My research is focused on understanding the genetic basis for kidney structure and function. Our long term objective is to identify specific genes and dysregulated pathways underlying these disorders in order to facilitate the development of new diagnostic tools and therapies. We are specifically investigating two complex phenotypes in humans: IgA nephropathy, the most common form of glomerulonephritis, and congenital malformations of the urinary tract, the main cause pediatric end-stage kidney failure. As genomics technologies have matured, results can be incorporated into clinical practice for rapid diagnosis of known disorders or for discovery of novel molecular syndromes. We also demonstrated that genetic syndrome can be diagnosed through the application of sequencing technologies and that the availability of a precise genomic diagnosis and incorporation of decision support tools into Electronic Health Records will facilitate a personalized evaluation and early intervention and increasingly, targeted therapies.
Ali Gharavi, MD