Principal Investigator/Program Director (Last, First, Middle):
BIOGRAPHICAL SKETCH
Provide the following information for the key personnel and other significant contributors in the order listed on Form Page 2.
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NAME
POSITION TITLE
Warren, Stephen T.
eRA COMMONS USER NAME
SWARREN1
William P. Timmie Professor of Human Genetics;
Charles Howard Candler Chair in Human Genetics;
Chairman, Department of Human Genetics;
Professor of Pediatrics; Professor of Biochemistry.
EDUCATION/TRAINING (Begin with baccalaureate or other initial professional education, such as nursing, and include postdoctoral training.)
INSTITUTION AND LOCATION
DEGREE
(if applicable)
YEAR(s)
FIELD OF STUDY
Michigan State University
B.S.
1976 Zoology
Michigan State University
Ph.D.
1981 Human Genetics
University of Illinois College of Medicine
Postdoc
1981-1985 Human Genetics
European Molecular Biology Laboratory
Visiting Fellow
1984 Molecular Genetics
A. Personal Statement I have successfully directed a large, continuously NIH-funded research program since
1987. Our focus has been the elucidation of the molecular basis of fragile X syndrome, a common form of
intellectual disability and autism. This work has led to the discovery of the causal FMR1 gene, the function of
the encoded protein, FMRP, the neurobiological consequences of FMRP loss, and small molecule screens to
uncover potential therapeutic strategies, some of which are currently in clinical trials. This work employs clinical
subjects, cultured cells, genetically modified mice and Drosophila. Another major interest is the molecular
relationship between major psychiatric disease and autism, particularly revolving around shared copy number
variation among these disorders.
B. Positions and Honors
Positions and Employment:
1985-1991
Assistant Professor of Biochemistry and of Pediatrics, Emory University School of Medicine.
1991-1993
Associate Professor of Biochemistry and of Pediatrics, Emory University School of Medicine.
1993-present William Patterson Timmie Professor of Human Genetics; Professor of Biochemistry; Professor
of Pediatrics; Emory University School of Medicine.
1991-2002
Investigator, Howard Hughes Medical Institute (resigned due to departmental chairmanship).
2001-present Founding Chairman, Department of Human Genetics, Emory University School of Medicine.
2003-present Associate Director, Baylor-Emory National Fragile X Research Center.
2007-present Simons Investigator (Simons Foundation Autism Research Initiative).
2010-present Charles Howard Candler Chair in Human Genetics.
2011-present Chief, Section of Human Genetics, The Emory Clinic
Selected Other Experience and Professional Memberships:
1987-present Diplomat, American Board of Medical Genetics (Clinical Cytogenetics & Molecular Genetics).
1992-present Founding Fellow, American College of Medical Genetics.
1992-1996
Member, Mammalian Genetics Study Section, NIH; Chairman (1994-96).
1997-2008
Board of Directors, American Society of Human Genetics.
2003-2009
Member, March of Dimes Research Review Committee C (prior membership:1995-2001).
1999-2005
Editor-in-Chief, The American Journal of Human Genetics.
2003-2007
Member, NIMH National Advisory Mental Health Council.
2009-present Member, NIMH Board of Scientific Counselors.
Honors: Sigma Xi Prize for Meritorious Research in Pediatrics (1981); March of Dimes Basil O'Connor Award
(1986); Albert E. Levy Science Faculty Award, Emory University (1987); William Rosen Research Award
(Inaugural award), The National Fragile X Foundation (1996); NARSAD Distinguished Investigator Award
(1996); National Institutes of Health Merit Award (1996); William Allan Award, The American Society of Human
Genetics (1999); Inaugural Inductee, National Institute of Child Health & Human Development Hall of Honor
(2003); Elected, Institute of Medicine of the National Academies (2004); President, American Society of Human
Genetics (2006); William & Enid Rosen Research Award (2nd award), The National Fragile X Foundation
(2006); Honorary Chairman, The 10th International Fragile X Conference (2006); Michigan State University
Outstanding Alumni Award (2007); Herbert & Esther Bennett Brandwein Award in Genetic Research (2008);
March of Dimes “Champion for Babies” Award (2008); Norman Saunders Jacob’s Ladder International
Research Prize (2009); American Academy of Neurology “Frontiers in Clinical Neuroscience” Award (2009);
Inaugural Member, Emory University Millipub Club (faculty with papers cited >1,000 times, 2009). March of
Dimes/Colonel Harland Sanders Award (2011). Dean’s Distinguished Faculty Award (Emory Univ., 2011).
