Monday, December 01, 2008

HPS Network attends human genetics conference

Representatives from the HPS Network attended the 50th annual meeting of the American Society of Human Genetics (ASHG), held Nov. 11 – 15, 2008 in Philadelphia. Their goal – to increase awareness of HPS among geneticists and to promote HPS screening for those with albinism.

Often families with a new diagnosis of albinism are referred to geneticists. Parents are either discouraged from spending the money to discover the specific gene causing the albinism, or geneticists do testing for pigment genes known to cause albinism. Known HPS genes are not part of that panel of tests. Genetic testing for HPS can be inconclusive because all of the HPS genes have not yet been identified.

But, a simple blood draw sent to Dr. White at the University of Minnesota can easily be done. Dr. White views the blood platelets under an electron microscope. If he sees dense bodies in the membrane of the platelet cell, then the patient doesn’t have HPS. If the dense bodies are missing, than the patient does have HPS. The test its self is free, thus families need only pay for the blood draw and the shipping of the sample – an expense that pales in comparison to other genetic testing.

The HPS Network manned a booth on the trade show floor to help educate those in the genetics profession about HPS testing.

Cookies were offered to help generate interest in the exhibit – chocolate chip for “regular” platelets and “butter” cookies for HPS platelets. Images from Dr. White were used to show what “normal” vs. HPS platelets look like under the electron microscope. Interestingly enough the chocolate chip cookies were by far the favorites.

Several researchers from the National Institutes of Health were also at the meeting presenting research on HPS to the genetics community. One of those presentations was a poster from Dr. Meredith summarizing the results of her study on how HPS affects women and their cycles as well as other common complications.

Kevin O’Brien and Donna Appell also visited a nearby clinic in Philadelphia that has agreed to become a center of excellence for HPS. The clinic is willing to help families in the Philadelphia area seek HPS testing.

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