Michael Arthur Hauser, PhD

Professor in Medicine
Associate Research Professor in Molecular Genetics and Microbiology
Professor in Biostatistics and Bioinformatics
Professor in Ophthalmology
Department / Division:
Medicine / Medicine CHG
2016 Genome Science Research Bldg I
Durham, NC 27710
Office Telephone:
(919) 684-3508
  • PhD, Johns Hopkins University, 1990
Research Interests:
Dr. Hauser has a strong interest in ocular genetics. Genomic studies at the Center for Human Genetics have identified multiple linkage peaks and susceptibility genes in primary open angle glaucoma (POAG) and age related macular degeneration (AMD). In collaboration with Dr. Rand Allingham at the Duke Eye Center, and Dr. Yutao Liu in the Center for Human Genetics, Dr. Hauser is currently conducting an admixture screen to identify susceptibility genes for glaucoma in African Americans and other individuals of African descent. These investigations include large datasets collected in Ghana and Nigeria. A collection of patients from South Africa are being used to dissect the genetics of exfoliation glaucoma.

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. Dr. Hauser has recently received fundingfrom the Muscular Dystrophy Association of America to use whole exome sequencing and functional testing in zebrafish to identify novel mutations that cause muscular dystrophy.

Dr. Hauser is also involved in collaborative investigations into the genetic etiology of post-tramatic stress disorder and amylotrophic lateral sclerosis in US veterans, and non-alcoholic fatty liver disease.
Representative Publications:
  • Scherzer, CR; Eklund, AC; Morse, LJ; Liao, Z; Locascio, JJ; Fefer, D; Schwarzschild, MA; Schlossmacher, MG; Hauser, MA; Vance, JM; Sudarsky, LR; Standaert, DG; Growdon, JH; Jensen, RV; Gullans, SR. Molecular markers of early Parkinson's disease based on gene expression in blood. Proceedings of the National Academy of Sciences of USA. 2007;104:955-960.  Abstract
  • Scott, WK; Schmidt, S; Hauser, MA; Gallins, P; Schnetz-Boutaud, N; Spencer, KL; Gilbert, JR; Agarwal, A; Postel, EA; Haines, JL; Pericak-Vance, MA. Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration. Ophthalmology: Journal of The American Academy of Ophthalmology. 2007;114:1151-1156.  Abstract
  • Shuler, RK; Hauser, MA; Caldwell, J; Gallins, P; Schmidt, S; Scott, WK; Agarwal, A; Haines, JL; Pericak-Vance, MA; Postel, EA. Neovascular age-related macular degeneration and its association with LOC387715 and complement factor H polymorphism. Archives of Ophthalmology. 2007;125:63-67.  Abstract
  • Spencer, KL; Hauser, MA; Olson, LM; Schmidt, S; Scott, WK; Gallins, P; Agarwal, A; Postel, EA; Pericak-Vance, MA; Haines, JL. Protective effect of complement factor B and complement component 2 variants in age-related macular degeneration. Human Molecular Genetics. 2007;16:1986-1992.  Abstract
  • Bowes Rickman, C; Ebright, JN; Zavodni, ZJ; Yu, L; Wang, T; Daiger, SP; Wistow, G; Boon, K; Hauser, MA. Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE. Investigative Ophthalmology and Visual Science. 2006;47:2305-2316.  Abstract