Elected, National Academy of Sciences (2011).
PHS 398/2590 (Rev. 11/07)
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Biographical Sketch Format Page
Principal Investigator/Program Director (Last, First, Middle):
Warren, Stephen T.
Named Lectures: Blaffer Lecture (MD Anderson, 1994); University Distinguished Lecture (UT Southwestern,
1995); Burdette Lecture (Yale, 1996); Carver Lecture (Iowa, 1998); Friday Lecture (Rockefeller, 2002); Nobel
Lecture (Karolinska Institute, 2004); Benning Medical Society Lecture (Utah, 2008); Congressional Research
Caucus Speaker (United States Congress, 2009). Manton Lecture (Boston Children’s Hospital, 2010). David L.
Rimoin Lecture in Medical Genetics (UCLA, 2011).
Current Scientific Advisory Boards: FRAXA Foundation (2000 – present); National Fragile X Foundation
(2000 – present); Seaside Therapeutics, Inc., Boston (2005 – present); Gendia Foundation (2005 – present);
UCLA Consortium for Neuropsychiatric Phenomics (2007-present); Autism Speaks (2008 – present); European
Genetic & Epigenetic Networks in Cognitive Dysfunction (2009-present); Zikha Neurogenetic Institute, Keck
School of Medicine of USC (2009-present). Duncan Neurological Research Institute at Texas Children’s
Hospital (2009-present). Friedman Brain Institute, Mount Sinai School of Medicine (2010-present). Abu Dhabi
Personalized Medicine Project (2011 – present).
Editorial Boards: Human Molecular Genetics (1991-2000); Birth Defects Encyclopedia (1992-1995);
Cytogenetics & Cell Genetics (1992-1996); American Journal of Human Genetics (1992-1995); Dysmorphology
& Clinical Genetics (1992-1995); Mammalian Genome (1993-2001); American Journal of Medical Genetics
(1995-2000); Genomics (1994-2000); Molecular Genetics & Metabolism (1997-2006); Genetics in Medicine
(1998-2006); Neuromolecular Medicine (2002-2009); Autism Research (2007-present); PathoGenetics (20072010). Journal of Neurodevelopmental Disorders (2008-present); Application of Clinical Genetics (2008 –
present); Genome Research (2008 – present); Molecular Autism (2009 – present); Journal of Personalized
Medicine (2010 – present). Current Opinion in Genetics and Development (2011 – present).
C. Selected peer-reviewed publications (from >180 manuscripts, 18 chapters, 2 books; h-index: 60).
Warren ST, Zhang F, Licameli GR & Peters JF. The fragile X site in somatic cell hybrids: An approach for
molecular cloning of fragile sites. Science 237:420-423 (1987). PMID:3603029
Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu Y-H, Kuhl DPA, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang
F, Eussen BE, van Ommen GLB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Gakljaard H, Caskey
CT, Nelson DL, Oostra BA & Warren ST. Identification of a gene (FMR-1) containing a CGG repeat
coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905914 (1991). PMID:1710175
Yu, S, Kremer, E, Pritchard, M, Lynch, M, Nancarrow, J, Baker, E, Holman, K, Mulley, JC, Warren, ST,
Schlessinger, D, Sutherland, GR and Richards, RI. The fragile X genotype is characterized by an unstable
region of DNA. Science 252:1179-1181 (1991). PMID:17797913
Kremer, EJ, Pritchard, M, Lynch, M, Yu, S, Holman, K, Baker, E, Warren, ST, Schlessinger, D, Sutherland, GR
and Richards, RI. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.
