Case Example

Annie arrives at her office at the local hospital and looks at the day’s schedule.  She sees that her first patient is at 10 o’clock and is being referred to genetics because of a family history of a genetic condition called Hereditary Hemorrhagic Telangiectasia or HHT.  Annie remembers learning about this condition in graduate school.  She remembers that it is inherited in an autosomal dominant fashion and that it is associated with frequent nose- bleeds.  Beyond that, however, she cannot remember the other characteristics of the condition or what genes are known to be responsible for the condition. 

Annie boots up her computer and types in the following web address: www.genetests.org.  On this website, funded by the NIH and maintained by the University of Washington, she can look up hundreds of different genetic conditions and find out about their inheritance, penetrance, disease characteristics, management, testing, and more.  From the homepage, Annie clicks on the ‘GeneReviews’ link on the top menu bar, types in HHT, and, on the next page, chooses ‘reviews’.

Try looking this up yourself.
What are some of the other characteristics of HHT?
What are the genes are associated with HHT?

Try looking up other conditions as well.

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