Donna! I am ssososososo happy for you. What a fine experience, science alone. would you mind sending me updates privately? klewel...@shellworld.net Karen
On Mon, 4 Apr 2022, 'Donna Goodin' via MacVisionaries wrote:
Hi all, Warning, this is a little long. I???ve debated whether or not to share this with the list, but I???ve known many of you in this community for a long time now, so I thought I would, since it could potentially be of interest to others here who have my same visual condition. If you don???t want to read, feel free to hit the delete key. :) Last fall, , National Public Radio did a story about a clinical trial that was being conducted using a new gene editing technique called CRISPR to treat Liber???s Congenital Amaurosis, which is the condition that caused my blindness. Being an inquisitive sort, I decided to try and find out more. My cousin who works in genetics was able to track down the study, and I subsequently volunteered to be a participant. The whole story is long, but here???s a synopsis. I went to Portland OR in November, where they had to do a genetic panel to make sure I was a match for the specific genetic mutation that they???re studying. Shortly before Christmas, I received the news that I am in fact a match, and that I had been accepted for participation in the trial. There followed a fair amount of pre-surgery stuff, such as having a congenital cataract removed in order to give the surgeon better access to my retina. But all that is now done, and I leave on Wednesday for Portland. The procedure will be performed on April 12. Crispr is pretty amazing stuff. It has a lot of promise in a wide variety of applications that could make many people???s lives better. My layperson???s explanation of it is that they will turn a tiny bot armed with scissors loose in my retina. The bots??? job will be to cut out the malfunctioning area of the gene and mend it, so that the gene starts to produce the necessary proteins to send visual information to the brain. Over time, this is expected to produce a gradual improvement in my vision. For a more medically based explanation, you can check out this link: https://www.nature.com/articles/s41587-020-0493-4. I know that we all have different feelings about the ???cure.??? As for me personally, I have never sought it out. In fact, many who know me were surprised that I volunteered for the trial???to some extent, including myself. I do have some vision, and I do use the vision that I have, so I wouldn???t say no to any improvement, should that be the outcome. But my primary motivation for volunteering was to help further the science, and whatever my personal outcome, I???m excited to be a part of that. So far, none of the participants has had reason to go out and buy a new car, so, my expectation is that, while I may see better, the overall picture of my life won???t change that much. Though I do experience moments when I wonder if I???m certifiably insane for letting someone take a pair of pruning shears to my genes, I???m optimistic and excited at the prospect of leaving this legacy for others who have LCA. If you???ve read all this, thanks for reading. It is not currently my plan to send updates to the list, because it is off-topic and will not be of interest to everyone. But if you want to be updated, let me know, and I can email you privately. Cheers, Donna -- The following information is important for all members of the Mac Visionaries list. If you have any questions or concerns about the running of this list, or if you feel that a member's post is inappropriate, please contact the owners or moderators directly rather than posting on the list itself. Your Mac Visionaries list moderator is Mark Taylor. You can reach mark at: mk...@ucla.edu and your owner is Cara Quinn - you can reach Cara at caraqu...@caraquinn.com The archives for this list can be searched at: http://www.mail-archive.com/macvisionaries@googlegroups.com/ --- You received this message because you are subscribed to the Google Groups "MacVisionaries" group. To unsubscribe from this group and stop receiving emails from it, send an email to macvisionaries+unsubscr...@googlegroups.com. To view this discussion on the web visit https://groups.google.com/d/msgid/macvisionaries/C504A918-43B5-4DE8-901A-0CC413240D20%40me.com.
