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Research Summary
I am interested in the molecular genetics of renal diseases, in particular glomerular disorders in humans and rodent models.
Research Activities
End-stage renal disease necessitating renal transplantation or dialysis affects one in a thousand Americans. The molecular bases of renal failure are largely unknown but evidence suggests that genetic susceptibility is an important causative factor. By taking advantage of the dense linkage maps of mammalian genomes now available, we can now map genetic loci conferring susceptibility to renal failure in humans or in animal models. The location of the susceptibility gene can be refined by a number of standard methods such as disequilibrium mapping and the gene identified by the mutational analysis of genes located in the mapped interval. The process of gene identification has been greatly facilitated by the availability of the sequence of the human genome. I am specifically interested in two clinical entities:
1- IgA nephropathy is the most common form of glomerulonephritis and a significant cause of renal failure worldwide. Starting with a collection of kindreds with familial disease, we have mapped the first locus for IgA nephropathy to chromosome 6q22-23 and our efforts are now geared towards identifying the underlying genes using approaches such as disequilibrium mapping and sequencing of positional candidates. In addition, mapping projects in newer families recruited are expected to identify additional loci responsible for IgA nephropathy.
2- HIV nephropathy (HIVAN) is the most common cause of renal failure in African American adults after diabetes and hypertension. Familial and ethnic clustering suggest a genetic susceptibility may be involved in the pathogenesis of HIVAN. We are performing mapping studies to identify susceptibility genes to this disease using a transgenic mouse model of HIVAN. We expect that identification of underlying traits will permit elucidation of pathways leading to glomerulosclerosis in humans.
Positions & Appointments
| 2003-present |
Irving Assistant Professor |
Columbia University College of Physicians & Surgeons |
New York, NY |
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Honors and Awards
1995 Young Investigators Award, Eastern Hypertension Society
1997 First Prize Fellow research award, New York /New Jersey National Kidney Foundation
1997 Recognition Award for Young Physician, American Society of Hypertension
2000 Young Investigator Award, Emerald Foundation
2002 Program committee, American Society of Nephrology (Molecular Genetics)
2002-pres Board of directors, American Society of Hypertension, Eastern Chapter
2003 Irving Clinical Scholar Award, Columbia University
2004 Judson Daland Prize for Outstanding Clinical Investigation, American Philosophical Society
2005 National Kidney Foundation Clinical Scientist Award
2005 Editorial Board, Journal of the American Society Nephrology
2005 Ad-Hoc member NIH study section UGKD
Selected Publications:
1. Gharavi AG, Yan Y, Scolari F, Schena FP, Frasca GM, Giggheri GM, Cooper K, Amoroso A, Viola BF, Battini G, Caridi G, Canova C, Farhi A, Subramanian V, Nelson-Williams C, Woodford S, Julian BA,Wyatt RJ, Lifton RP. (2000) IgA nephropathy, the most common cause of glomerulonephritis, is linked to 6q22-23. Nat. Genetics
26:354-7
2. Lifton, RP, Gharavi, AG, Geller DS. (2001) Molecular mechanisms of human hypertension. Cell
104:545-56
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