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PORTLAND, Ore. — By the time her mother received the doctor’s email, Yuna Lee was already 2 years old, a child with a frightening medical mystery. Plagued with body-rattling seizures and inconsolable crying, she could not speak, walk or stand.

“Why is she suffering so much?” her mother, Soo-Kyung Lee, anguished. Brain scans, genetic tests and neurological exams yielded no answers. But when an email popped up suggesting that Yuna might have a mutation on a gene called FOXG1, Soo-Kyung froze.

“I knew,” she said, “what that gene was.”

… continue reading ‘Infinitesimal Odds: A Scientist Finds Her Child’s Rare Illness Stems From the Gene She Studies’

Image: By Merlin G. Butler, Syed K. Rafi, Ann M. Manzardo and Lorie Gavulic (illustration) – Merlin G. Butler, Syed K. Rafi and Ann M. Manzardo. “High-Resolution Chromosome Ideogram Representation of Currently Recognized Genes for Autism Spectrum Disorders.” Int. J. Mol. Sci. 2015, 16(3), 6464-6495; doi:10.3390/ijms16036464 http://www.mdpi.com/1422-0067/16/3/6464/htm PMC 4394543, CC BY 4.0, https://commons.wikimedia.org/w/index.php?curid=42017158

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