  • Challa, P; Hauser, MA; Luna, CC; Freedman, SF; Pericak-Vance, M; Yang, J; McDonald, MT; Allingham, RR. Juvenile bilateral lens dislocation and glaucoma associated with a novel mutation in the fibrillin 1 gene. Molecular vision. 2006;12:1009-1015.  Abstract
  • Garvey, SM; Miller, SE; Claflin, DR; Faulkner, JA; Hauser, MA. Transgenic mice expressing the myotilin T57I mutation unite the pathology associated with LGMD1A and MFM. Human Molecular Genetics. 2006;15:2348-2362.  Abstract
  • Garvey, SM; Senderek, J; Beckmann, JS; Seboun, E; Jackson, CE; Hauser, MA. Myotilin is not the causative gene for vocal cord and pharyngeal weakness with distal myopathy (VCPDM). Annals of Human Genetics. 2006;70:414-416.  Abstract
  • Hancock, DB; Martin, ER; Fujiwara, K; Stacy, MA; Scott, BL; Stajich, JM; Jewett, R; Li, YJ; Hauser, MA; Vance, JM; Scott, WK. NOS2A and the modulating effect of cigarette smoking in Parkinson's disease. Annals of Neurology. 2006;60:366-373.  Abstract
  • Hauser, MA; Allingham, RR; Linkroum, K; Wang, J; LaRocque-Abramson, K; Figueiredo, D; Santiago-Turla, C; del Bono, EA; Haines, JL; Pericak-Vance, MA; Wiggs, JL. Distribution of WDR36 DNA sequence variants in patients with primary open-angle glaucoma. Investigative Ophthalmology and Visual Science. 2006;47:2542-2546.  Abstract
  • Hauser, MA; Sena, DF; Flor, J; Walter, J; Auguste, J; Larocque-Abramson, K; Graham, F; Delbono, E; Haines, JL; Pericak-Vance, MA; Rand Allingham, R; Wiggs, JL. Distribution of optineurin sequence variations in an ethnically diverse population of low-tension glaucoma patients from the United States. Journal of Glaucoma. 2006;15:358-363.  Abstract
  • Kang, SJ; Scott, WK; Li, YJ; Hauser, MA; van der Walt, JM; Fujiwara, K; Mayhew, GM; West, SG; Vance, JM; Martin, ER. Family-based case-control study of MAOA and MAOB polymorphisms in Parkinson disease. Movement Disorders. 2006;21:2175-2180.  Abstract
  • Postel, EA; Agarwal, A; Caldwell, J; Gallins, P; Toth, C; Schmidt, S; Scott, WK; Hauser, MA; Haines, JL; Pericak-Vance, MA. Complement factor H increases risk for atrophic age-related macular degeneration. Ophthalmology: Journal of The American Academy of Ophthalmology. 2006;113:1504-1507.  Abstract
  • Schmidt, S; Hauser, MA; Scott, WK; Postel, EA; Agarwal, A; Gallins, P; Wong, F; Chen, YS; Spencer, K; Schnetz-Boutaud, N; Haines, JL; Pericak-Vance, MA. Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. The American Journal of Human Genetics. 2006;78:852-864.  Abstract
  • 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. Investigative Ophthalmology and Visual Science. 2005;46:2002-2005.  Abstract
  • 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. 2005;308:419-421.  Abstract
  • 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. Archives of Neurology. 2005;62:917-921.  Abstract
  • Noureddine, MA; Li, YJ; van der Walt, JM; Walters, R; Jewett, RM; Xu, H; Wang, T; Walter, JW; Scott, BL; Hulette, C; Schmechel, D; Stenger, JE; Dietrich, F; Vance, JM; Hauser, MA. Genomic convergence to identify candidate genes for Parkinson disease: SAGE analysis of the substantia nigra. Movement Disorders. 2005;20:1299-1309.  Abstract
  • Noureddine, MA; Qin, XJ; Oliveira, SA; Skelly, TJ; van der Walt, J; Hauser, MA; Pericak-Vance, MA; Vance, JM; Li, YJ. Association between the neuron-specific RNA-binding protein ELAVL4 and Parkinson disease. Human Genetics. 2005;117:27-33.  Abstract
