NIH grant approved to develop my retinal organoids
Monday, April 26th, 2022, I received a 10 pm email from Deepak Lamba (link to lab), a professor at the University of California, San Francisco (UCSF) whom I’ve been corresponding about his work on stem cell technology and development of retinal organoids. The email says, “I just saw a notice dated tomorrow (4/27) that your supplement got approved. Congratulations and welcome to the lab!”. My eyes widen and immediately I jumped out of my chair before it hit the bookshelf, I got to Matt and said, “I got the grant!”. A few moments later, my doctor, Jacque Duncan — who is still running the Natural History Clinical Trial, introduced me to FFB, and the low vision community — has emailed me to congratulate the approval of the grant. It was a moment of disbelief, joy, and warmth from the community of people who have supported my journey thus far and further.
What is this grant and what does this mean for me?
I had just received approval for a Re-Entry Grant funded by the National Institute of Health (NIH), which funds individuals to return to academia after leaving between 6 months and 8 years (link). For those interested, you need a PI to sponsor you and submit the grant application which is comprised of (1) biosketch, (2) grant proposal, and (3) personal statement. Your PI needs to submit a budget detailing the next 2 years of the work and more supplementary information. Although many saw this as a way to develop their skillsets, for me, it meant I can research my specific variant and understand how EYS is causing retinitis pigmentosa. It meant that if we can develop these retinal organoids, which are mini-retinas grown in Petri dishes, we can model one of the first late-onset retinal diseases and observe morphological differences. Furthermore, we can develop and experiment with several therapeutic approaches, such as gene editing directly on my retinal organoids.
What is my ultimate goal?
My biggest hope is that I can transfer this knowledge, this self-cure guide experience to others suffering from rare diseases. It can be this particular path or similar paths that lead to the endpoints needed to derisk the therapy and demonstrate efficacy early in the preclinical process. If we can make these observations early, we increase the chances of success later and make collecting data less expensive for families and foundations. These points alone are priceless for the families and communities inflicted by rare diseases and who rarely get an opportunity to find a researcher working on their disease. Can we improve modeling pathology systems and get more insight into therapeutic efficiency, drug delivery success rate, and toxicology? Each of these insights would easily cost $1M and if we plan to find a treatment plan for every 7000 rare diseases, then the infrastructure and the cost need to change dramatically. Here’s one vision of creating a network of mini-CROs to help build this affordable infrastructure (link) and another is to create a research institution like Broad that dedicates a lot of resources to studying rare diseases (link). As we build these infrastructures for the N-of-1 or N-of-few, we see the entire clinical pathway benefits and we see a more robust system that can take on more diseases that don’t fit the typical medical cookie-cutter mold. We are able to accommodate the rest of the medical cases that are one to two standard deviations and EVEN outliers.
