BIGKiDs Study
A biobank to help discover the genomic basis of nephrotic syndrome & proteinuric kidney diseases
BY THE NUMBERS
239
Study Participants
4,974
Individual questions answered
Improving the Health of Children with Nephrotic Syndrome
The Biobank to Illuminate the Genomics of Kidney Diseases (BIGKiDs) study at Boston Children’s Hospital strives to use human genomics to uncover the causes of pediatric kidney diseases, with a specific focus on nephrotic syndrome.
We aim to create a "map" that will pinpoint places in a patient’s DNA that are contributing to, or causing, their proteinuric kidney disease. We then want to connect these genetic changes with the patient’s clinical history and outcomes. Collecting biosamples and health information from patients and families with nephrotic syndrome helps us create this “map” and make these connections.
We hope that mapping these genetic changes will help create a better understanding of why nephrotic syndrome starts and then how it progresses. Furthermore, we want to use this information to develop more accurate diagnosis and targeted treatments and cures, which we hope will help improve health for children with nephrotic syndrome. This is the basis of “precision medicine" which aims to individualize a person’s care based on their genetic signatures.
To help accomplish our mission, we started the BIGKiDs study in the Division of Nephrology at Boston Children’s Hospital. One of our goals is to recruit all interested people with childhood-onset nephrotic syndrome ever seen at Boston Children’s Hospital. Our second goal is to recruit people with childhood-onset nephrotic syndrome from outside of Boston Children’s Hospital, in close partnership with their care providers. Since nephrotic syndrome is a rare disease, we need to bring together as many affected people as possible to make meaningful discoveries.
Research that partners with patients advances scientific discoveries
Supporting the Nephrotic Syndrome Community
Through collaborations, BIGKiDs may also serve as a way to connect the broader community of physicians and scientists interested in genomic discovery and genomic medicine for pediatric nephrotic syndrome. This would include patient recruitment, co-analysis of data, and training of the next generation of #kidneyomics investigators. Providing this opportunity to interested experts and community members will allow us to accelerate genomic discovery towards understanding, treatments, and cures for nephrotic syndrome.
Our Aspirations
We aspire to create a pediatric-focused multiomic biobank for nephrotic syndrome that can help researchers:
discover the genetic contributors to nephrotic syndrome ("Mapping")*
identify the molecular pathways impaired by these genetic changes ("Mechanisms")*
contribute to developing specific therapies targeted against the molecules and pathways contributing to the disease ("Medicines")*
*Credit to the International Common Disease Alliance for the "MMM" terminology