  • Xu, H; Gregory, SG; Hauser, ER; Stenger, JE; Pericak-Vance, MA; Vance, JM; Z├╝chner, S; Hauser, MA. SNPselector: a web tool for selecting SNPs for genetic association studies. Bioinformatics. 2005;21:4181-4186.  Abstract
  • Hauser, ER; Crossman, DC; Granger, CB; Haines, JL; Jones, CJ; Mooser, V; McAdam, B; Winkelmann, BR; Wiseman, AH; Muhlestein, JB; Bartel, AG; Dennis, CA; Dowdy, E; Estabrooks, S; Eggleston, K; Francis, S; Roche, K; Clevenger, PW; Huang, L; Pedersen, B; Shah, S; Schmidt, S; Haynes, C; West, S; Asper, D; Booze, M; Sharma, S; Sundseth, S; Middleton, L; Roses, AD; Hauser, MA; Vance, JM; Pericak-Vance, MA; Kraus, WE. A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study. The American Journal of Human Genetics. 2004;75:436-447.  Abstract
  • Li, YJ; Hauser, MA; Scott, WK; Martin, ER; Booze, MW; Qin, XJ; Walter, JW; Nance, MA; Hubble, JP; Koller, WC; Pahwa, R; Stern, MB; Hiner, BC; Jankovic, J; Goetz, CG; Small, GW; Mastaglia, F; Haines, JL; Pericak-Vance, MA; Vance, JM. Apolipoprotein E controls the risk and age at onset of Parkinson disease. Neurology. 2004;62:2005-2009.  Abstract
  • van der Walt, JM; Noureddine, MA; Kittappa, R; Hauser, MA; Scott, WK; McKay, R; Zhang, F; Stajich, JM; Fujiwara, K; Scott, BL; Pericak-Vance, MA; Vance, JM; Martin, ER. Fibroblast growth factor 20 polymorphisms and haplotypes strongly influence risk of Parkinson disease. The American Journal of Human Genetics. 2004;74:1121-1127.  Abstract
  • 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, JE; Dietrich, F; Vance, J. Genomic convergence: identifying candidate genes for Parkinson's disease by combining serial analysis of gene expression and genetic linkage. Human Molecular Genetics. 2003;12:671-677.  Abstract
  • Li, YJ; Oliveira, SA; Xu, P; Martin, ER; Stenger, JE; Scherzer, CR; Hauser, MA; Scott, WK; Small, GW; Nance, MA; Watts, RL; Hubble, JP; Koller, WC; Pahwa, R; Stern, MB; Hiner, BC; Jankovic, J; Goetz, CG; Mastaglia, F; Middleton, LT; Roses, AD; Saunders, AM; Schmechel, DE; Gullans, SR; Haines, JL; Gilbert, JR; Vance, JM; Pericak-Vance, MA; Hulette, C; Welsh-Bohmer, KA. Glutathione S-transferase omega-1 modifies age-at-onset of Alzheimer disease and Parkinson disease. Human Molecular Genetics. 2003;12:3259-3267.  Abstract
  • Bauer, KA; George, TM; Enterline, DS; Stottmann, RW; Melvin, EC; Siegel, D; Samal, S; Hauser, MA; Klingensmith, J; Nye, JS; Speer, MC; Neural Tube Defects Collaborative Group. A novel mutation in the gene encoding noggin is not causative in human neural tube defects. Journal of Neurogenetics (Informa). 2002;16:65-71.  Abstract
  • Challa, P; Herndon, LW; Hauser, MA; Broomer, BW; Pericak-Vance, MA; Ababio-Danso, B; Allingham, RR. Prevalence of myocilin mutations in adults with primary open-angle glaucoma in Ghana, West Africa. Journal of Glaucoma. 2002;11:416-420.  Abstract
  • 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. 2002;8:253-261.  Abstract
  • Hauser, MA; Conde, CB; Kowaljow, V; Zeppa, G; Taratuto, AL; Torian, UM; Vance, J; Pericak-Vance, MA; Speer, MC; Rosa, AL. myotilin Mutation found in second pedigree with LGMD1A. The American Journal of Human Genetics. 2002;71:1428-1432.  Abstract
