He Wants to Eliminate Inherited Diseases in Embryos. Congress Just Said No (Again).
Kira Peikoff was the editor-in-chief of Leaps.org from 2017 to 2021. As a journalist, her work has appeared in The New York Times, Newsweek, Nautilus, Popular Mechanics, The New York Academy of Sciences, and other outlets. She is also the author of four suspense novels that explore controversial issues arising from scientific innovation: Living Proof, No Time to Die, Die Again Tomorrow, and Mother Knows Best. Peikoff holds a B.A. in Journalism from New York University and an M.S. in Bioethics from Columbia University. She lives in New Jersey with her husband and two young sons. Follow her on Twitter @KiraPeikoff.
Biologist Shoukhrat Mitalipov is famous—and controversial--in the world of cutting-edge fertility treatments. A decade ago, he pioneered mitochondrial replacement therapy, paving the way for the world's first "three-parent" babies to be born free of a devastating inherited disease.
He sees his work toward embryo gene therapy as not only moral, but necessary.
In 2017, he shocked the world again when his group at Oregon Health and Science University became the first to repair a genetic mutation causing heart disease in dozens of human embryos. The embryos were later destroyed a part of the experiment; current policy in the U.S. prohibits such research from moving into clinical trials.
And that policy doesn't look like it's going to change anytime soon, despite recent political wavering. Last month, a House subcommittee dropped the ban that has blocked the Food and Drug Administration since 2015 from considering any clinical trials of genetically altered embryos intended to create a baby. The move raised the hopes of supporters who want to see such research move forward and angered critics who feel that the science is getting ahead of the ethics. But yesterday, a House committee decided to restore the ban on gene-edited babies after all.
As for Mitalipov, he told leapsmag that he sees his work toward embryo gene therapy as not only moral, but necessary. This interview has been edited and condensed for clarity.
What motivates you to pursue this line of research, even though it is highly controversial?
It's my expertise, I'm an embryologist. We study early development in humans -- sperm, egg, and the first five days of development -- and try to use our knowledge to treat human diseases, particularly in that early stage. This is how IVF started, as a treatment for infertility. It's a very successful cell therapy treatment, with millions of children born. [Now the idea is] to actually to use this IVF platform not as much to treat infertility, but also to treat heritable genetic diseases, because this is a very important stage when gametes from either dad or mom will transmit mutations. This is the bottleneck where we could actually interfere and repair that mutation.
Many people are hesitant to support embryo editing because of "designer babies," yet polls do show that Americans are more open to embryo editing for the purpose of disease prevention. Where should society draw a line?
Yeah, I agree with most Americans that we don't have to edit -- meaning you could make all kind of changes. Instead we do gene repair, which is a therapeutic application.
Gene repair is quite different than gene editing. It involves [focusing on] already known disease-causing mutations and how we can turn them back to normal.
Thousands of gene mutations cause human diseases, like Crohn's, for example, or mutations causing cancer, heart disease. These are well-described, well-studied cause-and-effect diseases and we need to do something about it because otherwise it's impossible to treat once the mutation is already passed to a child.
Early intervention is the best in any disease, but in genetics, "early" means you have to do it at the time of fertilization. That's when we are dealing with one copy of the mutation or maybe two, versus when you have a whole body with billions of cells in solid tissues that we cannot really access and target. So this is the most efficient way of preventing thousands and thousands of genetic diseases. I understand that we have to make sure that it's very safe, of course, and efficient as well. But at the same time, I think this is the future. We have to work toward developing these technologies.
"If we continue banning the research everywhere and not funding it, maybe 100 years will not be enough."
What's your opinion of Dr. He Jiankui and the Chinese CRISPR'ed babies?
This is a case where he was doing gene editing, not gene repair. He hasn't corrected anything, he induced a mutation to normal human genes, hoping that this would somehow confer resistance to HIV, which is still unclear.
