Mark Sonderman
Early Career Tenure-track Researcher, Vanderbilt University Medical Center
3 active projects
Dilated Cardiomyopathy Genomic Data v7
Scientific Questions Being Studied
Our group is exploring the contribution of known genetic variants to the presence of dilated cardiomyopathy in the All of Us database. Previous groups have described the frequency of these pathologic variants in referral populations of European descent, primarily through the UK Biobank. We are the first group to explore if the frequency of these variants is different in more diverse populations as captured in the All of Us database.
Project Purpose(s)
- Disease Focused Research (dilated cardiomyopathy)
- Ancestry
Scientific Approaches
We will use the All of Us database to collect genomic data for patients within the All of Us database that have dilated cardiomyopathy. We will identify patients within AoU with dilated cardiomyopathy using a previously published algorithm that makes use of ICD codes, medication information, and cardiac imaging data (TTE, CMR). We have 19 genes of interest that have previously been identified as having Moderate to Definite association with dilated cardiomyopathy. We will also collect data on heart failure risk factors (hypertension, atrial fibrillation, etc) within this population in AoU.
Anticipated Findings
No group has previously described the frequency of causal variants outside of patients with European ancestry referred for genetic testing. Our group will contribute to scientific knowledge by enhancing our understanding of the contributions of these causal variants in a non-european population. Our anticipated finding is that the frequency of dilated cardiomyopathy cases in a non-referral and non-european population attributable to known causal variants will be less than reported in european, referral populations. This finding would then support our group's project identifying novel disease causing variants through additional analysis within the AoU database. The results of both of these projects would better inform the utility of genetic testing in patients with dilated cardiomyopathy in the US as well help with the interpretation of identified genetic variants identified in patients that undergo genetic testing without dilated cardiomyopathy.
Demographic Categories of Interest
- Race / Ethnicity
Data Set Used
Controlled TierResearch Team
Owner:
- Mark Sonderman - Early Career Tenure-track Researcher, Vanderbilt University Medical Center
- Brandon Lowery - Other, Vanderbilt University Medical Center
- Eric Farber-Eger - Project Personnel, Vanderbilt University Medical Center
Collaborators:
- Quinn Wells - Mid-career Tenured Researcher, Vanderbilt University Medical Center
Dilated Cardiomyopathy Genomic Data
Scientific Questions Being Studied
Our group is exploring the contribution of known genetic variants to the presence of dilated cardiomyopathy in the All of Us database. Previous groups have described the frequency of these pathologic variants in referral populations of European descent, primarily through the UK Biobank. We are the first group to explore if the frequency of these variants is different in more diverse populations as captured in the All of Us database.
Project Purpose(s)
- Disease Focused Research (dilated cardiomyopathy)
- Ancestry
Scientific Approaches
We will use the All of Us database to collect genomic data for patients within the All of Us database that have dilated cardiomyopathy. We will identify patients within AoU with dilated cardiomyopathy using a previously published algorithm that makes use of ICD codes, medication information, and cardiac imaging data (TTE, CMR). We have 19 genes of interest that have previously been identified as having Moderate to Definite association with dilated cardiomyopathy. We will also collect data on heart failure risk factors (hypertension, atrial fibrillation, etc) within this population in AoU.
Anticipated Findings
No group has previously described the frequency of causal variants outside of patients with European ancestry referred for genetic testing. Our group will contribute to scientific knowledge by enhancing our understanding of the contributions of these causal variants in a non-european population. Our anticipated finding is that the frequency of dilated cardiomyopathy cases in a non-referral and non-european population attributable to known causal variants will be less than reported in european, referral populations. This finding would then support our group's project identifying novel disease causing variants through additional analysis within the AoU database. The results of both of these projects would better inform the utility of genetic testing in patients with dilated cardiomyopathy in the US as well help with the interpretation of identified genetic variants identified in patients that undergo genetic testing without dilated cardiomyopathy.
Demographic Categories of Interest
- Race / Ethnicity
Data Set Used
Controlled TierResearch Team
Owner:
- Mark Sonderman - Early Career Tenure-track Researcher, Vanderbilt University Medical Center
- Brandon Lowery - Other, Vanderbilt University Medical Center
- Eric Farber-Eger - Project Personnel, Vanderbilt University Medical Center
Collaborators:
- Quinn Wells - Mid-career Tenured Researcher, Vanderbilt University Medical Center
DCM-Initial Cohort Builder
Scientific Questions Being Studied
Our group is exploring the contribution of known genetic variants to the presence of dilated cardiomyopathy in the All of Us database. Previous groups have described the frequency of these pathologic variants in referral populations of European descent, primarily through the UK Biobank. We are the first group to explore if the frequency of these variants is different in more diverse populations as captured in the All of Us database.
Project Purpose(s)
- Disease Focused Research (Dilated Cardiomyopathy)
Scientific Approaches
We will use the All of Ss database to collect genomic data for patients within the All of Us database that have dilated cardiomyopathy. We will identify patients within AoU with dilated cardiomyopathy using a previously published algorithm that makes use of ICD codes, medication information, and cardiac imaging data (TTE, CMR). We have 19 genes of interest that have previously been identified as having Moderate to Definite association with dilated cardiomyopathy. We will also collect data on heart failure risk factors (hypertension, atrial fibrillation, etc) within this population in AoU.
Anticipated Findings
No group has previously described the frequency of causal variants outside of patients with European ancestry referred for genetic testing. Our group will contribute to scientific knowledge by enhancing our understanding of the contributions of these causal variants in a non-european population. Our anticipated finding is that the frequency of dilated cardiomyopathy cases in a non-referral and non-european population attributable to known causal variants will be less than reported in european, referral populations. This finding would then support our group's project identifying novel disease causing variants through additional analysis within the AoU database. The results of both of these projects would better inform the utility of genetic testing in patients with dilated cardiomyopathy in the US as well help with the interpretation of identified genetic variants identified in patients that undergo genetic testing without dilated cardiomyopathy.
Demographic Categories of Interest
- Race / Ethnicity
Data Set Used
Registered TierResearch Team
Owner:
- Mark Sonderman - Early Career Tenure-track Researcher, Vanderbilt University Medical Center
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