Martin Russell Pollak, M.D.
Title George C. Reisman Professor of Medicine Institution Beth Israel Deaconess Medical Center Address Beth Israel Deaconess Medical Center Farr 8 330 Brookline Ave Boston MA 02215
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Overview
We are working to identify genes involved in the development of focal segmental glomerulosclerosis (FSGS). FSGS is a common form of renal disease, seen both as an isolated entity and as a consequence of other primary processes. Towards this goal, blood for DNA extraction and clinical analyses have been performed on members of approximately 125 families with an inherited form of this condition, as well as over a hundred sporadic cases. We identified the first FSGS locus on chromosome 19q13. We have recently found mutations in ACTN4, encoding alpha-actinin-4, as the cause of disease in FSGS-1 linked families. Because FSGS is also a cause of renal dysfunction secondary to multiple other diseases, we are examining the role of this FSGS gene as a candidate renal dysfunction susceptibility gene. Current efforts are also underway to understand the function of ACTN4 and the mechanism of this form of kidney disease. We have developed “knockout” and “knockin” mouse models. We are working to identify additional human FSGS genes by genetic linkage and candidate gene approaches.
A second major focus of study is the extracellular calcium receptor. Previously, I cloned the human calcium-sensing receptor (CaR) gene and demonstrated that CaR defects cause three distinct disorders of extracellular calcium homeostasis. Our current work utilizes mouse models to further define the role of CaR. Mating mice heterozygous CaR "knockout" mice with mice with a targeted disruption of the preproPTH gene generates mice with both mutations. Mice homozygous for both "knockout" alleles, unlike the CaR-deficient mice, are viable because they will be incapable of developing the otherwise lethal hypercalcemia characteristic of CaR-deficient mice. We are using these mice to study the role of CaR in the intestine, in the kidney, as well as in the brain and bone marrow. In addition, we are using Cre/Lox technology to develop tools to allow tissue specific inactivation of CaR.
Mentoring
FSGS-associated mutations in TRPC6 potentially disrupt membrane turnover of the channel by the multivesicular body degradation pathway
Part Time, 10/28/08 - 06/12/09
Research
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RC2DK122397
(HILDEBRANDT, FRIEDHELM ;POLLAK, MARTIN R. ;SAMPSON, MATTHEW GORDON;SANNA-CHERCHI, SIMONE)
Aug 15, 2020 - May 31, 2025
Integrating large scale genomics and functional studies to accelerate FSGS/NS discovery
Role: Principal Investigator
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R01MD014726
(FRIEDMAN, DAVID J ;POLLAK, MARTIN R.)
Feb 14, 2020 - Dec 31, 2024
APOL1 Nephropathy: Linking Genetics and Mechanisms
Role: Co-Principal Investigator
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R01MD007898
(POLLAK, MARTIN R.)
Jul 3, 2013 - Jan 31, 2019
Molecular Mechanism of APOL1 Associated Kidney Disease
Role: Co-Principal Investigator
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R01MD007092
(POLLAK, MARTIN R.)
Apr 1, 2012 - Jan 31, 2022
APOL1 variants: Understanding the basis of disparities in rates of kidney disease
Role: Principal Investigator
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R24DK092158
(POLLAK, MARTIN R.)
Sep 19, 2011 - Aug 31, 2013
Clinical characterization of the APOL1-associated phenotype
Role: Co-Principal Investigator
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R01DK083592
(MILLER, RICHARD TYLER)
Sep 30, 2010 - Jul 31, 2017
Biophysical Properties of Renal Glomeruli and Podocytes
Role: Co-Principal Investigator
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R01DK088826
(HIGGS, HENRY N;POLLAK, MARTIN R.)
Jul 15, 2010 - Jan 31, 2025
Biological Mechanism of INF2-mediated FSGS
Role: Principal Investigator
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R56DK054931
(POLLAK, MARTIN R.)
Jul 1, 2008 - Feb 28, 2009
Molecular Genetics of Inherited Focal Glomerulosclerosis
Role: Principal Investigator
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P01DK070756
(CURHAN, GARY C.)
Sep 24, 2007 - May 31, 2013
The Pathobiology of Nephrolithiasis
Role: Co-Principal Investigator
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R01DK066017
(POLLAK, MARTIN R.)
Jan 1, 2004 - Nov 30, 2008
Characterization of alpha-actinin-4 deficient mice
Role: Principal Investigator
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R37DK059588
(POLLAK, MARTIN R.)
Jun 1, 2001 - May 31, 2021
Biological Mechanism of FSGS-1
Role: Principal Investigator
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R01DK059588
(POLLAK, MARTIN R.)
Jun 1, 2001 - Jun 30, 2016
Biological Mechanism of FSGS-1
Role: Principal Investigator
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R01DK054931
(POLLAK, MARTIN R.)
Jul 1, 1999 - Mar 31, 2020
The Genetic Basis of FSGS
Role: Principal Investigator
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R01DK052479
(POLLAK, MARTIN R.)
Sep 26, 1997 - Aug 31, 2004
MOUSE EXTRACELLULAR CALCIUM SENSING RECEPTOR
Role: Principal Investigator
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K11DK002138
(POLLAK, MARTIN R.)
Sep 1, 1992 - Aug 31, 1997
HOMOLOGOUS RECOMBINATION TO INACTIVATE MOUSE ANP
Role: Principal Investigator
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T32DK007199
(POLLAK, MARTIN R.)
Jul 1, 1977 - Jun 30, 2023
Research Training in Nephrology
Role: Principal Investigator
Bibliographic
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