Science 252:1711-1714 (1991). PMID:1675488
Pieretti, M, Fu, Y-H, Warren, ST, Zhang, F, Oostra, BA, Caskey, CT and Nelson, DL. Absence of expression
of the FMR-1 gene in fragile X syndrome. Cell 66:817-822 (1991). PMID:1878973
Fu, Y-H, Kuhl, DPA, Pizzuti, A, Pieretti, M, Sutcliffe, JS, Richards, S, Verkerk, JMH, Holden, JJA, Fenwick, RG,
Warren, ST, Oostra, BA, Nelson, DL and Caskey, CT. Variation of the CGG repeat at the fragile X site
results in genetic instability: Resolution of the Sherman paradox. Cell 67:1047-1058 (1991). PMID:1760838
Riggins, GJ, Lokey, LK, Chastain, JL, Leiner, HA, Sherman, SL, Wilkinson, KD and Warren, ST. Human genes
containing polymorphic trinucleotide repeats. Nat Genet 2:186-191 (1992). PMID:1345166
Ashley CT, Wilkinson KD, Reines D & Warren ST. FMR1 protein: Conserved RNP family domains and
selective RNA binding. Science 262:563-566 (1993). PMID:7692601
Kunst CB & Warren ST. Cryptic and polar variation of the fragile X repeat could result in predisposing normal
alleles. Cell 77:853-861 (1994). PMID:7911740
Feng Y, Zhang F, Lokey LK, Chastain JL, Lakkis L, Eberhart D & Warren ST. Translational suppression by
trinucleotide repeat expansion at FMR1. Science 268:731-734 (1995). PMID:7732383
Small, K, Iber, J and Warren, ST. Emerin deletion reveals a common X-chromosome inversion mediated by
inverted repeats. Nat Genet 16:96-99 (1997). PMID:9140403
Feng, Y, Absher, D, Eberhart, DE, Brown, V, Malter, HE and Warren, ST. FMRP associates with
polyribosomes as an mRNP and the I304N mutation of severe fragile X syndrome abolishes this
association. Mol Cell 1:109-118 (1997). PMID:9659908.
Coffee, B, Zhang, F, Warren, ST & Reines, D. Acetylated histones are associated with the FMR1 gene in
normal but not fragile X syndrome cells. Nat Genet 22:98-101 (1999). PMID:10319871.
Brown, V, Jin, P, Ceman, S, Darnell, JC, O’Donnell, WT, Tenenbaum, SA, Jin, X, Feng, Y, Wilkinson, KD,
Keene, JD, Darenll, RB and Warren, ST. Microarray identification of FMRP-associated brain mRNAs and
altered mRNA translational profiles in fragile X syndrome. Cell 107:477-487 (2001). PMID:11719188.
Darnell, JC, Jensen, KB, Brown, V, Jin, P, Warren, ST and Darnell, RB. Fragile X mental retardation protein
targets G-quartets mRNAs important for neuronal function. Cell 107:489-499 (2001). PMID:11719189.
Huber, KM, Gallagher, S, Warren, ST and Bear, MF. Altered synaptic plasticity in a mouse model of fragile-X
mental retardation. Proc Natl Acad Sci, USA 99:7746-7750 (2002). PMID:12032354.
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Principal Investigator/Program Director (Last, First, Middle):
Warren, Stephen T.
Jin, P, Zarnescu, DC, Zhang, F, Pearson CE, Lucchesi, JC, Moses, K, and Warren, ST. RNA-mediated
neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 39:739-747
(2003). PMID:12948442.
Jin, P, Zarnescu, DC, Ceman, S, Nakamoto, M, Mowrey, J, Jongens, TA, Nelson, DL, Moses, K, and Warren,
ST. Biochemical and genetic interaction between the fragile X mental retardation protein and the microRNA
pathway. Nature Neurosci 7:113-117 (2004). PMID:14703574.
Bear, MF, Huber, KM and Warren, ST. The mGluR theory of fragile X mental retardation. Trends Neurosci
27:370-377 (2004). PMID:15219735.
Penagarikano, O, Mulle, JG and Warren ST. The pathophysiology of fragile X syndrome. Annu Rev
Genomics Hum Genet 8: (2007). PMID:17477822.
Jin, P, Duan, R, Qurashi, A, Qin, Y, Tian, D, Rosser, TC, Liu, H, Feng, Y and Warren, ST. Pur  binds to rCGG
repeats and modulated repeat-mediated neurodegeneration in a Drosophila model of fragile X
tremor/ataxia syndrome. Neuron 55:556-564 (2007). PMID:17698009.
Nakamoto, M, Nalavadi, V, Epstein, MP, Narayanan, U, Bassell, GJ and Warren, ST. Fragile X mental
retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptors.
Proc Natl Acad Sci, USA 104:15537-15542 (2007). PMID:17881561.
Narayan, U, Nalavadi, V, Nakamoto, M, Pallas, D, Ceman, S, Bassell, GJ and Warren, ST. FMRP
phosphorylation reveals an immediate-early signaling pathway triggered by group1 mGluR and mediated
by PP2A. J Neurosci 27:14349-14357 (2007). PMID:18160642.
