Maya Smith
Maya Smith
Class of 2023
Embedded Files
Project: Evaluating the effectiveness of an AAV gene therapy administered in a bovine model of maple syrup urine disease
Project: Evaluating the effectiveness of an AAV gene therapy administered in a bovine model of maple syrup urine disease
Mentor: Dr. Heather Gray Edwards, University of Massachusetts Medical School
Mentor: Dr. Heather Gray Edwards, University of Massachusetts Medical School
Entrant, Regeneron Science Talent Search ‘23
Finalist, New York-Metro Junior Science and Humanities Symposium ‘23
(2nd place in Medicine and Health at Semifinals)
Maple syrup urine disease (MSUD) is a rare genetic disease that affects an enzyme called the branched-chain alpha-ketoacid dehydrogenase complex (BCKDHA) and its ability to break down specific substances in the body. These substances are amino acids - specifically, branched chain amino acids (BCAAs). MSUD can be fatal and does not have a cure.
Because of this, I investigated the effectiveness of a promising treatment for genetic diseases: gene therapy. The goal of this study was to evaluate the effectiveness of the adeno-associated virus (AAV) gene therapy, a virus that comes from common colds, for MSUD by measuring BCAA levels, neurotransmitters, and vector genomes of the therapy, using samples which my mentor collected because she was testing the gene therapy on a cow model. Doing this helped us determine the efficacy of the gene therapy in hopes of finding an effective and non-invasive treatment for patients with MSUD. BCAA levels were measured to determine the activity of the BCKDHA enzyme.
I conducted quantitative PCR (qPCR) to track the concentration of vector genomes to determine whether the vector was spreading throughout the cow’s body and whether it continued to move into new cells after cell division.
I found that the concentration of vector genomes decreased as the cow grew, and the BCAA levels were still higher than normal. This means that the gene therapy was not effective because vector genomes did not spread throughout the body, and BCAA levels were still higher than normal. In the future, a higher dose of gene therapy may help achieve this goal.
Maya Smith senior project overview.mov[online] Maya Smith Symposium 2023 Final Poster.pdfQ & A with Maya
Q & A with Maya
Coolest part of your research project?
Being able to watch procedures done on the cow that my project was based on and performing lab procedures that I had been reading about in journal articles.
What inspired you to choose this topic?
I was inspired to study Tay-Sachs initially because not only how severely the disease affected the patient but also the impacts it had on the family as well. These genetic diseases are so rare and therefore they are under-researched, and so I wanted to contribute even just a little to help advance towards finding a cure to these deadly diseases. MSUD is very similar to Tay-Sachs, and so when I switched mentors, we decided to focus on MSUD.
What influence did the older ASR classmates have on you?
All of the seniors were very accomplished and I definitely looked up to them as role models for me and aspired to accomplish as much as they did. They also made me want to be the type of role models that they were for me to younger ASR students.
What were some of your fears and worries when you applied to ASR, and what would you say to younger students who have them?
I definitely had severe imposter syndrome and it took me a while to become confident in myself that I belonged in this class. One thing to remember is that everyone probably feels this way and you’re not alone. As long as you’re dedicated, you will definitely succeed.
What’s a misconception that people have about ASR or ASR students?
The biggest misconception is that ASR students only focus on school and that is their whole life.
Most important thing you’ve learned in ASR?
I’ve learned that pretty much everything I put my mind to, I can do. Initially, I thought that ASR was completely out of reach and I would never accomplish anything close to what other students have accomplished, but now here I am!
Page updated
Report abuse