Kidney disease

We work in close partnership with the Broad’s Center for the Development of Therapeutics (CDoT) and several Broad platforms (Genomics, Proteomics, Genetic Perturbation, Metabolomics, Cell Painting), as well as numerous collaborators around the world.  

The team, led by Anna Greka, is deeply focused on: 

• Leveraging insights from rare, monogenic disorders to drive therapeutic hypotheses and ultimately address complex diseases, such as diabetic kidney disease;
• Harnessing the power of new tools, such as single cell genomics and pluripotent stem cell technologies, to fuel our understanding of disease pathways and circuits in rare and complex diseases;
• Validating genomic discoveries with detailed mechanistic in vitro and in vivo studies to uncover opportunities for the development of precision therapies.

Our work on focal segmental glomerulosclerosis (FSGS) and nephrotic syndrome, the most common cause of kidney failure in children and adolescents, led to the discovery of a TRPC5 ion channel inhibitor as the first targeted, mechanism-based therapeutic strategy for these debilitating diseases.

Another area of intense focus is MUC1 kidney disease (MKD), a rare genetic condition with no cure. We have developed detailed mechanistic in vitro and in vivo studies aimed at understanding how mutant MUC1 causes the disease. We have also launched a full scale effort to identify therapeutic leads for the treatment of MKD.

Our highly interdisciplinary team of students, postdoctoral fellows, and staff scientists brings a unique combination of expertise in cell and ion channel biology, biochemistry, stem cell biology, imaging, in vivo pharmacology, and computational biology to bear to solve complex scientific problems.