In addition to providing services, the Molecular Genetics and Proteomics Core is engaged in three developmental projects. The goal of these studies is to create new or enhanced services within the core.
Mutation screening of PKD1 and PKD2 by next-generation sequencing
Goal: Improve next-generation sequencing methods to analyze PKD1 and PKD2.
An optimized next-generation sequencing protocol is expected to provide a rapid, cost-effective means of mutation screening for large clinical populations — and serve as an alternative to conventional sequencing. The project will work to optimize the platforms employed, enrichment methods, multiplexing procedures and data analysis.
Custom single-nucleotide polymorphism (SNP) array development for autosomal dominant PKD (ADPKD) prognostics
Goal: Generate a custom SNP array to provide a genotype-associated prognostic indicator for individual patients.
Analysis of candidate genes — and the whole genome, through genome-wide association studies (GWAS) — have the potential to identify genetic variants associated with more severe renal disease and other outcomes in ADPKD. Many candidate studies have been undertaken and a GWAS will begin in 2011.
As data becomes available, it will be collected and used to generate a custom SNP array to rapidly score these genomic risk factors in patient populations. Once the array is developed, it will be offered for analysis in large ADPKD populations, especially those involved in clinical trials.
Urine proteomic analysis
Goal: Develop a rapid screen to analyze urine biomarkers associated with outcomes in ADPKD.
Little is currently known about urine biomarkers associated with outcomes in ADPKD, but several studies to identify such markers from urine supernatant and exosomes are under way. As data from these studies becomes available, it will be collected and used to develop a rapid assay that can be applied to large clinical populations.