I am a primary investigator of the Regulus RG012 study using RNA inhibition to treat Alport Syndrome.
Here are some good resources that I used to brush up my Alport and RNA inhibition skills.
First a video review of Alport
The best part of the video is the detailed description of collagen IV at 4 minutes. This finally allowed me to understand the multiple mutations that cause Alport.
This video is grand-rounds length description of Alport with a focus on how it affects women by my friend Michelle Rheault.
RG-012 uses a drug that is a oligonucleotide that inhibits the activity of miR-21. miR-21 is a micro RNA which affects the translation of mRNA to protein. In high school biology I learned about messenger RNA, transfer RNA, and ribosomal RNA and that was enough RNA for anyone. But then the Nobel Prize guys had to go and give a prize for the discovery of RNA interference in 2006. Here is a basic explainer about RNA interference.
Here is Regulus’ presentation on RG-012
If you are a physician in Michigan with a patient with Alport Syndrome (needs to be pre-dialysis and per-transplant) or a patient with Alport Syndrome please get in touch, we want to hear from you.
Joel Topf (jtopf@mac.com)