Division of Nephrology
Bomback Research Team
Our goal is to identify genes and biological pathways for the development of kidney failure. Our major discovery efforts are focused on the genetics of IgA nephropathy, the most common glomerulonephritis and the genetics of kidney and the urinary tract (CAKUT), the most common cause of kidney failure in children. In parallel, we study the applications of genomic medicine to clinical care for patients with kidney disease.
Recent advances in genome sequencing have provided fundamental insights into many diseases, enabling patient-targeted surveillance, therapy, prognosis, and counseling. While this led to widespread enthusiasm about the potential of genomics to transform clinical care, many challenges still need to be resolved before cost-effective clinical sequencing becomes routine. Gharavi’s lab has been investigating many aspects of these challenges, and when in 2019 The Center for Precision Medicine and Genomics (CPMG) was established under the leadership of Dr. Gharavi, the group joined its efforts to continue addressing challenges of genomic medicine. Through this tight fruitful collaboration, we continue genomic investigation of kidney disorders.
GeneLiFT: A novel test to facilitate rapid screening of genetic literacy in a diverse population undergoing genetic testing. June 2021.
With the broader introduction of genomic medicine in research and clinical care, an increasing number of persons are offered genetic testing. Many factors, including genetic literacy, may impact the utilization of genetic results by patients and their families. We developed a rapid, self-administered measure of genetic literacy, called Genetic Literacy Fast Test (GeneLiFT), which will allow future research to efficiently assess the role of genetic literacy on the clinical impact of genetic testing.
Vesicoureteral reflux (VUR), the retrograde flow of urine from the bladder towards the kidneys, caused by malfunction at the vesicoureteral junction is associated with progressive renal disease and is a common cause of febrile urinary tract infection (UTI) and pediatric kidney failure. VUR has a prevalence of 1-2% in European populations Familial aggregation, with reported occurrence rate of 27-51% among siblings and 66% among offspring of affected individuals, supports a hereditary basis. We conducted the largest VUR copy number variant analysis (CNV) and genome-wide association study (GWAS) to-date, accounting for multiple modes of inheritance and sex- specific effects in VUR. Our dataset included participants from major national cohorts such as RIVUR and CKiD.
Kidney transplantation is the best treatment for end-stage kidney failure, but rejection by the recipient’s immune system remains a major problem. In collaboration with the Kiryluk lab, we studied whether genetic mismatch between donor and recipient can explain kidney transplant rejection.
Exome sequencing (ES) is quickly emerging as a first-line diagnostic tool in clinical medicine, but its utility has not been investigated for the majority of constitutional disorders in adults, including for chronic kidney disease (CKD), which collectively affects more than 1 in 10 individuals globally. Thus, we performed ES in a combined cohort of 3,315 ethnically diverse patients with all-cause CKD, 91.6% of whom were adults, reflecting the demographics of the greater CKD patient population.
See a complete list of publications in Pubmed.
Ali Gharavi, MD
Nick Steers, PhD
Hila Milo Rasouly, PhD
Hilda Elena Fernandez, MD
Thomas Hays, MD, PhD
Jordan G. Nestor, MD
Sarath Babu Krishna Murthy
Enrico Cocchi, MD
Mark D Elliott, MD FRCPC
Maddalena Marasa, MD
Rafael Gras Pena,PhD
Maria Mercedes Morban
Rachel A. Mufson
Studies & Eligibility
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.
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 email@example.com
The Kidney Genetics Clinic utilizes a multidisciplinary team of clinicians and genetic counselors, as well as state of the art diagnostic techniques, to provide comprehensive genetic services for adult patients with rare and inherited forms of kidney disease.
These services include: Comprehensive medical evaluation for genetic forms of kidney disease
- Ordering and interpretation of genetic test results
- Pre-and post-genetic testing consent and counseling
- Guidance for medical management and follow-up care
- Referrals to other medical specialists to help address the unique medical needs of our patients
- Genetic counseling and testing for at-risk family members
- Genetic counseling and testing for living kidney donors
We have pre- and post-doctoral positions available for highly qualified candidates interested in mammalian genetics and genomics. Prior experience in molecular genetics, statistics or bioinformatics is preferred. for inquiries, please email firstname.lastname@example.org by including your CV.
You can support our research program by making a tax-deductible donation. You will receive a thank-you letter confirming receipt of your contribution.
For more information about donations, please contact us at (212) 851-5556 or email Ali Gharavi.
To donate, please make a check payable to “Columbia University Division of Nephrology” and note separately the Researcher or Faculty member in whose name you wish to make the gift.