Harvard Catalyst Profiles

The research we conduct in the Sampson Lab for Kidney Genomics (http://sampsonlab.org @thesampsonlab) is built on the overarching belief that discovering the genomic drivers of proteinuric kidney disease/nephrotic syndrome will ultimately improve the health of children and adults with this condition. As such, our projects span the arc of a Precision Medicine approach to nephrotic syndrome, including genomic discovery using GWAS, multiomic integration with single cell RNA-seq and ATAC-seq, development of polygenic risk scores, epidemiologic modeling of the clinical impact of genetic drivers of disease, and development of computable phenotypes. We conduct our research using patient samples from nephrotic syndrome cohorts as well as from hospital- and population-based biobanks. Two of our main conditions of focus are APOL1 mediated kidney disease and immunosuppressive sensitive nephrotic syndrome. Some of our recent and ongoing projects include a GWAS of nephrotic syndrome, building a high-resolution kidney eQTL map incorporating single cell ATAC-seq, discovering genetic and transcriptomic modifiers of APOL1 kidney disease, using the Mass General Brigham and BCH biobank to build a computable phenotype of nephrotic syndrome, characterizing the impact of nephrin variants on kidney traits using 1.4 million people across 5 biobanks, and using kidney RNA-seq data to diagnose NS patients with rare, highly penetrant genetic forms of their disease. There are exciting and active projects in each of these areas, and the student and I would discuss those available at the time we meet. We can design projects for those more interested in computational biology to those more interested in epidemiology, and many in between. In terms of expected role, I would like student to take the lead on their project to the extent that time allows, with substantial assistance from the other members of our lab. As such, the student would have a role in shaping the hypotheses of the project, developing a study design, analyzing existing data or those we are newly generating, and preparing the results for presentation in the form of talks, abstracts, and papers. We collectively have expertise in genomics, computational biology, biostatistics, and epidemiology, so the student would have substantial support and is not required to have experience in any of these areas. But I do expect the student to have substantial enthusiasm and lots of intellectual curiosity.