The Gharavi lab is pursuing multiple local and multicenter studies to investigate the genetic causes of kidney diseases. We are also conducting several genetic studies generated through the Precision Medicine Initiative. In particular, we are currently enrolling participants in the following studies:

• CureGN study: We are a major site for the CureGN study, an NIH-funded multicenter five-year cohort study of IgA nephropathy, Focal Segmental Glomerulosclerosis, Minimal Change Disease and Membranous nephropathy. We will follow patients longitudinally to better understand the causes of disease, response to therapy, and disease progression, with the ultimate objective to cure glomerulopathies.

• Genetics of Chronic Kidney Diseases: The goal of this study is to identify genetic factors predisposing to any kind of chronic kidney diseases. Following an initial focus on IgA nephropathy, Congenital abnormalities of the kidney and the urinary tract (CAKUT) and Vescicouretral reflux (VUR), we will be expanding our areas of interests to a broader spectrum of kidney diseases. This includes any type of glomerular diseases and tubulo-interstitial kidney disease. We are also one of the few centers across the world investigating the pathogenesis of the C3 glomerulopathy and Dense Deposit Disease (DDD), a sub-type of membrano-proliferative glomerulonephritis (MPGN).

• RenaCARE: Chronic kidney disease (CKD) affects more than 10% of the global population, and approximately 25% of those patients have a family history of kidney disease. Exome sequencing yields a genetic diagnosis in 9.3% of cases. Natera offers Renasight™, a next generation sequencing (NGS) multi-gene mutation assay, which may be used to confirm or reclassify a clinical diagnosis, identify target therapies, and provide insights for genetic counseling, family planning and clinical trial access. The purpose of this study is to assess the clinical utility of Renasight in patients with CKD.

• Genetic Studies of Constitutional Disorders: The aim of this project is to identify genes and genomic disorders associated with constitutional disorders. To achieve this goal we are enrolling adult and pediatric patients with constitutional disorders to a genetic biobank linked to in depth clinical information. We are recruiting patients with various types of disorders across a wide spectrum of clinical domains, and their family members when possible. Clinical data are collected from patients’ medical records and genetic data including WES/WGS data, large-scale genotype data are generated. Identification of gene(s) associated with constitutional disorders will provide insight in the biology of these conditions. Moreover, it will provide the opportunity to develop novel diagnostic and therapeutic tools.

• All of Us: The All of Us Research Program is a national effort to uncover paths toward delivering precision medicine by studying one million or more people living in the United States. All of Us aims to accelerate research and improve health by taking into account individual differences in lifestyle, environment, and biology.

Eligibility

We would like to invite you, your child, or another family member for our study if you have been diagnosed with any kind of kidney disease, in particular if you have one or more of the following conditions:

• Positive family history of kidney disease
• Diagnosis of kidney disease at a young age
• Kidney disease of unknown origin
• Congenital abnormalities of the kidney and the urinary tract (CAKUT) and Vescicouretral reflux (VUR)
• IgAN Nephropathy or Henoch-Schonlein Purpura
• Nephrotic syndrome
• C3 glomerulopathy (C3GN), Dense Deposit Disease (DDD) or membrano-proliferative glomerulonephritis (MPGN)

A signed consent form and a blood sample are required to participate in any of the above studies. Samples can be collected during an in-person appointment or can be shipped to our lab. Also as a part of our studies, we offer free clinic consultations for familial forms of kidney disease.

If you are interested in participating in our studies or have any questions, please contact us at cpmg_info@cumc.columbia.edu