I’ve always been drawn to human diseases and genetics. When I first really learned genetics in school, I was completely fascinated and excited by the fact that we had identified and begun to decipher the instructions for human cells. We were holding the keys to cellular function, health, and ultimately life. How do we use this incredible knowledge? For me, it was simple: study disease and figure out how to fix it.
I chose two research projects when I was in graduate school – both turned out to be studying different pediatric genetic disorders that resulted in the loss of an essential cellular function. I felt like I was contributing to the field of science and human health the best way I could – by figuring things out, deepening our understanding, and adding more pieces to the puzzle. But at one point I realized that my love of basic science wasn’t enough. I also needed to do the real-world experiment. It was time to start bringing treatments to patients in the experiment of a clinical trial, and that’s what I did for more than 10 years.
What has drawn me to RSRT aside from the amazing people here who have dedicated their lives to ending Rett Syndrome is a few things. Though I have worked with a small number of pediatric indications in the clinic before - infantile spasms, autism spectrum disorder, and fragile X syndrome, and though they are complex neurodevelopmental disorders like Rett Syndrome, they seem different. There is a unique feel about the Rett community. Researchers, clinicians and parents seem to share an irresistible optimism, a quiet strength, and a compelling determination I haven’t seen before. I am moved and inspired by you. And I am hopeful that my clinical development experience will add value as we take Rett Syndrome research from the lab into the clinic with our Roadmap to a Cure.
Of all the times to be in the spotlight for targeted therapies, Rett syndrome couldn’t be better positioned, due in large part to the heroic efforts of Monica and her vision, and the remarkable progress that Randy Carpenter, RSRT’s chief scientific officer, has helped push forward. At RSRT, I’m excited to be working with the newly developed Clinical Trial Consortium and the Outcome Measures and Biomarkers Consortium – specialized groups of Rett clinicians and experts with a very focused agenda. Together, these groups will be important for supporting clinical trials in our space and will focus on creating measures to best assess treatment effects in our patients, assist with clinical trial design and prioritization, and support our goal to move clinically meaningful treatments forward. I am honored to be a part of the team and I look forward to what we’ll accomplish together.