Two years ago, Yiwei She was searching desperately for someone to build a drug for her newborn son, Leo. Leo was born with a very small head, a symptom of many severe diseases. After a seizure at two months, doctors sequenced his genome and found a single misspelling in a gene called TNPO2.
Little was known about the gene, except that it was involved in neurodevelopment. The most recent paper the family found was in fruit flies. Only one other boy in the world had been identified with Leo’s mutation. She contacted the family.
“And we found out from the family that at about age 3, the other boy stopped kind of making progress developmentally,” She said. “We were like, time is of the essence.”
This article is exclusive to STAT+ subscribers
Unlock this article — plus daily coverage and analysis of the biotech sector — by subscribing to STAT+.
Already have an account? Log in
Already have an account? Log in
About the Author Reprints
To submit a correction request, please visit our Contact Us page.
STAT encourages you to share your voice. We welcome your commentary, criticism, and expertise on our subscriber-only platform, STAT+ Connect