The Case of the Missing Folate

October 16, 2015 • by Marc Airhart

Richard Finnell studies the genetic underpinnings of neural tube defects such as spina bifida.

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When Richard Finnell first met her, Rachel was a nine-year-old girl with severe developmental delays. Her condition seemed to be caused by a deficiency in a critical B vitamin called folate. Yet she had plenty of folate circulating in her blood. Somehow it was vanishing before it got to her brain and spine.

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