Peter Leary
Mid-career Tenured Researcher, University of Washington
2 active projects
methamphetamine
Scientific Questions Being Studied
CES1 has been implicated in the pathogenesis of pulmonary arterial hypertension associated with methamphetamine use; however, it is not known whether mutations in CES1 are common among individuals with methamphetamine use disorder who do NOT develop pulmonary arterial hypertension. The current query is meant to understand whether or not CES1 is a feature of methamphetamine use disorder more broadly or specific to patients with methamphetamine associated PAH.
Project Purpose(s)
- Disease Focused Research (methamphetamine use disorder)
Scientific Approaches
Query to look for CES1 mutations in individuals with methamphetamine use disorder (simple description).
Anticipated Findings
This study will either reinforce the narrative that CES1 is involved in the pathogenesis of PAH among those who use methamphetamine or will refute this hypothesis by suggesting that CES1 mutations are common among those with methamphetamine use disorder more broadly.
Demographic Categories of Interest
This study will not center on underrepresented populations.
Data Set Used
Controlled Tier
PAH genetic predisposition
Scientific Questions Being Studied
Pulmonary arterial hypertension is a rare disease (~2-5 deaths per million people annually in the US).
There are infrequent but known genetically mediated/familial forms of PAH with what is believed to be moderately low penetrance of ~20% (BMPR2, ACVR1, AQ1, ATP13A3, CAV1, EIF2AK4, ENG, GDF2, KCNK3, SMAD9, SOX17, TBX4, BMPR1B).
The true frequency of these mutations in the population is not known. The intent of the current research is better understand the population frequency of mutations in genes known to be associated with pulmonary arterial hypertension. This will help us to better understand importance concepts related to the penetrance of disease and begin to understand whether or not there are genetically mediated mild phenotypes of disease that are currently unrecognized.
Project Purpose(s)
- Disease Focused Research (Pulmonary arterial hypertension)
Scientific Approaches
The WGS dataset will be used.
Population frequency of mutations in genes that are known to be associated with pulmonary arterial hypertension will be calculated including: BMPR2, ACVR1, AQ1, ATP13A3, CAV1, EIF2AK4, ENG, GDF2, KCNK3, SMAD9, SOX17, TBX4, BMPR1B.
Anticipated Findings
Understanding the population frequency of mutations in genes known to be associated with pulmonary arterial hypertension will help contextualize (but not directly inform) the penetrance of disease in these mutations and may ultimately inform a population for study with mild phenotypes or early disease.
Demographic Categories of Interest
This study will not center on underrepresented populations.
Data Set Used
Controlled TierRequest a Review of this Research Project
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