I think such straightforward editing is unacceptable specifically for human embryos. He's approach has also never been tested in an animal model. That's why the reaction from the public and scientists was very negative, because this is the case where the doctor does this without any expertise in this area, without knowing probably much about what he is doing, and he acquired it without any oversights, which is troubling. And of course, it negatively affects the legitimate research that is going on in some labs.
What might the future of embryo gene therapy look like?
Hopefully in 10 years from now, thousands and thousands of families that know they carry germline mutations…could go through IVF and we would correct it, and they could have healthy children.
Right now, we have some tools. We cannot correct, but we can select. So what happens is the parents become pregnant and then at about three months along, we can biopsy the amniotic fluid and say, "Hey unfortunately you passed on this mutation." And that means this child, if it's born, will be affected, so we give parents a choice of terminating the pregnancy.
Or we could do it much earlier, so parents go to the IVF clinic where we retrieve about ten eggs, after stimulating a woman's ovaries. Each of them will be fertilized so we have ten embryos that develop. We have a five-day window where we can keep them in the lab. And we basically reap a few cells, we do a biopsy from each of these ten, and we say, "Hey embryo number 1 and number 4 are not mutant, but the others are."
Then we can take these two and the other eight usually will be thrown away. That's the technology that we have now. Some ethicists argue on religious grounds that we have this selection technology available, so why do we need germline gene therapy [i.e. repairing the disease-causing mutations in an embryo]?
I don't understand the moral argument there, because all the available technology is based on selective destruction of the embryo.
With [IVF gene therapy], we will take ten embryos and every embryo we'll make healthy because we can get rid of the mutations. How could embryo destruction be morally superior?
How long do you think it will take for this technology to be available to prospective parents?
It depends how many legitimate labs with expertise can get into this field and resolve all the scientific questions. If we continue banning the research everywhere and not funding it, maybe 100 years will not be enough.
So far, I think that my lab is the only one legitimately working on it. But we would like five, 10, maybe 100 labs in this country and Europe really working. Because we have scientific challenges that we need to resolve before we could say, "Hey now we know how to correct [a given mutation] and now this could be efficient, and there are no side effects or very little." And then we could say, "Okay, I think we've done everything we could in petri dishes and in animals, and now we are ready to transplant this embryo in a patient and see what happens."
"There's just no way you could sink your head into the sand and say, 'Oh, we just ban it and then hopefully everything will go away.'"
Does banning emerging technology actually work?
Banning it usually means it will leak out to a gray area where there's no regulation and many private IVF clinics will just use it while it is still premature. So I think we have to regulate the clinical testing. There's just no way you could sink your head into the sand and say, "Oh, we just ban it and then hopefully everything will go away." That's not going to happen.
If this technology does become feasible and legal in the future, do you think that more and more couples will choose IVF and gene therapy versus the natural method of rolling the dice?
As sequencing technology is becoming available, like 23andMe, more and more parents will realize what kind of mutations they carry. And if your spouse carries the same mutation on the same locus, now you have very high chance of transmitting it. Most of the time today, we find out these families carry it once they have one or two children with that condition.
Of course, parents can just do it naturally in the bedroom and have a chance of transmitting or not transmitting mutations, but hopefully eventually we can say, "Hey, because of your condition, you don't want to play this Russian Roulette. Let's just do IVF." And hopefully the government will cover that kind of treatment because right now IVF is not covered in most states. And we do this therapy and then they have a healthy child.
We have 10,000 different mutations in the human population. That means probably billions of people carry mutations. And unless they go through this gene therapy through IVF, they will keep transmitting them. And we're going to keep having millions and millions of children with diseases. We have to do something about it.
Kira Peikoff was the editor-in-chief of Leaps.org from 2017 to 2021. As a journalist, her work has appeared in The New York Times, Newsweek, Nautilus, Popular Mechanics, The New York Academy of Sciences, and other outlets. She is also the author of four suspense novels that explore controversial issues arising from scientific innovation: Living Proof, No Time to Die, Die Again Tomorrow, and Mother Knows Best. Peikoff holds a B.A. in Journalism from New York University and an M.S. in Bioethics from Columbia University. She lives in New Jersey with her husband and two young sons. Follow her on Twitter @KiraPeikoff.
