https://www.npr.org/sections/health-shots/2021/06/26/1009817539/he-inherited-a-devastating-disease-a-crispr-gene-editing-breakthrough-stopped-it

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CRISPR Gene-Editing Breakthrough Opens Door To Treating Broad Array
Of Diseases : Shots - Health News Scientists successfully treated a
rare disease with the experimental gene-editing technique. It could
open the door to new ways of treating more common disorders in the
future.
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Treatments

He Inherited A Devastating Disease. A CRISPR Gene-Editing
Breakthrough Stopped It

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June 26, 202111:15 AM ET
Heard on All Things Considered
Rob Stein, photographed for NPR, 22 January 2020, in Washington DC.

Rob Stein

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He Inherited A Devastating Disease. A CRISPR Gene-Editing
Breakthrough Stopped It

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[Doherty_CR]
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Patrick Doherty volunteered for a new medical intervention of
gene-editor infusions for the treatment of genetically-based
diseases. Patrick Doherty hide caption

toggle caption
Patrick Doherty

Patrick Doherty volunteered for a new medical intervention of
gene-editor infusions for the treatment of genetically-based
diseases.

Patrick Doherty

Patrick Doherty had always been very active. He trekked the Himalayas
and hiked trails in Spain.

But about a year and a half ago, he noticed pins and needles in his
fingers and toes. His feet got cold. And then he started getting out
of breath any time he walked his dog up the hills of County Donegal
in Ireland where he lives.

"I noticed on some of the larger hill climbs I was getting a bit
breathless," says Doherty, 65. "So I realized something was wrong."

Doherty found out he had a rare, but devastating inherited disease --
known as transthyretin amyloidosis -- that had killed his father. A
misshapen protein was building up in his body, destroying important
tissues, such as nerves in his hands and feet and his heart.

Doherty had watched others get crippled and die difficult deaths from
amyloidosis.

"It's terrible prognosis," Doherty says. "This is a condition that
deteriorates very rapidly. It's just dreadful."

So Doherty was thrilled when he found out that doctors were testing a
new way to try to treat amyloidosis. The approach used a
revolutionary gene-editing technique called CRISPR, which allows
scientists to make very precise changes in DNA.

"I thought: Fantastic. I jumped at the opportunity," Doherty says.

On Saturday, researchers reported the first data indicating that the
experimental treatment worked, causing levels of the destructive
protein to plummet in Doherty's body and the bodies of five other
patients treated with the approach.

"I feel fantastic," Doherty says. "It's just phenomenal."

The advance is being hailed not just for amyloidosis patients but
also as a proof-of-concept that CRISPR could be used to treat many
other, much more common diseases. It's a new way of using the
innovative technology.

"This is a major milestone for patients," says Jennifer Doudna of the
University of California, Berkeley, who shared a Nobel Prize for her
work helping develop CRISPR.

"While these are early data, they show us that we can overcome one of
the biggest challenges with applying CRISPR clinically so far, which
is being able to deliver it systemically and get it to the right
place," Doudna says.

CRISPR has already been shown to help patients suffering from the
devastating blood disorders sickle cell disease and beta thalassemia.
And doctors are trying to use it to treat cancer and to restore
vision to people blinded by a rare genetic disorder.

But those experiments involve taking cells out of the body, editing
them in the lab, and infusing them back in or injecting CRISPR
directly into cells that need fixing.

The study Doherty volunteered for is the first in which doctors are
simply infusing the gene-editor directly into patients and letting it
find its own way to the right gene in the right cells. In this case,
it's cells in the liver making the destructive protein.

"This is the first example in which CRISPR-Cas9 is injected directly
into the bloodstream -- in other words systemic administration -- where
we use it as a way to reach a tissue that's far away from the site of
injection and very specifically use it to edit disease-causing
genes," says John Leonard, the CEO of Intellia Therapeutics, which is
sponsoring the study.

Doctors infused billions of microscopic structures known as
nanoparticles carrying genetic instructions for the CRISPR
gene-editor into four patients in London and two in New Zealand. The
nanoparticles were absorbed by their livers, where they unleashed
armies of CRISPR gene-editors. The CRISPR editor honed in on the
target gene in the liver and sliced it, disabling production of the
destructive protein.

Within weeks, the levels of protein causing the disease plummeted.
Researchers reported at the Peripheral Nerve Society Annual Meeting
and in a paper published in The New England Journal of Medicine.

"It really is exciting," says Dr. Julian Gillmore, who is leading the
study at the University College London, Royal Free Hospital.

"This has the potential to completely revolutionize the outcome for
these patients who have lived with this disease in their family for
many generations. It's decimated some families that I've been looking
after. So this is amazing," Gillmore says.

The patients will have to be followed longer, and more patients will
have to be treated, to make sure the treatment's safe, and determine
how much it's helping, Gillmore stresses. But the approach could help
those struck by amyloidosis that isn't inherited, which is a far more
common version of the disease, he says.

Moreover, the promising results potentially open the door for using
the same approach to treatment of many other, more common diseases
for which taking cells out of the body or directly injecting CRISPR
isn't realistic, including heart disease, muscular dystrophy and
brain diseases such as Alzheimer's.

"This is really opening a new era as we think about gene-editing
where we can begin to think about accessing all kinds of different
tissue in the body via systemic administration," Leonard says.

Other scientists who are not involved in the research agree.

"This is a wonderful day for the future of gene-editing as a
medicine,"
agree Fyodor Urnov, a professor of genetics at the University of
California, Berkeley. "We as a species are watching this remarkable
new show called: our gene-edited future."

Doherty says he started feeling better within weeks of the treatment
and has continued to improve in the weeks since then.

"I definitely feel better," he told NPR. "I'm speaking to you from
upstairs in our house. I climbed stairs to get up here. I would have
been feeling breathless. I'm thrilled."

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