Roshni Patel

Predicting disease phenotypes based on genotype data

Phenylketonuria is an inherited metabolic disorder that affects 1 in 10000 newborns every year. Left undiagnosed and untreated, phenylketonuria can cause severe neurological impairment. My project uses machine learning methods on genotypic data to predict the phenotypic impact of genetic mutations. These predictions can supplement current methods used to screen newborns for phenylketonuria.

Message to Sponsor

I feel incredibly fortunate to have received this research opportunity through URAP. I find the work both interesting and meaningful, and I plan to pursue similar work in graduate school.
  • Major: Molecular and Cell Biology
  • Mentor: Steven Brenner/Plant and Microbial Biology