Ann Moser is a research associate in neurology and co-director of the Peroxisomal Diseases Laboratory at Kennedy Krieger Institute and Johns Hopkins University.
Ann Moser received a bachelor’s degree in biochemistry in 1961 from Radcliffe College. During the time she was an undergraduate, she was a technician in Dr. Konrad Bloch’s laboratory at Harvard University. After working as a technician in laboratories in different hospitals, Moser joined the John F. Kennedy Institute (later Kennedy Krieger Institute) in 1976 as a senior technician. In 1982, she became an assistant in neurology. Since 1991, Moser has been working as a research associate in neurology. She is a co-director of the Peroxisomal Diseases Laboratory in the Hugo W. Moser Research Institute at the Kennedy Krieger Institute.
The peroxisomal diseases laboratory receives approximately 100 blood samples per week for the analysis of total lipid fatty acids, including the very long chain fatty acids, essential fatty acids and branched chain fatty acids. Individuals with increased plasma, very long chain fatty acids and or branched chain fatty acids have disorders of peroxisomal metabolism. The peroxisomal disorders include patients with X-linked adrenoleukodystrophy (ALD), the Zellweger spectrum disorders, rhizomelic chondrodysplasia punctata and adult Refsum’s disease. Under the leadership of Ali Fatemi, we are measuring the plasma and red blood cell fatty acids to follow the dietary therapy of peroxisomal disorders with oils such as Lorenzo’s oil and fish or algae oils (high w3 fatty acid oils).
We are assisting Paul Watkins with high through-put drug screening by LC-MSMS to discover new treatments for ALD. For research collaborators from the Kennedy Krieger Institute, Johns Hopkins and/or medical centers outside of Baltimore, we measure plasma and red blood cell fatty acids in patients with other diseases such as retinitis pigmentosa, heart disease, cystic fibrosis, type 2 diabetes, chronic seizure disorders, Downs syndrome, ADHD, Alzheimer disease, kidney transplant recipients and autism.
In addition to our human fatty acid analyses, we provide fatty acid analyses for various transgenic mouse models including the Zellweger mouse, the X-linked adrenoleukodystrophy mouse and the obese mouse. We and our colleagues developed and validated the newborn screening test for ALD. Together with the MD State newborn screening laboratory, we completed the pilot study of 5000 newborns with no positives. In December 2013, New York state started ALD newborn screening. As of August 2016, with approximately 630,000 newborns screened, they have identified 22 males and 20 females with ALD.
In August 2015 the Secretary’s Advisory Committee voted to add ALD newborn screening to the recommended uniform screening panel in the USA. Connecticut started screening for ALD in December 2015 and California began ALD newborn screening in September 2016. Other states will add ALD newborn screening once legislation, budgetary, and follow-up resources are in place.
Falkenberg KD, Braverman NE, Moser AB, Steinberg SJ, Klouwer FCC, Schlüter A, Ruiz M, Pujol A, Engvall M, Naess K, van Spronsen F, Körver-Keularts I, Rubio-Gozalbo ME, Ferdinandusse S, Wanders RJA, Waterham HR (2017). Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder. Am J Hum Genet. 101(6), 965-976.
Ribbens JJ, Moser AB, Hubbard WC, Bongarzone ER, Maegawa GH (2014). Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease. Mol Genet Metab. 111(2), 172-83.
Miyazaki C, Saitoh M, Itoh M, Yamashita S, Miyagishi M, Takashima S, Moser AB, Iwamori M, Mizuguchi M (2013). Altered phospholipid molecular species and glycolipid composition in brain, liver and fibroblasts of Zellweger syndrome. Neurosci Lett. 552, 71-5.
Moser AB, Hey J, Dranchak PK, Karaman MW, Zhao J, Cox LA, Ryder OA, Hacia JG (2013). Diverse captive non-human primates with phytanic acid-deficient diets rich in plant products have substantial phytanic acid levels in their red blood cells. Lipids Health Dis. 12, 10.
