Until recently, we expected that Sofia would be completely blind. Maybe before the end of High School, maybe sometime in her 20s. (She is legally blind today.)
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 deteriorating and will eventually stop working.
We raise money to fund the research to develop gene therapy for her gene. (IQCB1, if you're into details.)
In simple words that her very non-scientific parents can understand:
1, Your donation will go towards funding the development of a vector for the IQCB1 gene.
2. 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 into the retina.
3. Once in there, the good gene floats around, replicates, and replaces the bad genes
4. Vision is restored!
This type of gene therapy has been done before for other LCA patients with different gene types and it works! It's really pretty cool. We just need a vector for our gene.
This research won’t just help Sofia, but will benefit all kids and adults with this gene disorder. Also, once the vector is developed there is the opportunity to use this for other good 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 email@example.com.