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Arthur T Knackerbracket has found the following story:
In a world first, CRISPR, the powerful gene-editing tool that can cut and paste DNA, has been used inside the human body for the first time. Scientists at the Casey Eye Institute at Oregon Health & Science University, Portland, have administered a new CRISPR-based medicine to treat an inherited form of blindness, according to the two biotech companies which make the treatment.
"This dosing is a truly historic event -- for science, for medicine, and most importantly for people living with this eye disease," said Cynthia Collins, president and CEO of Editas Medicine, a gene-editing company headquartered in Massachusetts.
The first patient in the trial received a dose of the experimental drug, called AGN-151587, via an injection in the eye. The idea is that it delivers the gene-editing tool CRISPR directly to cells in the eye which are affected by the genetic disease. CRISPR is able to find its way into those cells and correct the gene -- a cut-and-paste scenario that sees a tiny DNA edit made to remove the mutation.
Importantly, the CRISPR edit is permanent, which means patients may only need a single dose and be set for life.
The trial is expected to enroll 18 patients in total and will look at different doses of the experimental drug, refining how much is necessary to achieve the goal of reversing blindness -- without any side effects. Information about the first patient is scant, with researchers staying silent on patient information and when the surgery officially occurred.
From the press release:
AGN-151587 (EDIT-101) is an experimental medicine delivered via sub-retinal injection under development for the treatment of Leber congenital amaurosis 10 (LCA10), an inherited form of blindness caused by mutations in the centrosomal protein 290 (CEP290) gene. The BRILLIANCE clinical trial is a Phase 1/2 study to evaluate AGN-151587 for the treatment of patients diagnosed with LCA10 and is the world's first human study of an in vivo, or inside the body, CRISPR genome editing medicine. The trial will assess the safety, tolerability, and efficacy of AGN-151587 in approximately 18 patients with LCA10.
[...] "Currently patients living with LCA10 have no approved treatment options. For years, Allergan has had an unwavering commitment to advancing eye care treatments. With the first patient treated in this historic clinical trial, we mark a significant step in advancing the AGN-151587 clinical program and move closer to our goal of developing a game-changing medicine for LCA10 patients," said Brent Saunders, Chairman and CEO, Allergan.
I have a friend who has gone mostly blind in her mid-20s from a combination of genetic predisposition and environmental factors. Different circumstances than these, but I hope that the more is learned along the way, the more that can be done to alleviate vision loss.
(Score: 3, Informative) by Taibhsear on Monday March 09 2020, @01:30PM
I had to do some digging but I finally found a powerpoint presentation on the actual substance/procedure they are using. There are a few ways to use CRISPR/Cas to edit things. Generally speaking it finds a specific sequence on the DNA and cuts it, then the cell repairs the damage. Sometimes it puts it right back to the way it was and sometimes it causes an edit. There's ways to specifically edit single bases. These are called "base editors". The mutation these people have is called a "snip" (single nucleotide polymorphism). I've seen other research where they use a base editor to fix the mutation (beta-thalassemia was one of them). What this tool is doing isn't a base editor though. If I read correctly, the mutation in this disease causes a "premature stop codon". Basically the cell sees this nucleotide sequence and stops making the protein before it's finished. What this tool is doing is taking the exon (the sections of the DNA that code for proteins) that the mutation is in and cuts the section out. This makes the protein be built properly and returns proper function to the cells. However the big problem with CRISPR/Cas right now is it causes off-target mutations. Basically other spots in your genome have similar sequences and the tool edits there as well, causing mutations in genes that were working properly. In this particular study they found 144 different sites the tool could potentially cut at. They found indels (insertions of bases, deletions of bases), inversions (essentially the area you are trying to cut out just gets flipped and re-glued back in place), and insertions of viral material into the cellular genome from the adeno associated virus they use to inject the AGN-151587 into the cells. So the trick here is they seem to have found a way to isolate just the cut they are looking for and none of the off-site mutations. The trials will see if they pull it off. I can't imagine they would allow trials to go forward without proving they could prevent all of the off-target mutations, so fingers crossed.
Here's the presentation (pdf warning): https://www.nationalacademies.org/cs/groups/genesite/documents/webpage/gene_195245.pdf [nationalacademies.org]