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  • Writer's pictureKirk Hartley

The Power of Collaboration and Old Records and Tissue – An Easy to Grasp Example of Finding a

Old medical records and tissue are becoming increasingly valuable as tools for finding causes of diseases that are related to mutations. An easy to follow example is provided by this Baylor University press release regarding success in finding the mutation tied to a disease known as Prader-Willi syndrome. The story begins as follows – it’s a story worth reading in full, whether as a lawyer or as a parent of a child:

"HOUSTON — (September 29, 2013) — As so many genome studies do, this study published online in the journal Nature Genetics began with a single patient and his parents who were in search of a diagnosis.

The parents of this first patient sought genetic testing for Prader-Willi syndrome when he was only a year old, but the test, which was still in its infancy, came back negative. For the next 12 years, his parents were left in limbo. He had many features of the disease – including lack of muscle tone, feeding difficulties and failure to thrive early on. Autism spectrum disorder and mild intellectual disability became evident as he grew older." …..

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