Curriculum Vitae_February 2013
BRITT AUBREY JOHNSON, Ph.D., FACMG
Assistant Laboratory Director
Clinical Biochemical Genetics Diagnostic Laboratory
University of Miami Miller School of Medicine
Dr John T. MacDonald Foundation Department of Human Genetics
1601 NW 12th Avenue (D820)
MCCD Room 6006A
Miami, FL 33136
W:(305) 243-5450
BJohnson@med.miami.edu
BOARD CERTIFICATIONS
American Board of Medical Genetics
American Association of Bioanalysts
Clinical Molecular Genetics
Medical Technologist
CLINICAL LICENSES
State of Florida
Director’s License in Molecular Pathology DI44281
State of Florida
Supervisor’s License in Clinical Chemistry DI44281
EDUCATION
Fellowship Clinical Biochemical Genetics, University of Miami, Miami FL
Fellowship Clinical Molecular Genetics, University of California San
Francisco, CA
Postdoctorate Neurology, University of California San Francisco, CA
Ph.D.
Genetics, University of Wisconsin-Madison, Madison WI
B.S.
Genetics, University of Georgia, Athens GA
2011 to 2012
2009 to 2011
2008 to 2011
2008
2003
RESEARCH EXPERIENCE
2008-2011
Postdoctoral Fellow, Department of Neurology, University of California San
Francisco
Advisors: Jorge Oksenberg, PhD and Sergio Baranzini, PhD
Project: Tested candidate genes, previously identified as multiple sclerosis
susceptibility genes in individuals of Northern European descent, in a large
dataset of African Americans. CD6, CLEC16A, EVI5, GPC5, and TYK2 contained
SNPs associated with the disease in African Americans. In addition, RGS1 is
associated with age of onset and TNFRSF1A is associated with disease
progression. We are performing high coverage re-sequencing of all validated
disease genes in African Americans and northern Europeans (affecteds and
controls). High coverage re-sequencing will allow us to identify rare variants that
may contribute to MS susceptibility in African Americans.
Project: MicroRNAs (miRNAs) are short RNAs which modify the expression of
genes in a sequence specific manner. Abnormal expression of miRNA has been
associated with mental retardation, the degeneration of neurons, and even
BRITT AUBREY JOHNSON, PhD, FACMG 2
autoimmune disease. However, the relationship between miRNA expression and
Multiple sclerosis (MS) has not been studied. The purpose of this project is to
investigate patterns of miRNA expression in immune cells from early MS patients
to search for anomalies that can be associated with a patient’s rate of progression.
2003-2008
Ph.D. Dissertator, Department of Genetics, University of Wisconsin-Madison
Advisor: Akihiro Ikeda, DVM, PhD
Thesis Project: Identified the mutated gene, Rs1, responsible for retinal
phenotypes in 44TNJ mice and characterized the effect of this mutation on retinal
synapses. This work demonstrated that Rs1 mutant mice are a good model for
human X-linked retinoschisis. Mapped and characterized the effects of a major
QTL that completely rescues the retinal phenotypes in Rs1 mutant mice.
Investigating the relationship between Retinoschisin (RS1) and type II Collagen
(COL21) in the retina.
Project: Characterized the retinal synapses in Cacna1f mutant mice. These mice
have a spontaneous mutation in the calcium channel at the photoreceptor synapse
that is responsible for neurotransmitter release. The human homologue, when
mutated, is responsible for X-linked congenital stationary night blindness.
2001-2003
Undergraduate Researcher, Department of Genetics, University of Georgia
Advisor: Janet Westpheling, PhD
Project: Investigated the use of transduction in Streptomyces as a means of
combinatorial biosynthesis
ACADEMIC AND PROFESSIONAL HONORS
2012-present Active Candidate Status and Board Eligible for the American Board of Medical
Genetics in Clinical Biochemical Genetics
2011-present Fellow of the American College of Medical Genetics
2011-present Diplomat of the American Board of Medical Genetics in Clinical Molecular
Genetics
2009-2011
NIH Ruth L. Kirschstein Training Program in Medical Genetics
May 2006
ARVO Foundation/Retina Research Foundation/Joseph M. and Eula C. Lawrence
Travel Scholarship
2003-2005
NIH Predoctoral Training Program in Genetics
2002
Center for Undergraduate Research Opportunities Summer Fellowship
PUBLICATIONS
 Johnson BA, Mascher H, Mascher D, Legnini E, Hung CY, Dajnoki A, Chien Y, Maródi L,
Hwu W, Bodamer OA. Analysis of lyso-globotriaosylsphingosine (lyso-Gb3) in dried
blood spots. In press.
