A. Hauser, PhD, is an Associate Professor in
the Section of Medical Genetics, Department of Medicine.
He also has secondary appointments in the Department of Ophthalmology, Molecular Genetics and Microbiology, and Biostatistics and Bioinformatics. Dr. Hauser's primary interest is in the identification of susceptibility genes in complex disease. 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's research is currently focused on understanding the genetics of glaucoma in African Americans. He 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. Dr. Hauser is actively involved in graduate education at Duke University, and is currently serving as the Director of Graduate Studies for the University Program in Genetics and Genomics.
PhD, 1990, Biochemistry and Molecular Biology, Johns Hopkins University, Baltimore, MD
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
Medicine 8(3):253-261, 2002.
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
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.
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
Molecular Genetics 12(6):1-7, 2003.
For a complete list of Dr. Hauser's publications, click
Center for Human Genetics
DUMC Box 3445
Durham, NC 27710
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