Laura Manfre wrote -
Sofia was told she would be totally blind someday.
Sofia has Leber's Congenital Amaurosis, a rare genetic disorder. Although she has some vision now, this is a degenerative condition that causes the cones and rods in her retina to deteriorate. Eventually they will stop working altogether.
We can raise the money to fund the gene therapy for her gene. (IQCB1, if you're into details.)
In simple words that her very non-scientific parents can understand:
- Your donation will go towards funding the development of a vector for the IQCB1 gene.
- The vector is more or less a virus (a good one, we like to think of it as a boat) that carries the good IQCB1 gene (a sailor) into the retina.
- Once in there, the good gene swims around, replicates, and replaces the bad genes.
- Vision is restored!
This type of gene therapy has been done before for patients with LCA, but with different gene types and it works! It's really pretty cool.
This research won’t help only Sofia, but will benefit all kids and adults with the IQCB1 defect. Also, once the vector is developed there is the opportunity to use this for other genetic disorders.
To read more about the Foundation for Retinal Research, click here: http://www.tfrr.org/
If you want to connect with us directly, send an email to firstname.lastname@example.org.
If you're donating, THANKS, and don't forget to do a corporate donation match if you can!