 chromosmes, but sometimes sometimes men get an extra X chromosome. In order to eb a guy, you need one Y chromosome and one X chromosme, and in order to be a chick you need two X chromomes... So what ahppnes is that if a guy gets two X chromosmes, he's affected by this condition. At first nothing bad happens. I mean, it's not like your deformed or anything. But when your a guy with this conditon it really sucks cause you don't mature at all. You look like a little boy while all the other teenage boys are growing armit hair and beards. So what you do, is takes testosterone so you can go thru puberty like any normal guy. Here' more info, I hoped I helped. This condition is kind of rare, and not too many people know about it.


OH! BTW, some guys don't even know they have this condition til they go thru puberty and they see they haven't matured at all. Well here's some links:

http://en.wikipedia.org/wiki/XXY
http://www.aaa.dk/TURNER/ENGELSK/KLINEN.HTM
http://ghr.nlm.nih.gov/condition%3Dklinefeltersyndrome
http://www.umm.edu/ency/article/000382.htm

Answer 5

In the way back days I did a bio presentation on Osteogenesis Imperfecta- http://www.oif.org/

That's the disease that you always hear about when the parents are accused of beating their kid because their kid had broken bones.

For chromosomal disorders, cri du chat, or -5p is awesome to write about http://www.fivepminus.org/ lots of symptoms from one little piece of genetic material.


Cornelia de Lange Syndrome is a great one to profile, too http://www.cdlsusa.org/about_cdls/faq.shtml that's one that more people should know about. It's caused by a mutation in one gene, but has bajillions of symptoms

Leber's optic neuropathy is a mitochondrial DNA disorder, so that's interesting to give a presentation on.
http://jim.leeder.users.btopenworld.com/LHON/lhonhome.htm

Answer 6

I was just reading about hemachromotosis. It's a disease where the body stores up and locks up iron in the body instead of using it. It treated through bleeding (bleeding gets rid of the excess iron in the blood).

Here's a website with info:
http://chealth.canoe.ca/columns.asp?columnistid=6&articleid=5150&relation_id=3224

Answer 7

Progeria. It causes childrens bodies to age at an incredible rate. They become like 80 year olds at a young age, and they have a short life span.

Answer 8

Huntington's Disease, also known as Huntington's Chorea.
It is very interesting, however devastating to those that have it.

Answer 9

If you want a really really cool one- pick Angelman's/Prader-Willi. The cool thing about it is that it is epigenetic- depending on which parent you get the gene from there is a different etiology.

Answer 10

Ehlers Danlos Syndrome..what used to be called " double jointed " if want a personal feel to your presentation, please email me...this is the disorder I have.