Michael A. Hauser, PhD, is a Professor of Medicine in the Section of Medical Genetics, with secondary appointments in the Departments of Ophthalmology, Molecular Genetics and Microbiology, and Biostatistics and Bioinformatics. Dr. Hauser's laboratory studies a variety of Mendelian and complex diseases including multiple types of glaucoma, post-traumatic stress disorder (PTSD), ALS, and limb girdle muscular dystrophy.
Primary open angle glaucoma: Dr. Hauser was co-PI of the NEIGHBOR genome wide association study, that included more than 7000 Caucasian glaucoma cases and controls. This study showed genome wide significant association in the SIX6 gene. Sequencing of large numbers of cases and controls identified both non-synonymous coding variants and regulatory variants. These variants are now being functionally investigated in vitro and in vivo in the zebrafish model organism. Dr. Hauser and his longtime collaborator Dr. R Rand Allingham (Director of the Duke Glaucoma Service) are also investigating glaucoma in African Americans and other populations of African ancestry.
Exfoliation glaucoma: In collaboration with Dr. Yutao Liu and Dr. Rand Allingham, Dr. Hauser's lab is currently exploring the role of a long non-coding RNA in the regulation of LOXL1, the only gene associated with exfoliation glaucoma. Primary congenital glaucoma: Dr. Hauser is now using whole exome sequencing to identify mutations that give rise to the Mendelian disease primary congenital glaucoma (PCG). PCG patients and their parents are being recruited to this study by Dr. Sharon Freedman, Chief of the Duke Pediatrics and Strabismus service. : Collaborators at the Durham Veteran's Administration have extensively phenotyped PTSD cases and and controls from the Iraq and Afghanistan conflicts. Dr. Hauser and colleagues Jean Beckham, Allison Ashley-Koch and Yutao Liu have performed a GWAS of 2000 individuals from this dataset and are currently evaluating associated genetic variants. DNA methylation is likely to play a role in PTSD and methylation studies are ongoing.
Amyotrophic lateral sclerosis (ALS): Dr. Hauser and colleagues Liu and Ashley-Koch have performed a GWAS on ALS cases included in the VA CSP#500A ALS Registry. This study revealed copy number variants (CNVs) that are associated with ALS status. Current work includes follow up of those copy number variants.
Limb Girdle muscular dystrophy: Dr. Hauser 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 is being used to develop and test possible therapeutic strategies involving virally mediated delivery of hsRNA constructs to muscle, to knock down total MYOT expression. Whole exome sequencing has been applied to 11 additional muscular dystrophy families, identifying multiple disease-causing mutations.
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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