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HPS Network and NOAH partner for American Academy of Human Genetics









The HPS Network and NOAH partnered on the American Society of Human Genetics meeting to get the word out about NOAH and the HPS Network. Because most geneticists know about albinism, we used the brand new HPS Network booth. We handed out NOAH literature and the flyer about raising a child with albinism. Of course, we also handed out HPS brochures and instructions on how to diagnose HPS. It was a great show!

I'm extremely happy about our new booth. The old one weighed almost 100 pounds and was a major pain to travel with. This one is made of cloth, folds up into a bag smaller than my purse, and it weighs less than my purse! Of course, I carry rocks in my purse - or so the rumor goes.

Thanks to Mervin for organizing the order for the new booth!

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