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Interesting Human genetic disorder

Discussion of all aspects of biological molecules, biochemical processes and laboratory procedures in the field.

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Interesting Human genetic disorder

Postby ericxfresh » Wed Apr 08, 2009 2:36 am

I'm doing a project on a genetic disorder, what do you think are some interesting genetic disorders? I'm speaking form a molecular perspective, not phenotypic.
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Postby MrMistery » Wed Apr 08, 2009 12:32 pm

I've always found fragile-X syndrome to be kinda cool.
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Re: Interesting Human genetic disorder

Postby jonmoulton » Wed Apr 08, 2009 3:36 pm

Bardet-Biedl syndrome is an interesting ciliopathy.

Badano JL, Leitch CC, Ansley SJ, May-Simera H, Lawson S, Lewis RA, Beales PL, Dietz HC, Fisher S, Katsanis N. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature. 2006 Jan 19;439(7074):326-30. Epub 2005 Dec 4

Another intriguing syndrome is Hutchinson-Gilford progeria.

Scaffidi P, Misteli T. Lamin A-dependent nuclear defects in human aging. Science. 2006 May 19;312(5776):1059-63. Epub 2006 Apr 27.

Scaffidi P, Misteli T. Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome. Nat Med. 2005 Apr;11(4):440-5. Epub 2005 Mar 6.
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