Department of Genetics
330 Brookline Avenue, RN 304
Boston, MA 02215
Lab Members: 8 postdoctoral fellows, 3 technicians, 1 genetic counselor
Visit my lab page here.
My laboratory studies the genetic basis of kidney disease. We are particularly interested in kidney disease characterized by proteinuria and glomerulosclerosis because this phenotype is common and is often seen as a response to forms of injury such as hypertension, diabetes, and HIV infection. We use multiple approaches to this general problem: human genetic studies, cell biology and biochemistry, the development of mouse models, biophysics, etc. We recently identified variants in the APO1 gene that explain the large disparity in rates if kidney disease between people of recent African ancestry and other groups.
Weins A, Schlondorff JS, Nakamura F, Denker BM, Hartwig JH, Stossel TP, Pollak MR. A disease-associated mutant a-actinin-4 reveals a novel mechanism for regulating its F-actin binding affinity. Proc Natl Acad Sci U S A, 2007;104(41):16080-5. PMC2042165
Brown EJ, Schlöndorff JS, Becker DJ, Tsukaguchi H, Uscinski AL, Higgs HN, Henderson JM, Pollak MR. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet. 2010 Jan;42(1):72-6. NIHMSID 159577
Genovese G, Friedman DJ, Ross MD, Lecordier L, Uzureau P, Freedman BI, Bowden DW, Langefeld CD, Oleksyk TK, Knob AU, Bernhardy AJ, Hicks PJ, Nelson GW, Vanhollebeke B, Winkler CA, Kopp JB, Pays E, Pollak MR. Association of Trypanolytic ApoL1 Variants with Kidney Disease in African-Americans. Science 13;329(5993):841-5. PMC ID pending
For a complete listing of publications click here.
Last Update: 7/26/2012