Senior Project

This project uses whole genome sequencing data from a consenting adult participant in order to investigate the genetic basis of Familial Hemiplegic migraine. Familial Hemiplegic migraine is an inherited neurological condition characterized by migraine with hemiplegia or hemiparesis. There are currently known variants in three main genes (CACNA1A, ATP1A2, SCN1A) that contribute to this condition. However, there is a large portion of patients with none of these genetic variants, suggesting there are undiscovered variants contributing to FHM.

Using whole genomic data at about 30x coverage, I plan to apply a variant filtering and annotation pipeline using open-source tools like the genomic analysis toolkit (GATK) to identify rare and/or potentially pathogenic variants involved in neurological function. I will generate a list of rare and pathogenic variants present that could potentially contribute to the hemiplegic migraine phenotype.

This project is intended as hypothesis generating research rather than clinical diagnosis or medical guidance. The goal is to explore how whole genome analysis can be used to investigate the pathogenesis of rare conditions and engage with the ethical concerns of using human genetic data.