Chang, S, Bray, SM, Li, Z, Zarnescu, DC, He, C, Jin, P and Warren, ST. Identification of small molecules
rescuing fragile X syndrome phenotypes in Drosophila. Nature Chem-Biol 4:488-263 (2008).
PMID:18327252.
Bassell, GJ and Warren, ST. Fragile X syndrome: Loss of local mRNA regulation alters synaptic development
and function. Neuron 60:201-214 (2008). PMID:18957214.
Arlt, MF, Mulle, JG, Schaibly, VM, Ragland, RL, Durlin, SG, Warren, ST and Glover, TW. Replication stress
induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic
variants. Am J Hum Genet 84:1-12 (2009). PMID:19232554.
Coffee, B, Keith, K, Albizua, I, Malone, T, Mowrey, J, Sherman, SL and Warren, ST. Incidence of fragile X
syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet 85:503-514 (2009).
PMID:19804849.
Gross, C, Nakamoto, M, Chan, C-B, Yao, K, Warren, ST and Bassell, GJ: Excess phosphoinositide 3-kinase
subunit synthesis and activity as a novel therapeutic target in fragile X syndrome. J Neurosci 30:1062410638 (2010). PMID:20702695.
Mulle, JG, Dodd, AAF, McGrath, JA, Wolyneic, PS, Mitchell, AA, Shetty, AC, Sobreira, NL, Valle, D, Rudd, MK,
Satten, G, Cutler, DJ, Pulver, AE, and Warren, ST: Microdeletions of 3q29 confer high risk of
schizophrenia. Am J Hum Genet 87:229-236 (2010). PMID:20691406.
Collins, SC, Bray, SM, Suhl, JA, Cutler, DJ, Coffee, B, Zwick, ME and Warren, ST: Identification of novel FMR1
variants by massively parallel sequencing in developmentally delayed males. Am J Med Genet 152:25122520 (2010). PMID:20799337.
Bray, SM, Mulle, JG, Dodd, AF, Pulver, AE, Wooding, S, and Warren, ST: Signatures of founder effects,
admixture, and selection in the Ashkenazi Jewish population. Proc Natl Acad Sci, USA 107:16222-16227
(2010). PMID:20798349.
Zoghbi, HY and Warren, ST: Neurogenetics: Advancing the “next-generation” of brain research. Neuron
68:165-173 (2010). PMID:20955921.
Moreno-De-Luca, D, SGENE Consortium, Mulle, JG, Simons Simplex Collection Consortium, Ka,insky, EB,
Sander, SJ, GeneSTAR, Myers, SM, Adam, MP, Paluka, AT, Eisenhauer, NJ, Uhas, K, Weik, L, Guy, L,
Care, ME, Morel, CF, Boni, C, Salbert, BA, Chandrareddy, A, Demmer, LA, Chow, EWC, Surti, U,
Aradhya, S, Pickering, DL, Golden, DM, Sanger, WG, Aston, E, Brothman, AR, Gliem, TJ, Thorland, EC,
17q12 is a recurrent copy number variation that confers high risk of autism and schizophrenia. Am J
Hum Genet 87:618-630 (2010). PMID:21055719.
Muddashetty,RS, Nalavadi, V, Gross, C, Yao, X, Warren, ST and Bassell, GJ: Reversible inhibition of PSD-95
mRNA translation by miR-125a, FMRP phosphorylation and mGluR signaling. Mol Cell 42:673-688 (2011).
PMID:21658607.
Liu-Yesucevitz, L, Bassell, GJ, Gitler, AD, Hart, AC, Klann, E, Richter, JD, Warren, ST and Wolozin, B: Local
RNA translation at the synapses and in disease. J Neurosci 31:16086-16093 (2011). PMID:22072660.
PHS 398/2590 (Rev. 11/07)
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Principal Investigator/Program Director (Last, First, Middle):
Warren, Stephen T.
Kaminsky, EB, Kaul, V, Pashall, J, Church, DM, Bunke, B, Kunig, D, Moreno-De-Luca, A, Mulle, JG, Warren,
ST Richard, G, Compton, JG, Fuller, AE, Gliem, TJ, Huang, S, Collinson, M, Beal, S, Ackley, T, Pickering,
DL, Golden, DM, Aston, E, Whitby, H, Shetty, S, Rossi, MR, Rudd, MK, South, ST, Brothman, AR, Sanger,
WG, Iyer, R, Crolla, JA, Thorland, EC, Aradhya, S, Ledbetter, DH and Martin, CL: Frequency and
functional significance of recurrent CNVs identified in a pediatric cohort with unexplained developmental
disabilities. Genet Med 13:777-784 (2011). PMID:21844811.
