Maximillian Marin
Mucin1 (MUC1) kidney disease (MKD) is a rare autosomal dominant genetic disease that leads to impaired function of the kidneys and kidney failure starting in the third decade of life. The cause of MUC1 kidney disease is known to be a genetic insertion which results in a frameshift within the large variable number tandem repeat (VNTR) region of the MUC1 gene. It is currently hypothesized that the novel protein that is produced by the frameshift is toxic to the kidneys, and thus results in kidney failure that is characteristic of MKD. We investigated the potential impact of other genetic variants on the age of onset of kidney failure. Using RNA-seq data sets provided by the Genotype-Tissue Expression (GTEx) project, we performed transcriptional analysis of the differential splicing and gene expression of the MUC1 gene. From this analysis we were able to better understand the mechanism of the development of MUC1 kidney disease, informing our efforts to develop therapeutic options for the disease.
PROJECT: Genotype effect on age of onset of kidney failure in MUC1 kidney disease
Mentor: Eleanor Howe, Center for the Development of Therapeutics
The Summer Research Program in Genomics helped me grow in ways I could not have imagined. I was able to conduct research with top scientists, while also participating in a rich curriculum outside the lab. My time at the Broad has changed the way I view the work of scientific discovery. I learned from this experience that success in science comes from perseverance, curiosity, and a willingness to try something new.
