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. Eventually Finnell made a surprising discovery. He's now using new genetic tools like CRISPR to better understand her condition and test possible therapies.

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Questions or comments about this episode, or our series in general? Email Marc Airhart at mairhart[AT]austin.utexas.edu

About Point of Discovery

Point of Discovery is a production of the University of Texas at Austin's College of Natural Sciences and is a part of the Texas Podcast Network. The opinions expressed in this podcast represent the views of the hosts and guests, and not of The University of Texas at Austin. You can listen via Apple Podcasts, Spotify, RSS, Amazon Podcasts, and more. Questions or comments about this episode or our series in general? Email Marc Airhart.