A Father’s Hunt For His Daughter’s Genetic Defect

marfan-sydome-uk-logo3.jpgSome people in life can see whole worlds in small things. Hugh Rienhoff can see it in a molecule called Transforming Growth Factor Beta-3. In 2003, his daughter Beatrice was born with a few noticeable abnormalities. Her eyes were spaced wider than usual, her leg muscles were weak, and she wouldn’t gain weight. It resembled Marfan syndrome, a genetic disorder that can cause tears in the human heart, sometimes fatally.

Doctors couldn’t diagnose Beatrice with Marfan or any known disorder, so Hugh Rienhoff, who trained as a clinical geneticist, decided to try to identify the mysterious affliction that had struck his daughter. For nearly a decade, he’s been on a hunt to find the genetic mutation that is responsible for Beatrice’s illness, and now he’s published an academic paper that may trace the route to a mutation in the gene that makes Transforming Growth Factor Beta-3.

More >>> http://health.wusf.usf.edu/post/fathers-hunt-his-daughters-genetic-defect