Santoro, MR, Bray, SM and Warren, ST: Molecular mechanisms of fragile X syndrome: A twenty-year
perspective. Annu Rev Pathol 7:219-245 (2112). PMID:22017584.
Mulle, JG and Warren, ST: Genomic tics in Tourette syndrome. Biol Psychiatry 71:390-391 (2012).
PMID:22310325.
Girirajan, S, Brkanac, Z, Coe, BP, Baker, C, Vives, L, Vu, T, Shafer, N, Bernier, R, Warren, ST, Moreno, C,
Ferrero, GB, Fishera, M, Romano, C, Raskind, W and Eichler, EE: Relative burden of large CNVs on a
range of neurodevelopmental phenotypes. PLoS Genet In press.
Alish, RS, Barwick, BG, Chopra, P, Myrick, LK, Satten, GA, Conneely, KN and Warren, ST: Pediatric ageassociated DNA methylation. Genome Res In press.
D. Research Support
R01 HD020521-26 (no cost extension)
Warren (PI)
04/29/96-11/30/11
Molecular Cloning of the Fragile X Site
During the tenure of this grant the goal to clone the FMR1 gene was met. Current efforts focus upon
understanding the nature of the repeat expansion; understanding the normal function of the FMR protein; and
translational studies utilizing these advancements in the clinical setting.
RO1 GM097331-01
Warren (PI)
04/01/11-03/30/16
Characterization of the Schizophrenia-associated 3q29 Deletion in Mouse
The goal of this study is to model the 3q29 deletion in the mouse, developing a mouse model of schizophrenia
and the identification of the causal gene in this interval.
R01 MH080129-05
Warren (PI)
05/15/07-03/31/12
Schizophrenia Susceptibility by Copy Number Variation in the Ashkenazim
We will examine 1,000 unrelated Ashkenazi Jewish cases and controls as well as in 600 SZ parents for
genome-wide copy number variation.
5 R01 MH083722-04
Warren (PI)
09/25/08-05/31/12
Bipolar I Susceptibility by Copy Number Variation in an Isolated Population
The goal is to investigate whether deletions or duplications in the human genome are related to bipolar I
susceptibility using the Ashkenazi Jewish population.
5 R01 MH089606-02
Warren (PI)
09/30/09-08/31/12
Epigenetic Marks as Peripheral Biomarkers of Autism
The goal is to use epigenetics to screen for dynamic genome-wide methylation changes in autistic males.
5 T32 MH087977-02
Warren (PI)
07/01/09-06/30/14
Training Program in Human Disease Genetics
The goal is to produce a new generation of medical genetics professionals and is designed for pre- and
postdoctoral trainees.
3 P30 HD24064-22
Zohgbi (PI)
08/01/97-06/30/14
Baylor IDDRC - Fragile X Research Center
This Center, one of the inaugural three nationally, is funded as a supplement to the Baylor Mental Retardation
Research Center. STW is co-director of the Fragile X Center, responsible for Emory’s involvement.
5 P50 MH077928-04
Stowe (PI)
09/01/07-07/31/12
Perinatal Stress and Gene Influences: Pathways to Infant Vulnerability
The primary focus is the determination of fetal and neonatal exposure to perinatal stress factors and whether
or not such exposure affects obstetrical outcome, early neonatal development, or long-term child well-being.
5 P50 AG025688-06
Levey (PI)
05/01/10-04/30/15
The Emory Alzheimer’s Disease Research Center
This center seeks to establish clinical, pathologic, education, data management and administrative cores to
support Alzheimer’s disease research.
5 U01 MH087636-02
Emanuel (PI)
09/10/10-05/31/15
Brain, Behavior and Genetic Studies of the 22q11 Deletion Studies
The goal of the collaboration is to capitalize on a unique sample of 22q11DS and obtain neuropsychiatric,
neurocognitive, and neuroimaging phenotypes of brain structure and function.
Simons Foundation
Kunkel (PI)
07/01/10-06/30/13
RNA Expression Studies in Autism Spectrum Disorders
The primary goal of is to measure RNA expression patterns in whole blood from ASD patients and controls.
PHS 398/2590 (Rev. 11/07)
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