Inspiration
While I was learning more about Duchenne muscular dystrophy, I came across Cooper's story at the Children's Hospital of Philadelphia. Being DMD a disease that appears really early on in life, I was humbled by how our understanding of the mechanisms of the disease could allow these patients to enjoy their childhood. link
What it does
After conducting a literature review, I realized that the role of aquaporins as biomarkers for DMD has been an ongoing debate for nearly two decades now. There is still a huge gap of research on the matter and my aim for this project was to help in bridging this gap.
My project consists of an snRNA study of Vastus lateralis muscle from 3 healthy muscle samples and 3 diseases muscle samples. The analysis brought more information to the role of AQP4 and AQP1 on Duchenne muscular dystrophy.
How I built it
I used R Studio to analyze the Seurat object containing the gene expression information.
Challenges we ran into
A great challenge was to collect the data. I was able to obtain this dataset by reaching out to the members at the Nelson Lab in UCLA.
Accomplishments that we're proud of
I'm quite proud of having conducted a bibliographic review prior to writing the article on the subject. Being there little research available on the topic I believe that connecting the different dots and concepts from article to article was quite an accomplishment. It definitely helped at the time of writing the final paper to be able to connect the results with the physiopathology of the disease.
What we learned
I furthered my understanding of Duchenne muscular dystrophy and its effect on skeletal muscle. DMD is actually a disease with a wide phenotypic range, and it was interesting to analyze the results under that scope.
What's next for AQP1 & AQP4 as Biomarkers for Duchenne Muscular Dystrophy
My project opens the door for further multiomics studies on the interactions of AQP1 and AQP4 in Duchenne muscular dystrophy.
Built With
- r
- rstudio
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