Rukhsar Sultana | Research Project Manager

We are interested in investigating the underlying functional mechanisms of CAKUT (Congenital Anomalies of the Kidney and Urinary Tract). Patients with CAKUT present with fewer nephrons, the functional unit of the kidney. The process of how nephrons develop hinges on proper communication between stromal and nephron progenitor cells. As the Project Manager, I oversee and am involved in various projects and collaborations in the lab that investigate this intricate process in the normal and malformed kidney.

I also act as the Lab Manager. In this role, I am involved in lab training, animal colony maintenance, safety and a general resource for the lab.

Caoimhe Costigan | Clinical Fellow

Embryonic renal stroma is marked by the expression of PBX1, a nuclear transcription factor, which regulates many developmental processes. Children with PBX1 variants have syndromic renal anomalies described as CAKUTHED (congenital anomalies of the kidney and urinary tract with or without hearing loss, abnormal ears or developmental delay). I am studying the functional role of PBX1 in human kidney development and maldevelopment using kidney organoid models derived from patient specific urine induced pluripotent stem cells (UiPSCs).

Sara Qubisi | Research Fellow

Kabuki Syndrome (KS) is a genetic disorder caused mainly by de novo mutations in KMT2D or KDM6A and characterized by distinctive facial features, intellectual disabilities, and multisystem malformations including congenital anomalies of the kidneys and urinary tract (CAKUT). I am interested in studying CAKUT underlining mechanisms in Kabuki syndrome (KS) patients utilizing the kidney organoids model derived from KS patients induced pluripotent stem cells (IPSCs).

Robert D'Cruz | Graduate Student

I am interested in studying how aberrant Hedgehog (Hh) signaling contributes to renal malformations. Hh signaling has been shown to play a critical role in renal morphogenesis as alterations in this signaling axis are known to contribute to the pathogenesis of renal developmental abnormalities. My project focuses on two main aims: 1) analyzing the influence of Hh signaling on renal branching, and 2) utilizing kidney organoids to model renal malformations caused by aberrant Hh signaling.

Xiangyue Hu | Graduate Student

I’m interested in the underlying molecular mechanisms of CAKUT disorders (Congenital Anomalies of the Kidney and Urinary Tract). My project focuses on Integrin-linked Kinase (ILK), which controls branching morphogenesis during kidney development. Recently, two missense variants of ILK have been identified from patients with CAKUT disorders. Previous studies in our lab have demonstrated that these variants are associated with renal malformation by disrupting a series of signaling pathways. My goal is to characterize the signaling role of these ILK variants in renal-urinary tract malformation.

Dina Greenberg | Graduate Student

Pallister-Hall Syndrome (PHS) is a rare disease characterized by a diverse spectrum of malformations, including congenital anomalies of the kidney and urinary tract (CAKUT). However, only a subset of patients with PHS have CAKUT. PHS is caused by truncating variants of the Hedgehog signaling effector GLI3. I am investigating GLI3 variants found in PHS patients; my goal is to profile patient-specific variants through 1) biochemical and 2) human kidney organoid modelling. This will allow us to better understand the mechanisms underlying variable penetrance of CAKUT in PHS.

Jon Lacanlale | Graduate Student

I am interested in understanding the molecular and cellular mechanisms of CAKUT (Congenital Anomalies of Kidney and Urinary Tract) with a particular focus on Ureteropelvic Junction Obstruction (UPJO). Patients with UPJO have a blockage at the junction connecting the kidney and ureter, which subsequently results in hydronephrosis due to urine build-up. Previous work in our lab has demonstrated the importance of Hedgehog (Hh) signaling and recently, TGFß signaling, in the development of this phenotype. My project is focused on elucidating the mechanism of the Hh-TGFß signaling axis with regards to UPJO formation by temporally and spatially investigating the progenitor that gives rise to the nephrogenic and stromal compartments of the kidney.

Jasmine Bhatti | Graduate Student

The Iroquois Homeobox Factors (Irx) comprise a gene family that is essential for tissue patterning and organogenesis. While we know that these genes are expressed within the kidney, their role in renal development, particularly within the mammalian kidney, has yet to be fully characterized. My project leverages reverse genetics to corroborate the expression patterns of the Irx genes within the embryonic kidney, and its respective cell lineages. Renal phenotypes emerging from the genetic deletion of Irx genes will also be established. Collectively, this data will generate a profile that will help determine what functional role Irx genes have in regards to renal development, and identify prospective downstream signaling axes that may induce these effects.

Barry Jiang | Graduate Student

I am interested in studying how aberrant stromal derived factor 1 (Sdf-1, also known as Cxcl12) signaling from the renal stroma contribute to renal development abnormalities. Cxcl12 signaling is known to mediate multiple functions, such as survival, proliferation, and chemotaxis, within numerous cell lines such as tumor cells, immune cells, and neurons. Furthermore, Cxcl12/Cxcr4 is shown to be expressed within renal stromal cells and regulated renal vasculature development. As such, my project focuses on the effect of stromal Cxcl12 signaling kidney development, specifically ureteric branching morphogenesis and nephrogenesis.