  • Martin, ER; Scott, WK; Nance, MA; Watts, RL; Hubble, JP; Koller, WC; Lyons, K; Pahwa, R; Stern, MB; Colcher, A; Hiner, BC; Jankovic, J; Ondo, WG; Allen, FH; Goetz, CG; Small, GW; Masterman, D; Mastaglia, F; Laing, NG; Stajich, JM; Ribble, RC; Booze, MW; Rogala, A; Hauser, MA; Zhang, F; Gibson, RA; Middleton, LT; Roses, AD; Haines, JL; Scott, BL; Pericak-Vance, MA; Vance, JM. Association of single-nucleotide polymorphisms of the tau gene with late-onset Parkinson disease. JAMA : the journal of the American Medical Association. 2001;286:2245-2250.  Abstract
  • Hauser, MA; Horrigan, SK; Salmikangas, P; Torian, UM; Viles, KD; Dancel, R; Tim, RW; Taivainen, A; Bartoloni, L; 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. 2000;9:2141-2147.  Abstract
  • Hauser, MA; Robinson, A; Hartigan-O'Connor, D; Williams-Gregory, DA; Buskin, JN; Apone, S; Kirk, CJ; Hardy, S; Hauschka, SD; Chamberlain, JS. Analysis of muscle creatine kinase regulatory elements in recombinant adenoviral vectors. Molecular Therapy. 2000;2:16-25.  Abstract
  • Amalfitano, A; Hauser, MA; Hu, H; Serra, D; Begy, CR; Chamberlain, JS. Production and characterization of improved adenovirus vectors with the E1, E2b, and E3 genes deleted. Journal of virology. 1998;72:926-933.  Abstract
  • Hauser, MA; Amalfitano, A; Kumar-Singh, R; Hauschka, SD; Chamberlain, JS. Improved adenoviral vectors for gene therapy of Duchenne muscular dystrophy. Neuromuscular Disorders. 1997;7:277-283.  Abstract
  • Hauser, MA; Chamberlain, JS. Progress towards gene therapy for Duchenne muscular dystrophy. Journal of Endocrinology. 1996;149:373-378.  Abstract
  • Phelps, SF; Hauser, MA; Cole, NM; Rafael, JA; Hinkle, RT; Faulkner, JA; Chamberlain, JS. Expression of full-length and truncated dystrophin mini-genes in transgenic mdx mice. Human Molecular Genetics. 1995;4:1251-1258.  Abstract
  • Hanzlik, AJ; Osemlak-Hanzlik, MM; Hauser, MA; Kurnit, DM. A recombination-based assay demonstrates that the fragile X sequence is transcribed widely during development. Nature Genetics. 1993;3:44-48.  Abstract
  • Hauser, MA; Scocca, JJ. Site-specific integration of the Haemophilus influenzae bacteriophage HP1. Identification of the points of recombinational strand exchange and the limits of the host attachment site. The Journal of biological chemistry. 1992;267:6859-6864.  Abstract
  • Hauser, MA; Scocca, JJ. Site-specific integration of the Haemophilus influenzae bacteriophage HP1: location of the boundaries of the phage attachment site. Journal of bacteriology. 1992;174:6674-6677.  Abstract
  • Stewart, GD; Hauser, MA; Kang, H; McCann, DP; Osemlak, MM; Kurnit, DM; Hanzlik, AJ. Plasmids for recombination-based screening. Gene. 1991;106:97-101.  Abstract
  • Hauser, MA; Scocca, JJ. Location of the host attachment site for phage HPl within a cluster of Haemophilus influenzae tRNA genes. Nucleic Acids Research. 1990;18:5305.  Abstract
  • Yamazaki, RK; Sax, RD; Hauser, MA. Glucagon stimulation of mitochondrial ATPase and potassium ion transport. FEBS Letters. 1977;75:295-299.  Abstract
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