Faina Schwartz, Ph.D.
Associate Professor, Department of Medicine, Boston University School of Medicine.
1990-94 Postdoctoral, Harvard Medical School & Children’s Hospital, Boston, MA
1988-90 Postdoctoral, Whitehead Institute for Biomedical Research, Cambridge, MA
1988 Ph.D., Genetics, University of Illinois, Chicago, IL
1981 B.A., Biology, Washington University, St. Louis, MO
Research in my laboratory is focused on the genetics of common disorders of aging, with an emphasis on the mitochondrial genetics. One project investigates the role of the mitochondrial genome in hypertension – an age-related disorder afflicting a large proportion of the elderly population in the US and worldwide. In collaboration with investigators from the Framingham Heart Study and the University of Southern California, we are carrying out a systematic analysis of the mitochondrial genome sequences in participants of the Framingham Heart Study and in subjects collected through the BU Hypertension SCOR using a combination of molecular, genetic, and biostatistical approaches to identify variants contributing to blood pressure homeostasis. More recently, we began to explore the impact of mitochondrial gene variation on other complex phenotypes, such as longevity and neurodegeneration.
Yang Q, Kim SK, Sun F, Cui J, Larson MG, Vasan SR, Levy D, Schwartz F: Maternal influence on blood pressure suggests involvement of mitochondrial DNA in the pathogenesis of hypertension: the Framingham Heart Study. J Hypertens. 25: 2067-2073, 2007
Duka A, Schwartz F, Duka I, Johns C, Melista E, Gavras I, Gavras H. A novel gene (Cmya3) induced in the heart by Angiotensin II-dependent but not salt-dependent hypertension in mice. Am J Hypertens 19:275-281, 2006.
Schwartz F, Duka A, Sun F, Cui J, Manolis A, Gavras H. Mitochondrial Genome Mutations in Hypertensive Individuals. Am J Hypertens 17(7):629-635, 2004.
Li X, Fischel-Ghodsian N, Schwartz F, Yan Q, Friedman RA, Guan M-X. Biochemical characterization of the mitochondrial tRNASer(UCN) T7511C mutation associated with nonsyndromic deafness. Nucleic Acids Res. 32(3):867-77, 2004.
Schwartz F and Gavras H. Genetics of Human Essential Hypertension. Invited Review. Rev Bras Hipertens 11(2):88-93, 2004.
Schwartz F, Duka A, Duka I, Cui J, Gavras H. Novel Targets of Angiotensin II Regulation in Mouse Heart Identified by Serial Analysis of Gene Expression. Am J Physiol Heart Circ Physiol. 287:H1957-1966, 2004.
Schwartz F, Duka A, Triantafyllidi E, Johns C, Duka I, Cui J, Gavras H. Serial analysis of gene expression in mouse kidney following angiotensin II administration. Physiol Genomics 16:90-98, 2003.
Sun F, Cui J, Gavras H, Schwartz F. A Novel Class of Tests for the Detection of Mitochondrial DNA Mutation Involvement in Diseases. Am J Hum Genet 72:1515-1526, 2003.
DeStefano AL, Gavras H, Heard N, Bursztyn M, Manolis A, Farrer LA, Baldwin CT, Gavras I, Schwartz F. Maternal Component in the Familial Aggregation of Hypertension. Clin Genet 60(1):13-22, 2001.
Schwartz F, Baldwin C, Baima J, Gavras H. Mitochondrial DNA mutations in patients with orthostatic hypotension. Am J Med Genet 86:145-150, 1999.
Baldwin C, Schwartz F, Bursztyn M, Baima J, DeStefano AL, Martel T, Gavras I, Handy D, Joost O, Farrer L, Gavras H. Identification of a polymorphic glutamic acid stretch in the ?2B adrenergic receptor and lack of association with essential hypertension. Am J Hypertens. 1999 Sep;12(9 Pt 1):853-7.
Baima J, Nicolaou M, Schwartz F, DeStefano A, Bursztyn M, Handy D, Manolis A, Gavras I, Farrer L, Baldwin C, Gavras H. Evidence for linkage between essential hypertension and a putative locus on human chromosome 17. Hypertension 34:4-7, 1999.
DeStefano A, Bursztyn M, Gavras I, Handy D, Joost O, Martel T, Nicolaou M, Schwartz F, Streeten D, Farrer L, Baldwin C, Gavras H: Autosomal dominant Orthostatic hypotensive disorder maps to chromosome 18q. Am J Hum Genet 63: 1425-1430, 1998.
Schwartz F and Ota T: The 239AB gene on chromosome 22: a novel member of an ancient gene family. Gene 194:57-62, 1997.
Schwartz F and Alexander M: The 239FB WAGR gene and a related gene 239AB: two members of an ancient gene family expressed in brain. Am J Hum Genet 59:898, 1996.
Schwartz F, Knoll J, Eisenman R, Bruns GAP: cDNA sequence, genomic organization and evolutionary conservation of a novel gene from the WAGR region. Genomics 29:526-532, 1995.
Schwartz F, Neve R, Eisenman R, Gessler M, Bruns GAP: A WAGR region gene between PAX6 and FSHB expressed in fetal brain. Human Genetics 94:658-664, 1994.
Schwartz F, Maeda N, Smithies O, Hickley R, Edelman W, Skoultchi A, Kucherlapati R: A dominant positive and negative selectable gene for use in mammalian cells. Proc Natl Acad Sci USA 88: 10416-10420, 1991.
Song K-Y, Schwartz F, Maeda N, Smithies O, Kucherlapati R: Accurate modification of a chromosomal plasmid by homologous recombination in human cells. Proc Natl Acad Sci USA 84: 6820-6824, 1987.
Ayares D, Spencer J, Schwartz F, Morse B, Kucherlapati R: Homologous recombination between autonomously replicating plasmids in mammalian cells. Genetics 111:375-388, 1985.
Kim KH, Schwartz F, Fuchs E: Differences in keratin synthesis between normal epithelial cells and squamous cell carcinomas are mediated by vitamin A. Proc Natl Acad Sci USA 81:4280-4284, 1984.