 Bodamer OA, Johnson BA, Dajnoki A. Diagnosing lysosomal storage disorders: Fabry Disease.
Current Protocols. In press.
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Legnini E, Orsini JJ, Müehl A, Johnson BA, Dajnoki A, Bodamer OA. Analysis of AcidSphingomyelinase activity in dried blood spots using tandem mass spectrometry. Ann
Lab Med. In press.
McElroy, J, Johnson BA, Oksenberg JR. Copy Number Variation in Pediatric Multiple
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Sclerosis. Mult Scler. Epub Dec 13 [Epub ahead of print]
Johnson BA, Oksenberg JR. The role of genetics in multiple sclerosis, in D Valle et al (eds):
Scriver’s OMMBID, New York, McGraw-Hill, http://www.ommbid.com, in press.
Gourraud PA, McElroy JP, Caillier SJ, Johnson BA, Santaniello A, Hauser SL, Oksenberg
JR. 2011. Aggregation of multiple sclerosis genetic risk variants in multiple and single
case families. Ann Neurol. 69(1):65-74.
Johnson BA, Cole BS, Geisert EE, Ikeda S, Ikeda A. 2010. Tyrosinase is the modifier of
Retinoschisis in mice. Genetics. 186(4): 1337-1344. Epub 2010 Sept 27
Johnson BA, Wang J, Taylor E, Caillier SJ, Herbert J, Khan OA, Cross AH, De Jager PL,
Gourraud PA, Cree BC, Hauser SL, Oksenberg JR. 2010. Multiple sclerosis
susceptibility alleles in African Americans. Genes Immun. (4):343-50. Epub 2009 Oct
29.
Johnson BA, Aoyama N, Friedell NH, Ikeda S, Ikeda A. 2008. Genetic Modification of the
Schisis Phenotype in a Mouse Model of X-Linked Retinoschisis. Genetics. 178:17851794.
Hirasawa M, Xu X, Trask R, Maddatu TP, Johnson BA, Naggert JK, Nishina PM, Ikeda A.
2007. Carbonic Anhydrase Related Protein 8 Mutation Results in Aberrant Synaptic
Morphology and Excitatory Synaptic Function in the Cerebellum. Mol Cell Neurosci.
35:161-170
Johnson BA, Ikeda S, Pinto LH, Ikeda A. 2006. Reduced synaptic vesicle density and
aberrant synaptic localization caused by a splice site mutation in the Rs1h gene. Vis
Neurosci. 23:887-898.
Chang B, Heckenlively JR, Bayley PR, Brecha NC, Davisson MT, Hawes NL, Hirano AA,
Hurd RE, Ikeda A, Johnson BA, Mccall MA, Morgans CW, Nusinowitz S, Peachey NS,
Rice DS, Vessey KA, Gregg RG. 2006. The nob2 mouse, a null mutation in Cacna1f:
Anatomical and functional abnormalities in the outer retina and their consequences on
ganglion cell visual responses. Vis Neurosci. 23:1-14.
PRESENTATION
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Johnson BA, Aoyama N, Ikeda S, Ikeda A. “Genetic Modification of the Schisis Phenotype
in a Mouse Model of X-Linked Retinoschisis.” The Association for Research in Vision
and Ophthalmology Conference, Ft. Lauderdale, FL, USA, presentation number 4035,
May 2008
ABSTRACTS
 Johnson BA, Mascher H, Mascher D, Hung CY, Chien Y, Bodamer OA. Analysis of lysoglobotriaosylsphingosine (lyso-Gb3) for the diagnosis of Fabry disease in dried blood
spots. The Society for Inherited Metabolic Disorders Conference, Charlotte, NC, USA,
March 2012.
 Johnson BA, Legnini E, Orsini JJ, Muehl A, Dajnoki A, Bodamer OA. Analysis of AcidSphingomyelinase Activity in Dried Blood Spots Using Tandem Mass Spectrometry. The
Society for Inherited Metabolic Disorders Conference, Charlotte, NC, USA, March 2012.
BRITT AUBREY JOHNSON, PhD, FACMG 4
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Johnson BA, Gourraud PA, Oksenberg JR. “Analysis of MS Susceptibility in African
Americans. Beyond Replication.” The International Congress of Neuroimmunology,
Sitges, Spain, October 2010.
