Successes

Core Faculty

Michael A. Hauser, PhD, is an Associate Professor in the Section of Medical Genetics, Department of Medicine, and in the Department of Ophthalmology. Dr. Hauser's primary interest is in ocular genetics. Genomic linkage analysis at the Center for Human Genetics has identified multiple linkage peaks in primary open angle glaucoma (POAG) and age related macular degeneration (AMD). Dr. Hauser is using a combination of approaches to identify susceptibility genes with these linkage regions. Dr. Hauser also has an extensive research interest in muscular dystrophy. He has identified mutations in the myotilin gene as the cause of limb girdle muscular dystrophy 1A (LGMD1A), and constructed mouse models that recapitulate many of the pathological features of human LGMD1A. This model system will help clarify the role of the myotilin protein in normal muscle function, and will be used to develop and test possible therapeutic strategies. Analysis of 11 additional muscular dystrophy families is currently underway. Dr. Hauser's lab is also involved in investigations into the genetic etiology of Parkinson disease, post-tramatic stress disorder in US veterans, amylotrophic lateral sclerosis, and non-alcoholic fatty liver disease.

PhD, 1990, Biochemistry and Molecular Biology, Johns Hopkins University, Baltimore, MD

Selected Publications

Age-Related Macular Degeneration
Haines JL, Hauser MA, Schmidt S, Scott WK, Olson, LM, Gallins P, Spencer KL, Kwan SY, Noureddine M, Gilbert JR, Schnetz-Boutaud N, Agarwal A, Postel EA, Pericak-Vance MA. Complement factor H variant increases the risk of age-related macular degeneration.  Science, Vol 308, Issue 5720, 419-421, 15 April 2005.

Duchenne Muscular Dystrophy
Harper SQ, Hauser MA, DelloRusso C, Duan D, Crawford RW, Phelps SF, Harper HA, Robinson AS, Engelhardt JF, Brooks SV, Chamberlain JS. Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy. Nature Medicine 8(3):253-261, 2002.

Glaucoma
Allingham RR, Wiggs, JL, Hauser, ER, Larocque-Abramson KR, Santiago-Turla C, Broomer B, Del Bono EA, Graham FL, Haines JL, Pericak-Vance MA, Hauser, MA. Early adult-onset POAG linked to 15q11-13 using ordered subset analysis. Invest. Ophthalmol. Vis. Sci. 46: 2002-2005.

Wiggs JL, Allingham RR, Hossain A, Kern J, Auguste J, DelBono EA, Broomer B, Lennon- Graham F, Hauser M, Pericak-Vance MA, Haines JL. Genome-wide scan for adult onset primary open angle glaucoma. Human Molecular Genetics, 9(7): 1109-1117, 2000.

Limb-Girdle Muscular Dystrophy
Hauser MA, Conde CB, Kowaljow V, Zeppa G, Taratuto AL, Torian UM, Vance JM, Pericak-Vance MA, Speer MC, Rosa AL. Myotilin mutation found in second LGMD1A pedigree. American Journal of Human Genetics 71:1428-1432, 2002.

Hauser MA, Horrigan SK, Salmikangas P, Vles KD, Tim RW, Torian UM, Taivainen U, Bartoloni L, Dancel R, Gilchrist JM, Stajich JM, Gaskell, PC, Gilbert JR, Vance, JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC. Myotilin is mutated in limb girdle muscular dystrophy 1A. Human Molecular Genetics, 9:2141-2147, 2000.

Parkinson Disease
Hauser MA, Li YJ, Xu H, Noureddine MA, Shao YS, Gullans SR, Scherzer CR, Jensen RV, McLaurin AC, Gibson JR, Scott BL, Jewett RM, Stenger JE, Schmechel DE, Hulette CM, Vance JM. Expression profiling of substantia nigra in Parkinson disease, progressive supranuclear palsy, and frontotemporal dementia with parkinsonism. Arch Neurol. 2005 Jun;62(6):917-21.

Hauser MA, Li YJ; Takeuchi S, Walters R, Noureddine M, Maready M, Darden T, Hulette C, Martin E, Hauser E, Xu H, Schmechel D, Stenger J, Dietrich, F; Vance JM. Genomic convergence: Identifying candidate genes for Parkinson's disease by combining serial analysis of gene expression and genetic linkage. Human Molecular Genetics 12(6):1-7, 2003.

For a complete list of Dr. Hauser's publications, click here.

Contact at:
Center for Human Genetics
DUMC Box 3445
Durham, NC 27710
Phone: 1-919-684-3508
Fax: 1-919-684-0919
E-mail: hause007@chg.duhs.duke.edu

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