Michèle M. Sale, PhD
Assistant Professor of Internal Medicine
Section on Endocrinology and Metabolism
Center for Human Genomics
B.Sc. (Biochemistry/Microbiology), 1989 University of Tasmania
B.Sc.(Hons) (Molecular Biology), 1990 University of Tasmania
Ph.D. (Evolutionary and Population Genetics), 1995 University of Tasmania
Postdoctoral training (Molecular Genetics):
1995-1998: Bowman Gray School of Medicine
Research Interests
My research is focused on identifying and evaluating genes that contribute to susceptibility of common, complex diseases. My primary interest is finding genes involved in type 2 diabetes mellitus risk, particularly in the African American population. It is estimated that 13% of African Americans have diabetes, and an African American individual is twice as likely to have diabetes as a Caucasian American of the same age. With a scan of the human genome recently completed in over 250 African American families with diabetes, we have located one region that harbors a diabetes-susceptibility gene and are now honing in on this region. A second project entails investigation of genes involved in homocyst(e)ine metabolism and their contribution to elevated homocyst(e)ine levels and risk of recurrent stroke. The labs in the Center for Human Genomics are equipped with the latest technology for genome scanning, identification of mutations, and evaluation of sequence variants in large population samples. We use a variety of molecular and statistical approaches to discover and assess genetic contributions to these disorders.
Selected Publications
Burdon KP, Wirth GM, Mackey DA, Russell-Eggitt IM, Craig JE, Elder J, Dickinson JL, Sale MM. Investigation of crystallin genes in familial cataract from south-eastern Australia, and report of two disease-associated mutations. British Journal of Ophthalmology 2003; in press.
Sale MM, Hazelwood K, Zimmet PZ, Shaw JE, Stankovich JM, Greenaway TM, Dwyer T. Trends in diabetes management practices of patients from an Australian insulin-treated diabetes register. Diabetic Medicine 2003; in press.
Sale MM, FitzGerald LM, Charlesworth JC, Bowden DW, Rich SS. Evidence for a novel type 1 diabetes susceptibility locus on chromosome 8. Diabetes 2002; 51 Suppl. 3:S316-S319.
Sale MM, Craig JE, Charlesworth JC, FitzGerald LM, Hanson IM, Dickinson JL, Matthews SJ, van Heyningen V, Fingert JH, Mackey DA. Phenotypic variability in a large pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene. Human Mutation 2002; 20:322.
Stankovich JM, Sale MM, Cooley HM, Bahlo M, Reilly A, Dickinson JL, Foote SJ, Jones G. Investigation of linkage to chromosome 2q in osteoarthritis of the hand: no significant linkage in a Tasmanian population. Annals of the Rheumatic Diseases 2002; 61:1081-4.
Rubio JP, Bahlo M, Butzkueven H, van der Mei IAF, Sale MM, Dickinson JL, Groom P, Johnson LJ, Simmons RD, Tait B, Taylor B, Varney M, Dwyer T, Williamson B, Gough NM, Kilpatrick TJ, Speed TP, Foote SJ. Genetic dissection of the human leukocyte antigen region using haplotypes of Tasmanians with multiple sclerosis. American Journal of Human Genetics 2002; 70:1125-1137.
Sale MM, FitzGerald LF, Kagame K, Erdmann I, Craig JE, Dickinson JL, Cooper RL. Investigation of the prevalence of the myocilin Q368STOP mutation in Ugandan glaucoma patients. Ophthalmic Genetics 2002; 23:67-69.
Price JA, Fossey SC, Sale MM, Brewer CS, Freedman BI, Wuerth JP, Bowden DW. Analysis of the HNF4 alpha gene in Caucasian type II diabetic nephropathic patients. Diabetologia 2000; 43:364-372.
Bowden DW, Sale MM, Howard TD, Qadri A, Spray BJ, Rothschild CB, Akots G, Rich SS and Freedman BI. Linkage of genetic markers on human chromosomes 12 and 20 to NIDDM in Caucasian sib pairs with a history of diabetic nephropathy. Diabetes 1997; 46:882-886.