Nikhil Puttamraju

How do specific genetic variants in across various genes correlate with the severity of familial hypercholesterolemia phenotypes, and how can these insights inform the development of targeted gene therapies?

Started June 2, 2025

Abstract or project description

This genomics project focuses on analyzing genetic variants associated with familial hypercholesterolemia (FH), a hereditary disorder marked by elevated LDL cholesterol and heightened cardiovascular risk. Through next-generation sequencing of genes commonly implicated in FH—such as LDLR, APOB, and PCSK9—the study will identify and classify pathogenic variants using bioinformatics tools and databases including ClinVar. A statistical analysis will be conducted to uncover variant frequency patterns and potential genotype-phenotype correlations across populations. The ultimate goal is to support the development of targeted gene therapies by refining our understanding of high-impact variants and enabling precision treatment for individuals affected by FH.