Explore Fascinating Genetics: Uncovering Rare Diseases

[end3r7]

I know this may sound a tad morbid, but I need an interesting genetic disease that I can write about (mode of inheritance, physiology, treatment, etc) for my intro to genetics class. There are the obvious one's (Turner Syndrome, Down Syndrome, etc), but I was looking for something less common and maybe more interesting (and hopefully less depressing, is there any genetic "disease" with a good effect out there?)

Oh and it needs to be listed in the Online Mendellian Inheritance of Man (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM) , but I think everything you can thing of is probably listed there.

 

[selfAdjoint]

SIckle Cell Anemia? Standard example of balancing adaptation.

 

[end3r7]

Any more ideas? I was leaning towards narcolepsy or color blindness...

 

[LURCH]

How about Albinism? Not as debilitating, so not as morbid to write about. Don't think it is generally reffered to as a "disease", but rather a "condition", (due to its relatively benign nature), but technichally, it is a disease; just a very mild and non-threatening one.