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Steven J Scheinman, M.D.
Professor, Medicine
Professor, Pharmacology
Dean, College of Medicine
1257 Weiskotten Hall
Upstate Medical University
750 East Adams Street
Syracuse, NY 13210
Lab/Professional Web Site
| Education and Clinical Training
M.D.: 1977, Yale University School of Medicine
Postdoctoral Fellow: Yale University School of Medicine
Postdoctoral Fellow: SUNY Health Science Center at Syracuse
Residency: 1980, Yale-New Haven Hospital
Residency: 1981, University Hospital, SUNY Health Science Center at Syracuse
Clinical Specialty
Nephrology, Certified: 1984
Clinical Department/Section Affiliations
Medicine/Nephrology
Clinical Interests Kidney stones, disorders of fluids, electrolytes, and minerals; general nephrology
Research Program and Department Affiliations
Biomedical Sciences Program
Medicine
Pharmacology
Research Interests Molecular genetics of nephrolithiasis and tubulointerstitial disease
Research Abstract
Our laboratory is taking several approaches to identify genes that contribute to kidney stones and renal failure. These include studies of monogenic diseases, several of which we have identified and defined clinically, and characterized through positional cloning and molecular genetic approaches. Through studies in an extended pedigree from northern New York State, we reported a new disease, known as X-linked recessive nephrolithiasis (Dent disease), and mapped the gene, CLCN5, for which 70 distinct mutations have been found in over 100 families worldwide. We recently reported that this gene only accounts for 60% of cases of Dent disease, and that another 15% result from mutation in the OCRL1 gene. Our studies in a family from central New York with hereditary hypomagnesemia led to discovery of mutations in a mitochondrial tRNA associated with hypertension and hypercholesterolemia. We are currently mapping a hereditary syndrome of tubulointerstitial nephritis and end-stage renal failure, which links with a region on chromosome 1 where we are exploring candidate genes.
A complementary project is to map the genes for the complex phenotype of hypercalciuria in a rat model. We are performing quantitative trait locus (QTL) mapping using an intercross between hypercalciuric and normal rat strains. We have identified 6 loci that have significant linkage with hypercalciuria in this model, have produced a congenic rat strain around one these regions that will allow more refined genetic localization, with plans to produce congenics for additional loci. The goal is to that identify the responsible genes and determine how they contribute to rat and human hypercalciuria.
Selected references
Hoopes RR, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ.
Dent Disease with Mutations in OCRL1. American Journal of Human Genetics. 2005 Feb;76(2):260-7.
Wilson FH, Hariri A, Farhi A, Zhao H, Petersen KF, Toka HR, Nelson-Williams C, Raja KM, Kashgarian M, Shulman GI, Scheinman SJ, Lifton RP.
A cluster of metabolic defects caused by mutation in a mitochondrial tRNA.
Science. 2004 Nov 12;306(5699):1190-4
Hoopes RR Jr, Raja KM, Koich A, Hueber P, Reid R, Knohl SJ, Scheinman SJ. Evidence for genetic heterogeneity in Dent's disease.
Kidney International. 2004 May;65(5):1615-20
Hoopes RR Jr, Reid R, Sen S, Szpirer C, Dixon P, Pannett AA, Thakker RV, Bushinsky DA, Scheinman SJ. Quantitative trait loci for hypercalciuria in a rat model of kidney stone disease. Journal of the American Society of Nephrology. 2003 Jul;14(7):1844-50
Scheinman, S.J. X-linked hypercalciuric nephrolithiasis: Clinical syndromes and chloride channel mutations. Kidney International 53:3-17, 1998.
Publications - link to PubMed
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Additional Information
Dean, College of Medicine
Professor, Pharmacology
This profile was last updated on 11/09/2009
A short link is available for this profile:
http://www.upstate.edu/pharm/faculty.php?ID=scheinms
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