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Approved research

Genetic heterogeneity of respiratory disorders

Principal Investigator: Dr Julie Hunkapiller
Approved Research ID: 29195
Approval date: September 3rd 2018

Lay summary

We aim to find genetic loci associated with pulmonary disorders. These disorders are highly heterogeneous. To explore the genetics of this heterogeneity, we will use medical record, patient measurements and questionnaire data to subdivide individuals with each disease into phenotype-defined subgroups. This sub-phenotype specific genetic study can help uncover associations of genetic variants that would otherwise be hard to detect when analyzing all disease cases together. Secondly, we aim to characterize and quantify the genetic overlap between respiratory disorders and, spirometry measures and other clinically relevant phenotypes. The results of our analyses will expand the understanding of respiratory disorder genetics in addition to generating new targets for treatment development. This study will be carried out over the course of three years. We intend to present our results at conferences as well as publish results in scientific journals.