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Altering the Human Genome, Changing Local Lives

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WASHINGTON, NJ - 10 year old Jackson Kennedy has a vision for his future.

"I want to be the first person to Mars."

But without a first of its kind prescription product, the Warren County boy’s dream would have been nearly impossible.

"He watched some kind of documentary or educational video that said astronauts have to have 20/20 vision," explains Jackson's mom, Mary Ann Higgins, "And so that pretty much---he knew he dream was pretty far-fetched at that point. He was running into walls, he would trip over things. I mean, if it wasn’t directly in his line of vision and it wasn’t a brightly lit room or area, he’d run right into it."

It wasn’t until 2018, when the Washington, New Jersey boy who was born with Leber’s Congenital Amaurosis (LCA) \ RPE65, was administered the first FDA approved gene therapy product, Luxturna, that his eyes opened to a world of new possibilities.

Today "his distance vision is 20/80," says Mary Ann, "Before, it was 20/1,000. Yeah, so it’s a huge difference."

"I couldn’t really play outside after it was dark and like I couldn’t walk around in a dark room--otherwise I’d trip over something," Jackson says, "I can pretty much see a lot more than I could before. It wouldn’t just be shadows. I can actually see like colors and all that stuff."

Luxturna is a one-time gene therapy administered to each eye and is used to treat genetic disease that causes blindness. By providing a working RPE65 gene to a patient in place of the same mutated gene, cells in the retina of the eye can begin to produce functioning protein; making the visual cycle work properly. It’s one form of gene-based therapy that is changing the way doctors treat genetically based diseases and disorders.

Now at Penn Medicine, a similar technique is being used to edit cancer patients’ immune cells. It’s called CRISPR/Cas9 genetic editing. But unlike gene therapy, it inserts, removes, changes or replaces specific pieces of a person’s existing DNA.

"It’s a laboratory technique where we can directly take out genes that we think might be important to enhancing the function of these cells," explains the study's principal investigator Edward A. Stadtmauer, "We’ve learned that much of the problems in medicine are genetic and the more we can manipulate the genes, safely, and that’s the key, the more potential there is to help people with many different diseases."

Researchers from the Abramson Cancer Center of the University of Pennsylvania have infused three participants in a new trial so far; two with multiple myeloma and one with sarcoma.

"The patients that we have treated with these CRISPR engineered T-cells are patients that really had no other options," Stadtmauer tells PBS39 News Tonight Reporter, K.C. Lopez, "What we found was the cells grew beautifully, in the patients, that they persisted for even a year later, we have patients that still have these cells in their system and that it was safe. There’s only three patients though, that we’ve treated so we’re still trying to figure out how effective it is."

While the efforts here are being geared towards improving the effectiveness of gene therapies, not editing a patient’s DNA, CRISPR-editing can do just that. And that type of capability has lead to a unique debate; even if we can alter a person’s DNA, should we?

"There’s the potential to use CRISPR in a very sloppy way," warns Associate Professor of Medicine and author of, "The CRISPR Generation; The Story of the World's First Gene-Edited Babies," Kiran Musunuru, MD, PhD, "If you’re using it in cells in a person, there’s the potential to cause genetic damage or almost genetic vandalism to make changes that you don’t intend to make elsewhere in the genome, elsewhere in the 6.4 billion letters and that could cause--actually cause diseases like cancer and heart disease; the things you’re trying to prevent."

As of 2014, about 40 countries discouraged or banned research on germline editing because of ethical and safety concerns. These types of edits would affect all cells in an organism and is passed onto future generations. In the U.S., gene modification is restricted. The FDA regulates clinical studies. But germline editing fears were realized overseas when a Chinese scientist announced that twin girls had been born resistant to HIV thanks to modified DNA created with CRISPR technologies.

"When I first learned about it, I was horrified," says Musunuru, "I was aghast that somebody would actually go ahead and do this. There had been a lot of discussion already in the scientific community about how there needed to be caution, how things needed to be done responsibly. How you had to make sure that it was safe by doing a lot of research. So to go ahead and start putting it into human embryos and unborn children who didn’t actually have any huge or serious health concerns, that’s really jumping the gun."

Today, CRISPR kits are easily available and sold online. Helping some make unique and usable organisms in a lab or at home, allowing others to toy with creating bioluminescent bacteria, even genetically modifying animals.

"Once you start about people using this on themselves, injecting themselves," Musunuru tells Lopez, "Or even injecting others with this technology from these kits that are sold online, these are not rated for medical use, these are not appropriate for use in human beings."

But for families who have watched their own struggle with genetic diseases and disorders, after genetic alteration, they’re not looking back.

"We just kind of, literally, handed our child to them. Which is scary in itself but we had so much faith and so much trust in them that they were the experts and they knew what they were doing," says Jackson's stepdad, Dirk Higgins, "And I think the results exceeded our expectations."

"They exceeded our expectations," says Mary Ann, "And actually, they’ve exceeded the doctor’s expectations."

And for others living with life-threatening disorders like sickle cell disease, HIV or muscular dystrophy, this technology offers a window into the possibility for not only treating, but curing, 6 thousand other human genetic diseases that at this point in time, lack any kind of treatment.

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