Sampson Lab | Biobank to Illuminate the Genomics of Kidney Diseases (BIGKiDs)

Biobank to Illuminate the Genomics of Kidney Diseases (BIGKiDs) is motivated to use human genomics to illuminate the causes of pediatric kidney diseases, with a particular focus on nephrotic syndrome. By recruiting affected children — and collecting their biosamples and clinical data — we aim to map the genetic basis of their conditions using statistical genetics, and link these genetic changes to biological mechanisms using systems genetics and their clinical consequences using genetic epidemiology. We believe that the result of this, via a more specific understanding of each child’s disease and ultimately the development of targeted treatments and cures, will be improved health for children with nephrotic syndrome. This is the essence of “precision nephrology.”

To help accomplish this, we established the BIGKiDs cohort in the Division of Nephrology at Boston Children’s Hospital. Our inclusion criteria is anyone with childhood-onset nephrotic syndrome. This includes:

  • patients who respond to steroids and other immunosuppressant medications
  • patients who are resistant to steroids and other immunosuppressant medications
  • those without a family history of nephrotic syndrome
  • those with other affected family members

Our goal is to recruit every person with childhood-onset nephrotic syndrome seen at Boston Children’s Hospital and, in close collaboration with other interested physicians and families, recruit other patients with childhood-onset nephrotic syndrome cared for outside of Boston Children’s. BIGKiDs participants donate a blood or saliva sample for DNA studies. We may ask some participants to also collect a urine sample. Finally, for those patients at Boston Children’s who will be getting a kidney biopsy, we will ask for consent to obtain a small extra piece of tissue for research.

As we describe below, in addition to discoveries made by our group, we envision BIGKiDs serving as a resource for the broader community. This includes working with individual investigators; kidney disease study networks with which we have long-term involvement, such as NEPTUNE and CureGN; and nephrotic syndrome advocacy groups like NephCure Kidney International. Providing this opportunity to interested experts and stakeholders will allow us to parallelize and accelerate genomic discovery toward increased molecular understanding, treatments, and cures for nephrotic syndrome.

For more information about BIGKiDs, contact us at bigkids.biobank@childrens.harvard.edu.

BIGKiDs’ initial aims

  • establish a pediatric-focused multiomic biobank for nephrotic syndrome that is dexterous, durable, and useful to a diversity of investigators
  • collaborate with clinicians and scientists at Boston Children's, and others across the country and world, on patient recruitment and analysis
  • integrate the omics data with deep phenotypic data to:
    • 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, in the implicated cell-type ("Medicines")
    • credit to the International Common Disease Alliance for the "MMM" terminology
  • openly share samples, data, and credit to the greatest extent possible
  • serve as a nidus for training of the next generation of #kidneyomics investigators