This man spent over 70 years in an iron lung. What he was able to accomplish is amazing.
It’s a sight we don’t normally see these days: A man lying prone in a big, metal tube with his head sticking out of one end. But it wasn’t so long ago that this sight was unfortunately much more common.
In the first half of the 20th century, tens of thousands of people each year were infected by polio—a highly contagious virus that attacks nerves in the spinal cord and brainstem. Many people survived polio, but a small percentage of people who did were left permanently paralyzed from the virus, requiring support to help them breathe. This support, known as an “iron lung,” manually pulled oxygen in and out of a person’s lungs by changing the pressure inside the machine.
Paul Alexander was one of several thousand who were infected and paralyzed by polio in 1952. That year, a polio epidemic swept the United States, forcing businesses to close and polio wards in hospitals all over the country to fill up with sick children. When Paul caught polio in the summer of 1952, doctors urged his parents to let him rest and recover at home, since the hospital in his home suburb of Dallas, Texas was already overrun with polio patients.
Paul rested in bed for a few days with aching limbs and a fever. But his condition quickly got worse. Within a week, Paul could no longer speak or swallow, and his parents rushed him to the local hospital where the doctors performed an emergency procedure to help him breathe. Paul woke from the surgery three days later, and found himself unable to move and lying inside an iron lung in the polio ward, surrounded by rows of other paralyzed children.
Hospitals were commonly filled with polio patients who had been paralyzed by the virus before a vaccine became widely available in 1955. Associated Press
Paul struggled inside the polio ward for the next 18 months, bored and restless and needing to hold his breath when the nurses opened the iron lung to help him bathe. The doctors on the ward frequently told his parents that Paul was going to die.But against all odds, Paul lived. And with help from a physical therapist, Paul was able to thrive—sometimes for small periods outside the iron lung.
The way Paul did this was to practice glossopharyngeal breathing (or as Paul called it, “frog breathing”), where he would trap air in his mouth and force it down his throat and into his lungs by flattening his tongue. This breathing technique, taught to him by his physical therapist, would allow Paul to leave the iron lung for increasing periods of time.
With help from his iron lung (and for small periods of time without it), Paul managed to live a full, happy, and sometimes record-breaking life. At 21, Paul became the first person in Dallas, Texas to graduate high school without attending class in person, owing his success to memorization rather than taking notes. After high school, Paul received a scholarship to Southern Methodist University and pursued his dream of becoming a trial lawyer and successfully represented clients in court.
Paul Alexander, pictured here in his early 20s, mastered a type of breathing technique that allowed him to spend short amounts of time outside his iron lung. Paul Alexander
Paul practiced law in North Texas for more than 30 years, using a modified wheelchair that held his body upright. During his career, Paul even represented members of the biker gang Hells Angels—and became so close with them he was named an honorary member.Throughout his long life, Paul was also able to fly on a plane, visit the beach, adopt a dog, fall in love, and write a memoir using a plastic stick to tap out a draft on a keyboard. In recent years, Paul joined TikTok and became a viral sensation with more than 330,000 followers. In one of his first videos, Paul advocated for vaccination and warned against another polio epidemic.
Paul was reportedly hospitalized with COVID-19 at the end of February and died on March 11th, 2024. He currently holds the Guiness World Record for longest survival inside an iron lung—71 years.
Polio thankfully no longer circulates in the United States, or in most of the world, thanks to vaccines. But Paul continues to serve as a reminder of the importance of vaccination—and the power of the human spirit.
““I’ve got some big dreams. I’m not going to accept from anybody their limitations,” he said in a 2022 interview with CNN. “My life is incredible.”
When doctors couldn’t stop her daughter’s seizures, this mom earned a PhD and found a treatment herself.
