The People Around Me
Deeann Wallis, PhD, University of Alabama at Birmingham
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The fact that I study NF1 can be attributed directly to two factors: Dr. Bruce Korf and philanthropic funding from the Gilbert Family Foundation. I’m sure Bruce has touched most of us in this field in one way or another, but I was an unlikely faculty recruit. While I had done all the right training as a molecular geneticist, I had been spending significant time raising my family. Regardless, I wanted to make a bigger impact and Bruce took a risk. I knew nothing about NF1, but since my start-up funds from GFF were for NF1 research, I jumped in. Bruce sent me a list of 50+ manuscripts to bring me up to speed. It has been a struggle to come to grips with over 30 years of past research, but little by little, and over time, I’ve managed some of it. Bruce has remained my champion. A few weeks in, I met Peggy Wallace. Her view is that if I consider everything I know about genetics, NF1 breaks all of those rules. She’s right.
Personally, I found it difficult to break into the NF1 research community. Perhaps it was because I wasn’t a trainee and I seemingly came out of nowhere. I felt others were quick to criticize choice of model systems or assays, but would not suggest better ones or give better rationales. But, I kept turning up and people at least became familiar with me. Being present and always bringing at least a little something to the table has helped. It’s taken years, but over that time I’ve met many truly amazing people: clinicians, scientists, patients, and patient representatives. I get so much encouragement from the people around me; especially the patients and patient representatives. Their motivation is both pure and urgent, it propels me. In turn, several of my trainees are patient representatives. They know why they get up each morning and come into lab. Their passion fuels mine.
As I began my career in NF1, selumetinib was being tested clinically and was eventually approved. This has been huge godsend for patients, and the excitement is palpable in the community. But, I see families that are experiencing toxic side effects and they know, and I know, they need more. I want to give them more. My lab has been dedicated to finding and developing different therapeutics for NF1. Most of the ones we are considering are gene-targeted therapeutics. I’m very collaborative and have been able to investigate a number of different avenues. In particular, my lab has been investigating ASOs for exon skipping and cryptic splice site repression. My collaborators have been key. Dr. Linda Popplewell and her expertise from the DMD field has been critical. Dr. Bob Kesterson and his generation of more than a dozen patient-specific NF1 animal models has been essential. Along with others we are evaluating gene editing, RNA editing, nonsense suppression therapeutics, and nanoparticle delivery of cDNA, synthetic DNA, and protein. I feel like I’m scrambling and pushing in all directions simultaneously. I want to see at least one of these successfully transition to the clinic. That’s my goal.
Gene-targeted therapy is the direction the field is moving, but funding and education will be key. Large scale funding for NF1 and such innovative gene targeted therapeutics is problematic. I feel certain had it not been for continued funding from GFF, I would no longer be studying NF1. I also think we underestimate just how much patients and clinicians will need to come to terms with in order to weigh the possible risks and benefits of these various approaches. I think here again NF1 breaks all the rules. It’s hard to know who is at highest risk and stands to benefit the most. And each therapy has different risks associated with it. This will be complex. For now, I plan to keep showing up and bringing a little something each time.