Braverman NE, Moser AB (2012). Functions of plasmalogen lipids in health and disease.Biochim Biophys Acta. 1822(9), 1442-52.
Sandlers Y, Moser AB, Hubbard WC, Kratz LE, Jones RO, Raymond GV (2012). Combined extraction of acyl carnitines and 26:0 lysophosphatidylcholine from dried blood spots: prospective newborn screening for X-linked adrenoleukodystrophy. Mol Genet Metab. 105(3), 416-20.
Itoyama A, Honsho M, Abe Y, Moser A, Yoshida Y, Fujiki Y (2012). Docosahexaenoic acid mediates peroxisomal elongation, a prerequisite for peroxisome division. J Cell Sci. 125(Pt 3), 589-602.
Itzkovitz B, Jiralerspong S, Nimmo G, Loscalzo M, Horovitz DD, Snowden A, Moser A, Steinberg S, Braverman N (2012). Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3.Hum Mutat. 33(1), 189-97.
Moser AB, Steinberg SJ, Watkins PA, Moser HW, Ramaswamy K, Siegmund KD, Lee DR, Ely JJ, Ryder OA, Hacia JG (2011). Human and great ape red blood cells differ in plasmalogen levels and composition. Lipids Health Dis. 10, 101.
Paker AM, Sunness JS, Brereton NH, Speedie LJ, Albanna L, Dharmaraj S, Moser AB, Jones RO, Raymond GV (2010). Docosahexaenoic acid therapy in peroxisomal diseases: results of a double-blind, randomized trial. Neurology. 75(9), 826-30.
Braverman N, Zhang R, Chen L, Nimmo G, Scheper S, Tran T, Chaudhury R, Moser A, Steinberg S (2010). A Pex7 hypomorphic mouse model for plasmalogen deficiency affecting the lens and skeleton. Mol Genet Metab. 99(4), 408-16.
Yakunin E, Moser A, Loeb V, Saada A, Faust P, Crane DI, Baes M, Sharon R (2010). alpha-Synuclein abnormalities in mouse models of peroxisome biogenesis disorders. J Neurosci Res. 88(4), 866-76.
Watkins PA, Moser AB, Toomer CB, Steinberg SJ, Moser HW, Karaman MW, Ramaswamy K, Siegmund KD, Lee DR, Ely JJ, Ryder OA, Hacia JG (2010). Identification of differences in human and great ape phytanic acid metabolism that could influence gene expression profiles and physiological functions. BMC Physiol. 10, 19.
Hubbard WC, Moser AB, Liu AC, Jones RO, Steinberg SJ, Lorey F, Panny SR, Vogt RF Jr, Macaya D, Turgeon CT, Tortorelli S, Raymond GV (2009). Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Mol Genet Metab. 97(3), 212-20.
Yik WY, Steinberg SJ, Moser AB, Moser HW, Hacia JG (2009). Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. Hum Mutat. 30(3), E467-80.
Steinberg SJ, Snowden A, Braverman NE, Chen L, Watkins PA, Clayton PT, Setchell KD, Heubi JE, Raymond GV, Moser AB, Moser HW (2009). A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts. J Inherit Metab Dis. 32(1), 109-19.
Savransky V, Jun J, Li J, Nanayakkara A, Fonti S, Moser AB, Steele KE, Schweitzer MA, Patil SP, Bhanot S, Schwartz AR, Polotsky VY (2008). Dyslipidemia and atherosclerosis induced by chronic intermittent hypoxia are attenuated by deficiency of stearoyl coenzyme A desaturase. Circ Res. 103(10), 1173-80.
Eichler FS, Ren JQ, Cossoy M, Rietsch AM, Nagpal S, Moser AB, Frosch MP, Ransohoff RM(2008). Is microglial apoptosis an early pathogenic change in cerebral X-linked adrenoleukodystrophy? Ann Neurol. 63(6), 729-42.
