The identification of genes responsible for human diseases has made significant contribution to the progress of medical research. Using genetic techniques, it is possible to identify mutations that alter the function of a protein and result in human pathologies. Such discoveries provide invaluable insights into the molecular defects and the mechanisms underlying diseases and may open the way to future diagnostic methods and therapies.
Research in my laboratory aims to identify genes that when mutated result in the development of renal pathologies by studying families in which the disease is genetically transmitted. Our research is particularly focused on autosomal recessive forms of polycystic kidney disease and familiar forms of renal stones disease, hypercalciuria and nephrocalcinosis.
Using gene mapping techniques I recently identified a gene (NPHP7/GLIS2) that when mutated causes nephronophthisis, a rare autosomal recessive pathology that affects children and young adults. Nephronophthisis is characterized by the development of cysts in the kidneys and results in progressive deterioration of the renal function and renal insufficiency. Uncovering the role of GLIS2 in nephronophthisis has contributed new information about the mechanisms that result in the development of fibrosis in this affection.
In my laboratory we also apply molecular and cellular biology techniques to define the function of the protein products of mutated genes and their role in the pathologic process, with the objective of clarifying the mechanisms that from the genetic mutation lead to the development of the disease.