New Research Grant from the National Institutes of Health
We have some exciting news to share! The Chromosome 18 Clinical Research Center (CRC) was just awarded a research grant from the National Institutes of Health (NIH) to enhance the clinical database for the 150 participants who were selected to participate in the NIH funded Gabriella Miller Kids First Pediatric Research Program (GMKF). Two years ago, the CRC was awarded a grant to participate in the GMFK program which provided whole genome sequencing on 150 of our participants who had structural birth defects. The goal of the GMKF program is to identify the underlying genetic causes of structural birth defects.
The structural birth defects within the chromosome 18 cohort included such issues as heart defects, conductive hearing loss, ptosis, cleft palate, dysmyelination of the brain, to name a few. All the other cohorts of participants from other universities have a single structural birth defect. Therefore, the chromosome 18 participants are very different from the other participant groups from other universities. Because the CRC group of participants have a known chromosome abnormality, each participant has the potential to have multiple issues. The chromosome 18 group, as a whole, includes many different structural birth defects. Additionally, because the CRC program is a longitudinal study, there is the potential for understanding the long-term outcomes of the chromosome 18 GMFK participants. For these reasons, the CRC clinical database has the potential to be much more complex and comprehensive than other groups’ databases. The CRC was awarded a 2-year research grant from the NIH to enhance and update the clinical database for those 150 participants.
The project involves CRC staff going through the information in our clinical database and filling out a general health history questionnaire for each of the 150 participants. Then, they will send the pre-filled out questionnaire back to the family who can determine what is missing and what needs updating. The family can then send a Medical Records Release Form to any of their medical provider so that source medical record documentation can be sent to the CRC. One of the challenges of gathering medical information on participants is that the CRC staff do not usually know how many, or to which providers a family sent a record release request. This means the CRC staff do not know if there are records that failed to be received. On the other hand, the participating families do not know if their provider sent the records requested or if the provider sent the appropriate records. This project will close the loop and provide families with feedback on the information the CRC has in the database and will update the medical records database with any new issues. In addition, the project will code each of the medical issues with a universal numerical code that will make the database more easily searchable, allowing us to search and address questions more efficiently.
This grant is great news for the CRC and for our member families. NIH grants are prestigious and highly sought-after in the medical research community. Receiving this NIH grant substantiates the importance of the work we’re doing at the CRC and will allow us to continue researching the underlying genetic causes of structural defects. The outcomes of this project will help us better understand birth defects, their causes, and how to treat them. Moreover, the streamlining of the clinical database as part of this project means that we will be better able to answer questions for members enrolled in the research study.