Twenty-eight years ago, Tracy Dixon-Salazaar woke to the sound of her daughter, two-year-old Savannah, in the midst of a medical emergency.
“I entered [Savannah’s room] to see her tiny little body jerking about violently in her bed,” Tracy said in an interview. “I thought she was choking.” When she and her husband frantically called 911, the paramedic told them it was likely that Savannah had had a seizure—a term neither Tracy nor her husband had ever heard before.
Over the next several years, Savannah’s seizures continued and worsened. By age five Savannah was having seizures dozens of times each day, and her parents noticed significant developmental delays. Savannah was unable to use the restroom and functioned more like a toddler than a five-year-old.
Doctors were mystified: Tracy and her husband had no family history of seizures, and there was no event—such as an injury or infection—that could have caused them. Doctors were also confused as to why Savannah’s seizures were happening so frequently despite trying different seizure medications.
Doctors eventually diagnosed Savannah with Lennox-Gaustaut Syndrome, or LGS, an epilepsy disorder with no cure and a poor prognosis. People with LGS are often resistant to several kinds of anti-seizure medications, and often suffer from developmental delays and behavioral problems. People with LGS also have a higher chance of injury as well as a higher chance of sudden unexpected death (SUDEP) due to the frequent seizures. In about 70 percent of cases, LGS has an identifiable cause such as a brain injury or genetic syndrome. In about 30 percent of cases, however, the cause is unknown.
Watching her daughter struggle through repeated seizures was devastating to Tracy and the rest of the family.
“This disease, it comes into your life. It’s uninvited. It’s unannounced and it takes over every aspect of your daily life,” said Tracy in an interview with Today.com. “Plus it’s attacking the thing that is most precious to you—your kid.”
Desperate to find some answers, Tracy began combing the medical literature for information about epilepsy and LGS. She enrolled in college courses to better understand the papers she was reading.
“Ironically, I thought I needed to go to college to take English classes to understand these papers—but soon learned it wasn’t English classes I needed, It was science,” Tracy said. When she took her first college science course, Tracy says, she “fell in love with the subject.”
Tracy was now a caregiver to Savannah, who continued to have hundreds of seizures a month, as well as a full-time student, studying late into the night and while her kids were at school, using classwork as “an outlet for the pain.”
“I couldn’t help my daughter,” Tracy said. “Studying was something I could do.”
Twelve years later, Tracy had earned a PhD in neurobiology.
After her post-doctoral training, Tracy started working at a lab that explored the genetics of epilepsy. Savannah’s doctors hadn’t found a genetic cause for her seizures, so Tracy decided to sequence her genome again to check for other abnormalities—and what she found was life-changing.
Tracy discovered that Savannah had a calcium channel mutation, meaning that too much calcium was passing through Savannah’s neural pathways, leading to seizures. The information made sense to Tracy: Anti-seizure medications often leech calcium from a person’s bones. When doctors had prescribed Savannah calcium supplements in the past to counteract these effects, her seizures had gotten worse every time she took the medication. Tracy took her discovery to Savannah’s doctor, who agreed to prescribe her a calcium blocker.
The change in Savannah was almost immediate.
Within two weeks, Savannah’s seizures had decreased by 95 percent. Once on a daily seven-drug regimen, she was soon weaned to just four, and then three. Amazingly, Tracy started to notice changes in Savannah’s personality and development, too.
“She just exploded in her personality and her talking and her walking and her potty training and oh my gosh she is just so sassy,” Tracy said in an interview.
Since starting the calcium blocker eleven years ago, Savannah has continued to make enormous strides. Though still unable to read or write, Savannah enjoys puzzles and social media. She’s “obsessed” with boys, says Tracy. And while Tracy suspects she’ll never be able to live independently, she and her daughter can now share more “normal” moments—something she never anticipated at the start of Savannah’s journey with LGS. While preparing for an event, Savannah helped Tracy get ready.
“We picked out a dress and it was the first time in our lives that we did something normal as a mother and a daughter,” she said. “It was pretty cool.”