Together We Can Cure Single-Gene Disorders Starting with PGAP3 - Moonshot - An Ambitious and Innovative Project with Geri and Zach Landman

ONCE UPON A GENE - EPISODE 149 Together We Can Cure Single-Gene Disorders Starting with PGAP3 - Moonshot - An Ambitious and Innovative Project with Geri and Zach Landman Zachary and Geri Landman are the parents of Lucy, who was born with PGAP3 during the pandemic. They're brilliant and driven, seeking treatments through their nonprofit, Moonshot for Unicorns.  EPISODE HIGHLIGHTS Can you share a little bit about Lucy? Lucy is our adorable 14 month old daughter, born during the pandemic. Initially she was growing and developing like our two older daughters. When we began introducing food in a baby chair, Lucy would slump over. We weren't too concerned, but our pediatrician later referred us to a neurologist who recommended physical therapy. Lucy later underwent MRIs, a nerve conduction study, EEG to look for seizures and a spinal tap to look for potential infections or neurotransmitter deficiencies. After a final genetic test returned results, we were notified that Lucy had two bad copies of her PGAP3 gene. Because it was an ultra-rare diagnosis, there were no treatments, no therapies and no research around potential clinical trials.  What inspired you to start Moonshot for Unicorns? We didn't want any rare disease parents to go to bed the night of their diagnosis feeling the way we did- that there were no treatments and cures. A week after Lucy was diagnosed, we went into action mode, read every scientific paper available, emailed every author of every paper, learned all the details we could and started making connections with other families. We started Moonshot for Unicorns with a focus on PGAP3, but the goal is to develop therapies for the other single gene disorders that don't currently have treatments. Today, gene therapy is underway for PGAP3 and we're also doing drug repurposing work.  What has been your experience with drug repurposing so far? The labs are independent companies, some academic and some for profit, and you put your experiment in the queue and they give you a cost and timelines, which can vary and stretch out over months. We were told it could be up to 9 months until the lab would get to our experiment, so we started exploring the idea of a pop up lab. Going this route has given us a hands-on ability, we get regular updates and the possibilities are endless. LINKS & RESOURCES MENTIONED Moonshots for Unicorns https://www.moonshotsforunicorns.org/ @lucythepgap3goose on Instagram https://www.instagram.com/lucythepgap3goose/ Little Zebra Fund https://littlezebrafund.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Once Upon a Gene TV https://www.thedisordercollection.com/

Fecha de Publicación: 25 de agosto de 2022

Duración: 42 min