Article from the Daily Mail (so take it with a pinch of salt 😏) announces groundbreaking DNA editing technique that could be instrumental to curing 15,000 genetic mutations (could include ataxia ✌️)
The part about CRISPR technology is especially interesting.
Here's the link for anyone who would like to have a read:
Might be a looong way off still but always great to hear about new research on the horizon!
Hope you are all well 😊
🙂 With so many people coping with challenging genetic conditions, this is very encouraging news 👍🙂xB
I wrote to one of the lead scientists involved; here was the response:
Dear Mr. Peck,
Jennifer and those of us at the Innovative Genomics Institute are truly sorry to hear about your struggle with SCA1. People like you and your family motivate us to do the work that we do.
In theory, CRISPR gene editing could be used to fix the polyglutamine expansion in SCA1. The Doudna lab (and others) are researching how CRISPR might be applied to treat a similar disorder, Huntington's disease. The nature of these disorders suggests that insight gained about one may very well be applicable to the other. In my opinion, there are two main roadblocks to achieving CRISPR-based treatments in humans: delivery and accuracy.
Delivery: We know what changes we need to make in DNA to alleviate disease, but getting the editing molecules into the affected tissues to actually edit the DNA is a huge challenge. Direct injection into the brain may end up being the best option, or we may be able to develop less invasive molecular shuttles that bring editing components from the bloodstream to the brain. This is an area of intense, active research in the gene editing community right now.
Accuracy (safety): Once CRISPR editing components get into disease-affected cells, we need to make sure they only change DNA in the intended place. Right now, the Cas9 protein sometimes cuts in the wrong spot, which could cause cancer. This problem is slowly being solved by researchers, but it remains to be seen how accurate the CRISPR system will be in humans. Any therapy must therefore be tested rigorously to ensure that the side effects are not worse than the condition it aims to treat.
Thus, even for illnesses with a well-understood genetic cause (like SCA1), developing a treatment or cure requires much more scientific research, extensive safety and efficacy studies, clinical trials, and more. Therapeutic gene editing is still in the very early stages of development. The IGI is years away from turning our current CRISPR research into a real treatment option for any disorder. We are committed to seeing this through, but are not there yet.
Please visit innovativegenomics.org/ to learn more and follow our updates. You may wish to get in touch with patient advocacy and support groups for more personal guidance. For example, MyGene2 and the Rare Genomics Institute are excellent organizations that connect patients and their families with both patient advocates and scientific researchers who are studying their specific condition.
Thank you for taking the time to write to us. We wish you and your family well.
Sincerely,
Megan Hochstrasser, PhD
Hello to hope. Thank you for this forum
My College Assessment 
New to the site and looking for people's lived experiences
Vitamin deficiencies? Reversible?
