At the beginning of June, I was invited to tag along with Jen Farmer and a couple other representatives from FARA and the FA community as they toured two research facilities in North Carolina. Both of these labs were looking at how they could benefit FA patients, but in different ways. Heads up, I dropped a major in college because it required a science class! So I’ll dumb it down and let Jen fill in my gaps!
Tuesday, June 7: Bamboo Therapeutics in Chapel Hill, NC
Mary: This place is 5 minutes from me and I didn’t know it! Bamboo is working on gene therapy for FA, Duchenne, and a couple other conditions. They are creating viruses to deliver a correct copy of the FA gene to the cells most important in FA - nervous system and heart.They are expanding their lab so they can do this in a higher capacity. The people there were awesome! They asked us questions about our priorities for treatment so that they can work to address the real concerns in the FA community. They also asked how we feel about risk, and I said no one with FA is scared of big needles and a little blood! I’m going to keep up with this place, so I’ll report back with any cool developments
Jen: Dr. Jude Samulski is a founder of Bamboo Therapeutics and a leader in the gene therapy field because of his expertise in discovering and optimizing viruses that can be used for gene therapy. Dr. Samulski explained to us how they are optimizing the AAV virus to enhance the specificity of AAV to target organs and tissues, as well as improve the efficiency of transduction of potential therapeutic genes (frataxin in FA) into host cells. We were also given an amazing tour of their new manufacturing facility and got an upclose look at how they are planning to scale up their production with new bioreactors. As Mary mentioned we also talked with the team about symptoms of FA that are important to treat (balance, coordination, speech, vision, hearing, fatigue and cardiac disease) and what types of procedures people might be able to tolerate related to delivery of a therapy. As this was a first meeting, I see this as the very beginning of more conversations as these are important issues that we want to discuss with the wider FA community.
Wednesday, June 8: Hirschey Lab at Duke University
Mary: This one was heavily research oriented, so bear with me!! Basically they are studying how the mitochondria uses protein to regulate energy levels in cells. The most interesting part to me was how they are doing this: with FA-affected mice. They are in the middle of their study with the mice, so they couldn’t give conclusions, but by introducing something called NMN they hope to improve the quality of life for these mice. They look at things like weight and mobility to gauge quality. They also hope to improve longevity and have had some success!
Jen: Mary is right this was deep dive into mitochondrial science and mouse models. Dr. Hirschey and Angel Martin (grad student in the lab doing all the detailed mouse studies) did a great job explaining to us all that they have learned about FA in the past two years (this work will be published soon so everyone can read about it!). Dr. Mark Payne (many of you may have heard of his name, cardiologist and FA researcher) started working with Dr. Hirschey because of his expertise in studying the acetylation of proteins in the mitochondria (think of acetylation as the proteins getting a special tag). He thought that Dr. Hirschey could help us understand more about what happens to the mitochondria that leads to cardiac disease. FARA funded a two year grant to Drs. Payne and Hirschey, titled "Mitochondrial Protein Acetylation and Heart Failure in Friedreich’s Ataxia". During these two years they have worked hard examining the FA mice to understand the pathways and mechanisms for acetylation and are now testing to see if there are possible therapeutic approaches by blocking the acetylation and/or reducing the "bad" effects of acetylation.
Both of these labs were pretty great! Here I thought nothing was happening in my state, and it turns out there is so much going on! I might not have understood all the science, but I did feel the hope and the drive of these scientists to cure FA. The future is bright!