Genetics Program Graduate Students

Cruz Corchado, Johnny

Isabela, Puerto Rico
Univeristy of Puerto Rico - Aguadilla - BS, Biolog-Genetics, 2008

Research Focus

Dense Deposit Disease (DDD), also known as Membranoproliferative Glomerulonephritis Type II (MPGN2), is a rare kidney disease that leads to renal failure in 50% of affected patients.  Its genetics are complex but underlying disease pathogenesis is uncontrolled activation of the alternative pathway (AP) of the complement system. My research is focused on defining the genetic background and changes that permit AP dysregulation to occur. To identify the genetic variants associated with DDD, I am completing several different analyzes.  First, I am analyzing exomes of twin pairs discordant for the disease; second, I am analyzing sequence data from ~85 genes that may play a role in DDD; and third, I am using small families with multiple affected persons to complete segregation analysis, which we couple with targeted-genome capture and rare variant detection in sporadic DDD patients. This genetic aim is complemented by functional studies of the complement system.  In addition, I am looking at variations in CR1 using MLPA to determine whether specific isoforms of CR1 are more common in DDD patients.  Lastly, I am using a mouse model of DDD to test new gene therapies.  The long term goal of my research is to improve the diagnosis of DDD and to develop an effective treatment for patients with this disease.