Anthony Donsante, PhD

    Instructor

    Emory University Department of Neurosurgery

    Education

    • BS, Biology, Case Western Reserve University , 1998
    • BS, Mathematics, Case Western Reserve University , 1998
    • PhD, Molecular Genetics, Washington University in St. Louis , 2006
    • Postdoctoral Fellowship, National Institute of Child Health and Human Development, 2012
    • Postdoctoral Fellowship, Emory University , 2014

    Biography

    Honors

    • NIH Fellows Award for Research Excellence (FARE) 2010
    • PAS Young Investigator's Travel Awards Program, 2009
    • Travel Award from the American Society of Gene Therapy, 2009
    • American Society for Human Genetics Postdoctoral Translational Award, 2007

     

    Memberships

    • American Society for Gene and Cell Therapy

    Research

    Dr. Donsante's research focuses on the development of treatments of neurodegenerative diseases, particularly the testing of novel gene therapies for disorders such as amyotrophic lateral sclerosis and Menkes disease. He also studies the use of artificial conduits for nerve repair with collaborators at Georgia Tech.

    Publications

    • Donsante A, Vogler C, Muzyczka N, Crawford JM, Barker J, Flotte T, Campbell- Thompson M, Daly T, and Sands MS. Observed Incidence of Tumorigenesis in Long-term Rodent Studies of rAAV Vectors. Gene Ther. 2001 8(17): 1343-1346.
    • Lin D, Donsante A, Macauley S, Levy B, Vogler C, Sands MS. Central Nervous System-directed AAV2/5-Mediated Gene Therapy Synergizes with Bone Marrow Transplantation in the Murine Model of Globoid-cell Leukodystrophy. Mol Ther. 2007 15(1): 44-52.
    • Donsante A, Levy B, Vogler C, Sands MS. Clinical Response to Persistent, Low-level Beta-glucuronidase Expression in the Murine Model of Mucopolysaccharidosis type VII.  J Inherit Metab Dis. 2007 30(2): 227-238.
    • Donsante A, Tang J, Godwin SC, Holmes CS, Goldstein DS, Bassuk A, Kaler SG. Differences in ATP7A Gene Expression Underlie Intra-familial Variability in Menkes Disease/Occipital Horn Syndrome.  J Med Genet. 2007 44(8): 492-497.
    • Donsante A, Miller DG, Li Y, Vogler C, Brunt EM, Russell DW, Sands MS. AAV Vector Integration Sites in Mouse Hepatocellular Carcinoma. Science. 2007 Jul 27;317(5837): 477.
    • Kaler SG, Homes CS, Goldstein DS, Liew CJ, Sato S, Tang J, Godwin SC, Donsante A, Patronas M, Anderson S, Hoel J. Neonatal Diagnosis and Treatment of Menkes Disease.  N Engl J Med 2008 358(6): 605-614. 
    • Tang J, Donsante A, Desai V, Patronas N, Kaler SG Clinical Outcomes in Menkes Disease Patients with a Copper-responsive ATP7A Mutation, G727R.  Mol Genet Metab 2008 95(3): 174-181. 
    • Kaler SG, Tang J, Donsante A, Kaneski CR. Translational Read-through of a Nonsense Mutation in ATP7A Impacts Treatment Outcome in Menkes Disease. Ann Neurol. 2009 65(1): 108-113. 
    • Desai V, Donsante A, Swoboda KJ, Martensen M, Thompson J, and Kaler SG. Favorably Skewed X-inactivation Accounts for Neurological Sparing in Female Carriers of Menkes Disease. Clin Genet. 2010 79(2): 176-182.
    • Donsante A, Johnson P, Jansen LA, Kaler SG. Somatic Mosaicism in Menkes Disease Suggests Choroid Plexus-mediated Copper Transport to the Developing Brain. Am J Med Genet A. 2010 152A(10): 2529-2534. 
    • Kaler SG, Liew CJ, Donsante A, Hicks JD, Sato S, and Greenfield JC. Molecular Correlates of Epilepsy in Early Diagnosed and Treated Menkes Disease. J Inherit Metab Dis. 2010 33(5): 583-589. 
    • Donsante A, Yi L, Zerfas PM, Brinster LR, Sullivan P, Goldstein DS, Prohaska J, Centeno JA, Rushing E, and Kaler SG. ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model. Mol Ther. 2011 19: 2114-2123. 
    • Hicks JD, Donsante A, Pierson TM, Gillespie MJ, Chou DE, Kaler SG. Increased frequency of congenital heart defects in Menkes disease. Clin Dysmorphol. 2012 21(2): 59-63.
    • Yi L, Donsante A, Kennerson ML, Mercer JF, Garbern JY, Kaler SG. Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy. Hum Mol Genet. 2012 21(8): 1794-1807.
    • Huppke P, Brendel C, Korenke GC, Marquardt I, Donsante A, Yi L, Hicks JD, Steinbach PJ, Wilson C, Elpeleg O, Møller LB, Christodoulou J, Kaler SG, Gärtner J. Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase. Hum Mutat. 2012 33(8): 1207-1215.
    • Schoonveld C, Donsante A, del Gaudio D, Waggoner D, Das S, Kaler SG. Prenatal diagnostic conundrum involving a novel ATP7A duplication.  Clin Genet. 2013 84(1): 97-98. 
    • Donsante A, Sullivan P, Goldstein DS, Brinster LR, Kaler SG. L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse model.  Ann Neurol. 2013 73(2): 259-265.
    • Haddad MR, Donsante A, Zerfas P, Kaler SG. Fetal Brain-directed AAV Gene Therapy Results in Rapid, Robust, and Persistent Transduction of Mouse Choroid Plexus Epithelia.  Mol Ther Nucleic Acids. 2013 2: e101.
    • McEachin ZT, Donsante A, Boulis N. Gene Therapy for the Treatment of Neurological Disorders: Amyotrophic Lateral Sclerosis.  Methods Mol Biol. 2016 1382: 399-408.
    • Donsante A, McEachin Z, Riley J, Leung CH, Kanz L, O'Connor DM, Boulis NM. Intracerebroventricular delivery of self-complementary adeno-associated virus serotype 9 to the adult rat brain.  Gene Ther. 2016 23(5): 401-407.
    Review Articles: 
    • Wagner JL, O'Connor DM, Donsante A, Boulis NM. Gene, Stem Cell, and Alternative Therapies for SCA 1.  Front Mol Neurosci. 2016 9: 67.
    • Donsante A, Boulis NM. Progress in gene and cell therapies for the neuronal ceroid lipofuscinoses.  Expert Opin Biol Ther. 2018 in press
    Book Chapters:
    • Donsante A, Urquia L, Boulis NM (2016). Stem Cells for Amyotrophic Lateral Sclerosis.  In: Mark H. Tuszynski (Ed.), Translational Neuroscience.  New York, New York: 
    • Donsante (2017). Gene Therapy for Amyotrophic Lateral Sclerosis: Therapeutic Transgenes.  In: Nicholas Boulis, Deirdre O’Connor, and Anthony Donsante (Eds.), Molecular and Cellular therapies for Motor Neuron Diseases.  Atlanta, GA: Elsevier.

    Books Edited and Written:

    • Nicholas Boulis, Deirdre O’Connor, and Anthony Donsante (Eds.; 2017), Molecular and Cellular therapies for Motor Neuron Diseases. Atlanta, GA: Elsevier.