Gene therapy gave vision to Corey Haas. (photo: Dr. Wendy Josephs)
Chicago – I left fruit fly research circa 1982, shortly after earning my PhD in genetics, because I didn’t think insects with legs growing out of their heads was of much import to human health.
Although I went on to a rewarding career as a writer, I quickly learned that I was wrong about the noble fly Drosophila melanogaster, as one by one, the genes I studied found counterparts in humans. And then when the fly genome was sequenced and compared to our own, the correspondence was startling: thousands of our genes, clearly more than half of our 20,400, were already in existence in the fly, and presumably other species’ genomes, long before we appeared on the scene a mere flicker of evolutionary time ago. Homophila is a database of fly-human gene matches.
Returning to my roots, here I am at the 53rd annual Drosophila Research Conference. When I attended as a graduate student in the late 1970s, there were maybe 200 people; now there are 1500+. I’m here to write news releases, which means I’m on the prowl for research pertaining to people.
I had my doubts.
So yesterday, I set about to explore the 900 posters, often the best place for a journalist to find new and exciting research. I was 7 posters in when an acronym shouted out at me: CRB1.
CRB1 is a gene that, when mutant in people, causes a form of Leber congenital amaurosis, which causes blindness. LCA is the very subject of my book The Forever Fix: Gene Therapy and the Boy Who Saved It, to be published March 13, a few days away. My book tells the history of gene therapy through the eyes of 8-year-old Corey Haas, who became able to see four days after undergoing gene therapy, in 2008. His vision isn’t a miracle, but the culmination of two decades of genetics research, beginning not with children, but with sheepdogs.
I was simply stunned.
As I pictured the kids I’d met with the CRB1 form of LCA, a different form from Corey’s, I read Milena Pellikka’s poster, as she told me the story that her experiments in the lab of Ulrich Tepass at the University of Toronto told.
Yes, a fly has shimmering facets while we have two multilayered eyeballs, Jeff Goldblum as The Fly notwithstanding, but at the molecular level, photoreception is photoreception. And Dr. Pellikka’s elegant work showed exactly how the visual pigment rhodopsin is pushed aside in the mutant flies, who also cannot see.
Perhaps I needed all these years of writing about human genetics to suddenly appreciate the little fruit fly that has been so important to my field since, more than a century ago, Thomas Hunt Morgan and his students in the “fly room” at Columbia University first teased trait variants from the animals, igniting the explosion that today is drawing 1500 mostly-young scientists to Chicago.
With their short lifespans and the amazing tools developed since I was a grad student, flies have emerged as a great model of human disease. And I’ve noticed that they’ve happily remained under the radar of People for the Ethical Treatment of Animals, who don’t seem to care about the mass-murders of flies. About the closest animal I could find on their mammal-dominated website was a lone lobster. Being at the fly meetings reminded me that I, personally, am responsible for drowning (in college) or gassing (in grad school) gazillions of flies.
So why is fly research important? In addition to revealing how animal biology works, it leads to treatments for human diseases. More specifically, said Dr. Pellikka, “Using this model organism allows us to study the mechanism by which mutations affect the photoreceptor cells.” And that’s the start of a gene therapy that can bring sight to a child genetically destined for blindness, like Corey Haas.
Although I went on to a rewarding career as a writer, I quickly learned that I was wrong about the noble fly Drosophila melanogaster, as one by one, the genes I studied found counterparts in humans. And then when the fly genome was sequenced and compared to our own, the correspondence was startling: thousands of our genes, clearly more than half of our 20,400, were already in existence in the fly, and presumably other species’ genomes, long before we appeared on the scene a mere flicker of evolutionary time ago. Homophila is a database of fly-human gene matches.
Returning to my roots, here I am at the 53rd annual Drosophila Research Conference. When I attended as a graduate student in the late 1970s, there were maybe 200 people; now there are 1500+. I’m here to write news releases, which means I’m on the prowl for research pertaining to people.
I had my doubts.
So yesterday, I set about to explore the 900 posters, often the best place for a journalist to find new and exciting research. I was 7 posters in when an acronym shouted out at me: CRB1.
CRB1 is a gene that, when mutant in people, causes a form of Leber congenital amaurosis, which causes blindness. LCA is the very subject of my book The Forever Fix: Gene Therapy and the Boy Who Saved It, to be published March 13, a few days away. My book tells the history of gene therapy through the eyes of 8-year-old Corey Haas, who became able to see four days after undergoing gene therapy, in 2008. His vision isn’t a miracle, but the culmination of two decades of genetics research, beginning not with children, but with sheepdogs.
I was simply stunned.
As I pictured the kids I’d met with the CRB1 form of LCA, a different form from Corey’s, I read Milena Pellikka’s poster, as she told me the story that her experiments in the lab of Ulrich Tepass at the University of Toronto told.
Yes, a fly has shimmering facets while we have two multilayered eyeballs, Jeff Goldblum as The Fly notwithstanding, but at the molecular level, photoreception is photoreception. And Dr. Pellikka’s elegant work showed exactly how the visual pigment rhodopsin is pushed aside in the mutant flies, who also cannot see.
Perhaps I needed all these years of writing about human genetics to suddenly appreciate the little fruit fly that has been so important to my field since, more than a century ago, Thomas Hunt Morgan and his students in the “fly room” at Columbia University first teased trait variants from the animals, igniting the explosion that today is drawing 1500 mostly-young scientists to Chicago.
With their short lifespans and the amazing tools developed since I was a grad student, flies have emerged as a great model of human disease. And I’ve noticed that they’ve happily remained under the radar of People for the Ethical Treatment of Animals, who don’t seem to care about the mass-murders of flies. About the closest animal I could find on their mammal-dominated website was a lone lobster. Being at the fly meetings reminded me that I, personally, am responsible for drowning (in college) or gassing (in grad school) gazillions of flies.
So why is fly research important? In addition to revealing how animal biology works, it leads to treatments for human diseases. More specifically, said Dr. Pellikka, “Using this model organism allows us to study the mechanism by which mutations affect the photoreceptor cells.” And that’s the start of a gene therapy that can bring sight to a child genetically destined for blindness, like Corey Haas.