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

[Jilly_in_VA]

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.

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

I can hear health insurers in the US now....

[I_UndergroundPanther]

1. This is why we need universal healthcare

Once profit and middlemen are eliminated those kinds of treatments have a chance of helping all of us.

I hope the crisper can help restore my pancreas.

Diabeties would be eliminated if the crisper works.

Think of how much money that would save.

[intrepidity]

2. Systemic administration--a game changer

Since learning of CRISPR, I've wondered about systemic delivery, and this is the first study, apparently, showing it works. That changes everything! Fantastic news.

"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.

[multigraincracker]

3. Thanks, I missed that.

I already have a pacemaker, numb feet and glaucoma. Still jogged 3 miles and then walked 3 miles yesterday.