Mother’s quest leads to breakthrough drug for son’s rare disease

Mother’s quest leads to breakthrough drug for son’s rare disease
State Senator Anthony Palumbo, District 1 — Official U.S. Senate headshot
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Yiwei She, Ph.D., has made significant strides in medical innovation and rare disease research. Her journey began with a personal mission to develop an FDA-approved medicine for her son, Leo, who was diagnosed at four months old with an ultra-rare neurodevelopmental disease linked to a mutation in the transportin-2 (TNPO2) gene. This condition is known to affect only two individuals globally.

Dr. She founded the TNPO2 Foundation, a non-profit organization focused on creating accessible pathways for early diagnosis and treatment of children with ultra-rare diseases. Her background as an academic mathematician and engineer at Landing.AI provided her with the skills necessary to navigate this complex field.

The TNPO2 Foundation is named after the transportin-2 gene, which plays a crucial role in cellular protein transport and can lead to severe health issues like seizures and developmental delays. The foundation recently launched Project Baby Lion in partnership with Stony Brook Children’s Hospital NICU. This initiative utilizes genome sequencing technology from Rady Children’s Institute for Genomic Medicine and funding from the foundation to assist children with rare genetic mutations.

Additionally, Dr. She’s foundation collaborated with Creyon Bio, a biotechnology firm that helped develop “Leosen,” a medicine named after her son Leo. These efforts aim to inspire further advancements in treating rare genetic conditions.

Dr. She holds a Bachelor of Science in Mathematics from Northwestern University and a Ph.D. in Mathematics from the University of Chicago. She resides in Setauket, New York, with her husband and two children.



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