Alexander JW, Goodman HR, Succop P, Light JA, Kuo PC, Moser AB, James JH, Woodle ES(2008). Influence of long chain polyunsaturated fatty acids and ornithine concentrations on complications after renal transplant. Exp Clin Transplant. 6(2), 118-26.
Moser HW, Moser AB, Hollandsworth K, Brereton NH, Raymond GV (2007). "Lorenzo's oil" therapy for X-linked adrenoleukodystrophy: rationale and current assessment of efficacy. J Mol Neurosci. 33(1), 105-13.
Ferdinandusse S, Denis S, Hogenhout EM, Koster J, van Roermund CW, IJlst L, Moser AB, Wanders RJ, Waterham HR (2007). Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency. Hum Mutat. 28(9), 904-12.
Lu JF, Barron-Casella E, Deering R, Heinzer AK, Moser AB, deMesy Bentley KL, Wand GS, C McGuinness M, Pei Z, Watkins PA, Pujol A, Smith KD, Powers JM (2007). The role of peroxisomal ABC transporters in the mouse adrenal gland: the loss of Abcd2 (ALDR), Not Abcd1 (ALD), causes oxidative damage. Lab Invest. 87(3), 261-72.
Raymond GV, Jones RO, Moser AB (2007). Newborn screening for adrenoleukodystrophy: implications for therapy. Mol Diagn Ther. 11(6), 381-4.
Rauschka H, Colsch B, Baumann N, Wevers R, Schmidbauer M, Krammer M, Turpin JC, Lefevre M, Olivier C, Tardieu S, Krivit W, Moser H, Moser A, Gieselmann V, Zalc B, Cox T, Reuner U, Tylki-Szymanska A, Aboul-Enein F, LeGuern E, Bernheimer H, Berger J (2006). Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype.Neurology. 67(5), 859-63.
Hubbard WC, Moser AB, Tortorelli S, Liu A, Jones D, Moser H (2006). Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings. Mol Genet Metab. 89(1-2), 185-7.
Powers JM, Pei Z, Heinzer AK, Deering R, Moser AB, Moser HW, Watkins PA, Smith KD(2005). Adreno-leukodystrophy: oxidative stress of mice and men. J Neuropathol Exp Neurol. 64(12), 1067-79.
Moser HW, Raymond GV, Lu SE, Muenz LR, Moser AB, Xu J, Jones RO, Loes DJ, Melhem ER, Dubey P, Bezman L, Brereton NH, Odone A (2005). Follow-up of 89 asymptomatic patients with adrenoleukodystrophy treated with Lorenzo's oil. Arch Neurol. 62(7), 1073-80.
Steinberg S, Chen L, Wei L, Moser A, Moser H, Cutting G, Braverman N (2004). The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum. Mol Genet Metab. 83(3), 252-63.
Berson EL, Rosner B, Sandberg MA, Weigel-DiFranco C, Moser A, Brockhurst RJ, Hayes KC, Johnson CA, Anderson EJ, Gaudio AR, Willett WC, Schaefer EJ (2004). Clinical trial of docosahexaenoic acid in patients with retinitis pigmentosa receiving vitamin A treatment. Arch Ophthalmol. 122(9), 1297-305.
Matsumoto N, Tamura S, Furuki S, Miyata N, Moser A, Shimozawa N, Moser HW, Suzuki Y, Kondo N, Fujiki Y (2003). Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. Am J Hum Genet. 73(2), 233-46.
Setchell KD, Heubi JE, Bove KE, O'Connell NC, Brewsaugh T, Steinberg SJ, Moser A, Squires RH Jr (2003). Liver disease caused by failure to racemize trihydroxycholestanoic acid: gene mutation and effect of bile acid therapy. Gastroenterology. 124(1), 217-32.
Steinberg SJ, Raymond GV, Braverman NE, Moser AB, Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K(2000). Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum . , .
Braverman NE, Moser AB, Steinberg SJ, Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K (2000). Rhizomelic Chondrodysplasia Punctata Type 1 . ,.