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Approved Research

Utilization of Large Public Datasets to Characterize Neurological Disorders

Principal Investigator: Dr Abby Hare-Harris
Approved Research ID: 88464
Approval date: November 7th 2022

Lay summary

The aim of this study is to use a genomics-driven approach to identify genetic variants that disrupt splicing patterns in individuals with neurological disorders. Splicing variants can create alternative gene products that are often non-functional; however, the clinical impact of these variants is largely understudied. We will use a genotype first approach to identify individuals with splicing variants in genes that are associated with neurological disorders and identify genotype-phenotype relationships among these individuals. We will test the hypothesis that the presence of splicing variants has broad impacts on an individual's health and functioning, while also increasing healthcare utilization and medical comorbidities.  The study will assess the true frequency of splicing variants in an unselected population. By characterizing the phenotypic spectrum of these variants, we may help guide health care providers as they work with families to better understand the implications of pathogenic variants. Ultimately, this information could be used to target therapies in a personalized, preemptive manner. This project will be conducted over the course of three years.