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IU researchers use REDCap to study pediatric heart diseases

If your child had heart disease, you would probably want to know why and who else in the family could be at risk. With this focus in mind, Dr. Stephanie Ware, Program Leader in Cardiovascular Genetics in the Herman B Wells Center for Pediatric Research at the Indiana University School of Medicine, Dr. Benjamin Landis, Assistant Professor of Pediatrics in the Herman B Wells Center for Pediatric Research at the Indiana University School of Medicine, and their research group have been working to understand the genetic and developmental basis of pediatric heart disease.

Clinical researchers in the Cardiovascular Genetics Program (top left, clockwise: Christopher Crawford, Courtney Vujakovich, Dr. Ben Landis, Alexis McEntire, Dr. Stephanie Ware, Lindsey Elmore)

  • What are your research goals and what do you hope to accomplish?

This research program focuses on the genetic and developmental basis of pediatric heart disease. The three main areas of interest are disorders of cardiac function (cardiomyopathies and aortopathies), disorders of structure (congenital heart disease), and the psychosocial aspects of genetic counseling. The Cardiovascular Genetics program currently has 11 IRB-approved human subjects research studies open for enrollment.

Translational research on congenital heart defects aims to investigate and identify novel genes underlying cardiovascular malformations using genome-wide analyses. High priority candidate genes identified by this approach are validated using high throughput screens in Xenopus, with novel candidates being further evaluated in mouse models of disease. Research efforts in cardiomyopathy and aortopathy are focused on identifying novel causes of these pediatric diseases, delineating genetic modifiers utilizing genomic technologies for functional annotation and validation of genetic variants. Dr. Ware also coordinates the Cytogenomics of Cardiovascular Malformations Consortium, a highly collaborative alliance of outstanding academic pediatric cardiovascular genetic centers that have developed a clinical cytogenetic registry with deep cardiac phenotyping.

  • How does REDCap help you pursue these goals?

Electronic data and files are entered into and maintained within the REDCap database system for all study participants enrolled into our 11 active studies in Cardiovascular Genetics.  REDCap is a very user-friendly platform that is free for researchers and clinicians to use which has allowed us to design and develop research databases and registries for all of our projects. (REDCap is supported by the Advanced Biomedical IT Core within UITS Research Technologies.)  It allows users to import CSV formatted data directly into REDCap as well as export the data out into various stats packages for data analysis. Additionally, since REDCap is browser-based and used over a very large international network, we are able to use it for our multicenter studies as well.

  • What are the computing challenges you face in your work? How does REDCap alleviate those challenges?

Genetics research is constantly evolving and requires flexibility in our data capture.  REDCap allows us to make changes to our databases whenever necessary without having to wait in a queue for database staff to approve requested changes, implement the new forms, and then of course charge for expenses incurred.  We also frequently utilize the import and export features within REDCap. Being able to utilize Excel for data changes and then upload the entire file into REDCap can save a lot of time. REDCap provides the data security and backup we need as a research team dealing with protected health information (PHI)  that Excel spreadsheets cannot offer. Then when we are ready to start data analysis, REDCap allows us to easily export our data into more sophisticated software for data analysis which is very important as the data manipulation and analysis features within REDCap are limited.

Dr. Ware in her lab

  • What would you like the general public to know about your work?

Translational genetics research is extremely complex and time consuming.  It requires the help from altruistic families, dedicated clinical staff, and knowledgeable researchers to generate the genetic and phenotypic data required to make new discoveries.  All of the diseases we study are heterogeneous so large cohorts are required in order to find similarities within it.

  • What do you think are the most important insights your research offers society?

Presently, we can help families better understand why they are affected by these diseases and who else in the family is at risk and should be screened. This can also be very helpful for future family planning.  As we continue to develop our understanding of these conditions, knowing the genetic cause will be imperative in understanding patient-specific risks and will guide the treatment and potential prevention of these diseases.

  • What’s most misunderstood about your research?

It is very important for both study participants and non-genetics providers to understand that involvement in our research should not be considered a replacement for clinical genetics care.  Although many of our studies involve biospecimen collection followed by genetic testing, it does not mean the patient should not be seen in a clinical setting by a geneticist and/or genetic counselor.  Our aims and goals in research are different from those of a clinician and it is very important to us as researchers that we do not negatively affect the clinical care of the patients who choose to enroll in our studies.