How these parents of a child with a rare disease are making precision medicine work for them – the pharmaphorum podcast

by Stephen Riddle

When parents and physicians Drs Zachary and Geri Landman learned that their newborn daughter Lucy had an ultra-rare genetic condition, they were devastated. But while Lucy’s condition, PGAP3-CDG, has no cure or treatment, it’s not necessarily uncureable; in fact, virtually no research has been conducted into the condition at all on account of its rarity.

In today’s pharmaphorum podcast, editor in chief Jonah Comstock invites the Landmans to tell Lucy’s story and the story of their new nonprofit Moonshots for Unicorns, which sets up a framework for parents in their circumstance to directly crowdfund research for rare single-gene disorders – starting with PGAP3.

Lucy’s story shows how the promise of precision medicine doesn’t always line up with the profit motive and economies of scale in the healthcare industry. But there is hope to bridge that gap, drive forward gene therapy research, and help families like the Landmans.

You can listen to episode 59 of the pharmaphorum podcast in the player below, download the episode to your computer or find it – and subscribe to the rest of the series in iTunesSpotifyacastStitcher and Podbean.

This post was originally published on Source Link

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