Technically it’s “gene transfer” until evidence shows that it works. Gene therapy introduces working copies of a gene that is absent or malfunctioning in a disease, usually aboard a virus or encased in fatty bubbles. But social media are ephemeral, and the amount raised isn’t enough, yet. Thanks to a video ( Saving Eliza) that went viral in April and the media appearances that followed, donations are coming in. The families need to raise about $2.5 million, and soon. Racing against a rapid killer must go beyond golf tournaments and bake sales, road races and dances, and other classic fundraising routes that work when one has more time. They and other Sanfilippo families are desperately trying to fund the making of the medicine that is gene therapy. Still, Eliza’s parents, Cara and Glenn, didn’t have to start from scratch like the Sames’ and the Salzman sisters. Creating, selecting, and scaling up the viral vector that delivers the healing genes is expensive. (Their beautiful daughter Hannah, now 10, graces the cover of the new edition of my human genetics textbook, not for the neural destruction of GAN, but for her unusually kinky curls, also part of the phenotype.)Įxquisite little Eliza represents a third group: a gene therapy clinical trial nearly ready to go that runs out of money. And the soon-to-start gene therapy clinical trial for GAN is largely possible thanks to the Herculean efforts of Lori and Matt Sames. For ALD it’s a pioneering trio of sisters (Amber Salzman, Rachel Salzman, and Eve Lapin). The families are a key part of many gene therapy advances. The many more unlucky are the parents who receive a deadly diagnosis and then discover that no one is pursuing treatment. The lucky, like Corey, found gene therapy because a physician knew about a clinical trial, and they fit the criteria. I recently realized, though, after learning of 4-year-old Eliza O’Neill’s future with Sanfilippo syndrome, that The Forever Fix only touched on two types of experiences. It’s finally happening.Ĭorey Haas, who had gene therapy to treat Leber congenital amaurosis type 2, would never be able to fish in the Hudson near his home had he not had gene therapy. Sandwiching those cases is the experience of Corey Haas, who would surely be blind if not for gene therapy in 2008, when he was 8.īut I could have told, instead, other ongoing stories of the evolving gene therapy - hemophilia B, battling Batten disease, Wiskott-Aldrich syndrome, metachromatic leukodystrophy, cancers or HIV … I cover some of them here at DNA Science, and at Medscape Medical News, as the successes accrue. The cancer hadn’t happened in the mice used to clear the gene transfer protocol for clinical trials.Īfter revisiting the tragedies, my book The Forever Fix: Gene Therapy and the Boy Who Saved It introduces adrenoleukodystrophy (ALD) to showcase family activism, giant axonal neuropathy (GAN) to tell what it takes to get a gene therapy clinical trial up and running, and then Canavan disease to see what happens years after gene therapy. The narrative would tell of the dual tragedies that until recently defined the field: 18-year-old Jesse Gelsinger, whose immune system lethally rejected treatment for a urea cycle disorder in 1999, and then the young boys who, shortly after, developed leukemia following successful treatment of their inherited immune deficiency. If ten science writers were asked to write a book about gene therapy, a biotechnology with roots going back to the 1950s, they could tell ten different stories.Īny account of gene therapy would include the first experiment in humans, on a 4-year-old in 1990.
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