Mitalipov is a staunch advocate of human genetic editing. There are 100 million people with rare genetic diseases, and he thinks somatic cell editing will help them only so much. “This will not mitigate transmission to the next generation,” he said. “These diseases recur over and over again. If you want to really eradicate them, you have to go back to the germline.” The idea behind somatic cell editing, he says, is “to make them born and then we deal with them.” , the goal of genetic editing is to cure a disease before it manifests, and eventually eradicate the disease entirely. Among other arguments, he points out that gene editing is more effective than later interventions. “It’s one cell versus the whole body,” he said.
Mitalipov studies genes that lead to hypertrophic cardiomyopathy, a heart disease that affects 1 in 5 percent of people and is the leading cause of sudden death in young athletes. In 2017, he published a paper focusing on one of these genes, showing that he had been able to use gene editing technology destroy it without producing off-target edits, and only in limited instances of mosaicism.
The laboratory is divided into spaces designated for research on mouse embryos (equipment is federally funded) and human embryo research (non-federally funded). In the human embryo room, I met Nuria Martí Gutierrez, the lab’s chief embryologist. She had three eggs to fertilize that day, two from a donation program and one discarded by IVF. She prepared a petri dish with three drops of oil under a microscope.For the first one, she added gene editing technology solution. Next, she inserted sperm donated by the hospital’s cardiology department that had a deleterious mutation in the MYH7 gene, one of the causes of hypertrophic cardiomyopathy. In the third drop, she added an oocyte — an egg.
Martí Gutierrez moves the petri dish onto a larger microscope equipped with pipettes steered by a joystick. Using a narrow, angled straw, she taps the sperm on the tail of the sperm, holding it in place so she can suck it into the straw’s chamber.Then she washes the sperm in gene editing technology solution. “Everything is going on inside the oocyte now,” she said. Unknowingly, gene editing technologyand its guide RNA protein, find and cleave MYH7. Within minutes, she had produced two edited human embryos. Over several days, after the cells have divided several times, the lab will sequence each cell’s DNA to check whether the desired edits have occurred in each cell before processing them.
“Would you like to try it?” Mitalipov asked me, then added with a smile: “Don’t tell anyone.”
Martí Gutierrez arranged for me to use discarded IVF eggs, which were less likely to be fertilized properly and therefore less precious for their research. I chase sperm around a petri dish with a joystick: a sex-ed version of a game of tag that I routinely delete from my kids’ phones.When I finally caught one, I dunked it gene editing technology. I switched to the other joystick and manipulated the larger pipette, supporting the egg. Then, I pierced the egg’s membrane with a pipette containing the edited sperm. “Keep going,” Marty Gutierrez said. “Good.” I glanced at the monitor attached to the microscope. What I saw was as familiar as images of Earth seen from space: large eggs beating, restless sperm. The basic life of human beings, and the outermost border.
Mitalipov believes that within a decade there will be legitimate clinical research on genetic editing.Two new technologies, base editing and primary editing, have been developed to improve gene editing technology— not just cutting DNA to disable genes, but chemically rewriting parts of the genetic code, a process that some have likened to the find and replace function in a word processor. David Liu of the Broad Institute of MIT and Harvard, who invented these new technologies, told me, “If progress continues at the current astonishing pace, at some point one might reasonably Ask: ‘Is it immoral to do this?'” no treat? ‘”
Before leaving Portland, I called on Marlo Urbina and Joe Urbina. In 2008, they became parents to twins Max and Sofia. Unbeknownst to Marlowe and Joe, they are both carriers of Batton’s disease, a rare degenerative disease that destroys the central nervous system. The kids are now teenagers. Max is healthy. Sophia has Batton’s disease, for which there is no known cure.
In their backyard, we sat at a picnic table next to a fertile vegetable garden, and they told me about the course of Sophia’s illness. When she was a little girl, they didn’t notice any difference in her. She studied early and took care of her younger brother. “She looked a little awkward and inattentive,” Jo said. “But it wasn’t a big deal at first. You know, it was just a normal kid.” In kindergarten, however, Sofia started losing her eyesight and was diagnosed with the disease. By second grade, she was blind. “They tell you, ‘Go home and make memories, because it’s going to get ugly,'” Marlowe said.
As the disease progressed, Sofia began to change. “Her cognitive abilities were declining and her mood swings were increasing,” Joe said. She had problems with self-regulation and memory loss. She became angry, brooding, and rigid. “They call it juvenile dementia,” Marlowe said. Children with lath rarely survive to adulthood.
Fourteen-year-old Sophia can no longer walk, and she has trouble understanding when she speaks. Her twitching and screaming may last for hours. Max, who maintains a close bond with his twin, has to go into his room and turn on the noise machine to get his homework done. Marlowe said Sophia understood her prognosis. “She knew, and she was heartbroken,” she said. “She’s been saying a lot lately, ‘My eyes, my eyes, my brain, my eyes.’ She knows it’s Barton, that’s why she can’t see, that’s why she can’t stop screaming, that’s her The reason for not being able to walk. She would scream for forty-five minutes, and then she would say, “Sorry, my brain. ’ You know, you just hug her and say, ‘It’s okay baby, it’s not your fault, it’s okay’ and she’s scared.”
When the Urbinas family first heard gene editing technology They hope to one day benefit when Sophia is used in somatic gene therapy. With their hopes dashed, they turned their energies to the future. “Max wasn’t affected, but Max was the carrier,” Marlowe said. “It means he can spread the disease. It’s a horrible disease. It’s like ALS and Alzheimer’s had a baby. I want to see this disease Disappeared“.
She believes gene editing has the potential to eliminate Patton, as well as hundreds of other devastating diseases. “I think most Americans would say we do this science to cure these diseases,” Marlowe said. “To me, the best treatment is to stop the disease from happening in the first place.”
Marlowe estimated that Sophia had two or three more years to live. She told me, “Last night, I was holding her, and she was shaking, and she said, ‘When, when, when?’ You’re tired now, let’s take a break. When your body can’t do it anymore, it’s okay’”