Ikeda A, Johnson BA, Aoyama N, Ikeda S. “Microarray Analysis of Gene Expression
Changes During Improvement of Schisis in Rs1tmgc1 Mice.” The Association for
Research in Vision and Ophthalmology Conference, Ft. Lauderdale, FL, USA, May 2009
Johnson BA, Ikeda S, Ikeda A. “A Major Genetic Modifier that Affects Schisis and Layer
Disorganization Caused by the Rs1h Mutation in Mice.” ARVO Summer Eye Research
Conference: New Frontiers in Retinal Diseases: Linking Genetics to Molecular Pathways
and Therapeutic Strategies, Monterey, CA, USA, August 2007
Johnson BA, Ikeda S, Ikeda A. “Identification of a major QTL, which modifies the schisis
and layer disorganization phenotypes in Rs1htmgc1 mice.” The Association for Research in
Vision and Ophthalmology Conference, Ft. Lauderdale, FL, USA, May 2007
Johnson BA, Ikeda S, Pinto LH, Ikeda A. “Aberrant Synaptic Localization and Schisis
Caused by a Splice-Site Mutation in the Rs1h Gene.” The Association for Research in
Vision and Ophthalmology Conference, Ft. Lauderdale, FL, USA, May 2006
Johnson BA, Ikeda S, Pinto LH, Ikeda A. “Functional and structural synaptic abnormalities
in ENU-induced 44TNJ mutant mice.” FASEB Summer Research Conference: The
Biology and Chemistry of Vision, Phoenix, AZ, June 2005
Johnson BA, Ikeda S, Pinto LH, Ikeda A. “Synaptic Abnormalities in 44TNJ mice.” The
Association for Research in Vision and Ophthalmology Conference, Ft. Lauderdale, FL,
USA, May 2005
Johnson BA, Ikeda S, Pinto LH, Ikeda A. “Novel Mutation Causes Synaptic Abnormalities
In the Retina” The Laboratory Mouse in Vision Research, Bar Harbor, Maine, USA,
October 2004
SCIENTIFIC TECHNIQUES
 Genetic: gene mapping, positional cloning, mammalian congenic strain production, QTL
analysis, linkage mapping, association mapping, analysis of rare variants
 Molecular: nucleic acid isolation and purification, gel electrophoresis, PCR, reverse
transcription, quantitative real time PCR, sequencing, cloning, southern blot, reverse dot
blot, nanodrop quantitation, and bioanalyzer analysis of RNA
 Biochemical: gas chromatography/mass spectrometry, high performance liquid
chromatography/ tandem mass spectrometry, ion exchange chromatography, western
blot, co-immunoprecipitation, protein purification, enzyme analysis
 Cell Biology: Hematoxylin and Eosin staining, immunohistochemistry with fluorescent
probes on paraffin and cryosections, paraffin and ultra-microtomy, electron microscopy
specimen preparation and staining, flow cytometry, laser capture microdissection
 Imaging and Microscopy: brightfield, epifluorescence, confocal, and transmission electron
microscope experience
 Tissue Culture: experience with mammalian and human cell culture lines, basic adherent
and suspension cell culture techniques, transient transfection, nucleofection, and
immunocytochemistry
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Software: experience using both Mac and PC. Adobe Photoshop, Adobe Illustrator, End
Note, Mac Vector, Map Manager, Microsoft Office suite of programs, Prism, R statistical
software.
TEACHING EXPERIENCE
Fall 2012
Inborn Errors of Metabolism Lecture Series
Spring 2010 Medical Genetics for Genetic counseling students. Guest lecture: Cystic Fibrosis
and Risk Analysis. University of California San Francisco.
Spring 2005 Genetics 466: General Genetics. Duties: Taught 1 discussion section per week,
proctored and graded exams, attended lectures, held weekly office hours, led optional
exam review sessions. University of Wisconsin-Madison
COMMITTEE MEMBERSHIP
2006/2007
Genetics Department Graduate Admissions Committee Member, University of
Wisconsin-Madison
PROFESSIONAL SOCIETIES
2012 -present The American Association of Bioanalysts
2011 -present The American College of Medical Genetics Fellow Member
2011
The American College of Medical Genetics Trainee Member
2010
The American Association of Immunologists
2005-2008
The Association for Research in Vision and Ophthalmology
REFERENCES
Available upon request