[ellemkay (OP)]

Greetings! I have a request for all those not bogged down with readings for class. I have to choose a genetic disorder to write a paper and give a presentation about for my graduate program. I was wondering if any of you wise folks knew of any new research on any particular condition that would be interesting, or even knew of some bizarre condition that would be interesting to learn more about. I'm especially interested in metabolic conditions, but any suggestions are welcome. Thanks so much!!

Lisa

[DoctorBeaver]

Welcome to TNS, ellemkay.

You could try having a look at this - Cat Eye Syndrome http://www.nt.net/a815/cateye.htm

This is 1 of the genetic disorders I came across when I was researching possible genetic causes of ASD.

As you're studying for a degree (what is it that you're studying?), you should be able to understand the techie jargon.

Another 1, more metabolic than CES, is megaloblastic anemia 1, or Imerslund-Gräsbeck syndrome. I'm not sure if I have any links for that. I'll have a look later.

If these aren't any use to you, give me a shout; I've got quite a lot of info on genetic disorders on a CD - if I can find it (my dog decided to attack my CD & DVD carousels so all my disks are in total disarray).

Good luck with the paper & presentation. I'm glad I don't have to worry about such things any more.

[DoctorBeaver]

Here's a link to a site about Imerslund-Gräsbeck syndrome http://bloodjournal.hematologylibrary.org/cgi/content/full/94/10/3604

This 1 is about Crigler-Najjar disease
http://it.geocities.com/criglernajjar/tre.htm

Glutaric Acidemia Type-II
http://209.85.129.104/search?q=cache:StEFfWlxN8EJ:mchneighborhood.ichp.edu/pacnorgg/media/Metabolic/glut_acid_eng.pdf+Glutaric+Acidemia+II&hl=en&ct=clnk&cd=3

I have others, but these should suffice to start.