Zoe
Zoe
Cambridge Rindge and Latin School
Cambridge, MA
Mentor:
Alisa Manning
Medical and Population Genetics
Type 2 diabetes (T2D) is a prevalent illness that corrodes an individual’s health while exacting a significant cost to our nation’s healthcare system. The defining feature of type 2 diabetes is the inability to maintain glucose homeostasis—a person with type 2 diabetes can't control their blood sugar levels. The path to type 2 diabetes starts with insulin resistance: these patients can synthesize and secrete insulin, the hormone that promotes absorption of glucose from the blood, but the body's organs like the liver or muscle do not "hear" the signal from the insulin. This leads to an overabundance of glucose in the bloodstream and an increased production of insulin, as the body sends a "louder" signal to the organs. Diabetes can progress to the point that a patient has to inject their own insulin because as diabetes progresses the pancreatic beta cells become exhausted and stop producing insulin.
We now know that a person’s genetics can dictate their T2D susceptibility. Genome wide association studies (GWAS) have shown that a cluster of single nucleotide polymorphisms (SNPs) are linked to increased T2D incidence. Currently, investigators examine the effect of each SNP on susceptibility, but "Genetic Risk Scores" are an enhanced metric of genetic susceptibility that use the collections of associated SNPs from GWAS. Zoe developed an algorithm for determining the optimal list of SNPs from a GWAS to use in a genetic risk score. The algorithm chooses one representative SNP from each region in the genome showing an association with T2D or a glycemic trait, accounting for correlation with the other SNPs in the region. Zoe also created a visualization of the association of these SNPs across many diabetes-related traits, including type 2 diabetes, glucose levels and insulin levels.
“Before the summer, I had very little experience coding, and throughout the summer I had to work to learn how to code. It has definitely showed me how cool coding is and the endless opportunities there are to utilize it,” said Zoe. She is now seriously considering majoring in computer science in college.
