Lucy Landman is one of only a few children known worldwide to have a genetic disorder called PGAP3, in which a single missing gene can cause seizures and severe physical and cognitive limitations. Luckily for Lucy, her parents Geri and Zach Landman are both physicians whose expertise has been a big help in obtaining a diagnosis and in advocating for her. The Landmans are bringing that know-how and a fervent desire to help all children with single gene disorders to the non-profit they founded, Moonshots for Unicorns, which is already working with Nationwide Children’s Hospital on a promising gene therapy.  “There are so many of these single gene disorders that should be amenable to things like gene therapy and drug repurposing. So, we don't want this just to focus on PGAP3.” Listen to this moving episode with host Michael Carrese to learn what causes PGAP3, how the rare genetic disorder has impacted Lucy’s life and health, and the suspected connection between PGAP3 and Autism. Dr. Landman also addresses the big gaps she sees in newborn screening, medical education and research efforts from a rare disease perspective.

Mentioned in this episode: www.moonshotsforunicorns.org

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