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.
Follow this format for each person. DO NOT EXCEED FOUR PAGES.
NAME
POSITION TITLE
Fain Pamela R
Associate Professor
eRA COMMONS USER NAME
FAIN.PAM
EDUCATION/TRAINING (Begin with baccalaureate or other initial professional education, such as nursing,
and include postdoctoral training.)
DEGREE
INSTITUTION AND LOCATION
YEAR(s)
FIELD OF STUDY
(if applicable)
University of Colorado, Boulder CO
University of Colorado, Boulder CO
University of Colorado, Boulder CO
University of Colo Health Sci Ctr, Denver CO
B.A.
M.A.
Ph.D.
Post doctoral
1966-1971
1971-1973
1973-1976
1976-1978
Mathematics
Biology
Biology
Medical Genetics
A. Personal Statement
I have a broad background in genetics research, and over 30 years experience in productive research
projects with an emphasis on human disease gene mapping, including genetic linkage studies of
Mendelian and complex diseases and genetic association analyses of various autoimmune diseases,
primarily type 1 diabetes and vitiligo, with the vast majority of these projects funded by NIH grants.
Over the past 15 years, I have collaborated with the PI, Dr. George Eisenbarth, on many different
projects relating to the genetics of type 1 diabetes and associated autoimmunity. I have extensive
experience with the databases and analyses of demographic, family history, autoantibody and
genotyping data that have been collected as part of DAISY project, as well as new onset patients, and
have had a primary role in studies of initially disease-discordant monozygotic and dizygotic twins,
including twin ascertainment and development of our twin database. As the result of my long-standing
background and training in human genetics, together with more recent experience in the genetics of
autoimmunity, I am especially well-suited to assist Dr. Eisenbarth with the design and analysis of the
genetic studies proposed in this application.
B. Positions and Honors.
1970
Res. Assist., Inst. for Behavioral Genet., Univ. of Colo. ,Boulder, CO
1971-1974 NIMH Predoctoral Fellowship, Inst. for Behavioral Genet., Boulder, CO
1974-1975 Consultant in genetic analysis, Univ. of Colo. Health Sci. Ctr., Denver, CO
1976-1978 NIH Postdoctoral Fellowship, Univ. of Colo. Health Sci. Ctr., Denver, CO
1978-1985 Assistant Professor, Dept. of Preventive Medicine, Creighton Univ. School of Med., Omaha, NE
1985-1986 Staff Population Geneticist, Boys Town National Institute, Omaha, NE
1987-1995 Res. Assist. Prof., Univ. of Utah School of Med., Dept. of Medical Informatics, Salt Lake City, UT
1995-2001 Assistant Professor, Dept. of Medicine, Univ. of Colo. Health Sci. Ctr., Denver, CO
1998Director, HMGP Genotyping and Mutation Screening Core Facility
2001Associate Professor, Depts. of Medicine and Pediatrics, Univ. of Colo. Health Sci. Ctr., Denver, CO
Other Experience and Professional Memberships
Member, American Society of Human Genetics
Member, Type 1 Diabetes Consortium
Member, Genetic Epidemiology of Lung Cancer Consortium
C. Selected peer-reviewed publications (in chronological order).
(Publications selected from 124 peer reviewed publications)
1. Fain PR, Gowan K, LaBerge GS, Alkhateeb A, Stetler GL, Talbert J, Bennett DC, Spritz RA. A
genomewide screen for generalized vitiligo: confirmation of AIS1 on chromosome 1p31 and evidence for
additional susceptibility loci. Am J Hum Genet 72:1560-1564, 2003. PMCID: PMC1180316.
2. Spritz RA, Gowan K, Bennett DC, Fain PR. Novel vitiligo susceptibility loci on chromosomes 7 (AIS2) and
8 (AIS3), confirmation of SLEV1 on chromosome 17, and their roles in an autoimmune diathesis. Am J
Hum Genet 74:188-191, 2004. PMCID:PMC1181907.
3. Ide A, Babu SR, Robles DT, Wang T, Erlich HA, Bugawan TL, Rewers M, Fain PR, Eisenbarth GS:
Homozygosity for premature stop codon of the MHC class I chain-related gene A (MIC-A) is associated
with early activation of islet autoimmunity of DR3/4-DQ2/8 high risk DAISY relatives. J Clin Immunol
25:303-8, 2005.
4. Fain PR, Bennett D, Spritz RA: HLA class II haplotype DRB1*04-DQB1*0301 contributes to risk of familial
generalized vitiligo and early onset. Pigment Cell Res, 19:51-57, 2006.
5. Aly T, Eller E, Ide A, Gowan K, Babu S, Erlich HA, Rewers MJ, Eisenbarth GS, Fain PR: Analysis of MHC
region: Remarkable conservation of HLA-A1-B8-DR3 haplotype. Diabetes, 55:1265-9, 2006.
6. Eller E, Vardi P, Babu SR, Bugawan TL, Erlich HA, Yu L, Fain PR. Celiac disease and HLA in a Bedouin
Arab kindred. Hum Immunol, 67:940-50, 2006. PMCID: PMC1764604.
7. Aly TA, Eller E, Ide A, Gowan K, Babu SR, Erlich HA, Rewers MJ, Eisenbarth GS, Fain PR: Multi-SNP
analysis of MHC region: remarkable conservation of HLA-A1-B8-DR3 haplotype. Diabetes 55:1265-9,
2006.
8. Jin Y, Mailloux CM, Gowan K, Riccardi SL, LaBerge G, Bennett DC, Fain PR, Spritz RA: NALP1 in VitiligoAssociated Multiple Autoimmune Disease. N Engl J Med, 356:1216-25, 2007.
9. Eller E, Vardi P, McFann KK, Babu SR, Yu L, Bugawan TL, Erlich HA, Eisenbarth GS, Fain PR:
Differential effects of DRB1*0301 and DQA1*0501-DQB1*0201 on the activation and progression of islet
cell autoimmunity. Genes Immun, 8:628-33, 2007.
10. Aly TA, Baschal EE, Jahromi MM, Fernando MS, Babu SR, Fingerlin TE, Kretowski A, Erlich HA, Fain PR,
Rewers MJ, Eisenbarth GS: Analysis of single nucleotide polymorphisms identifies major type 1A diabetes
locus telomeric of the major histocompatibility complex. Diabetes 57:770-6, 2008.
11. Redondo MJ, Jeffrey J, Fain PR, Eisenbarth GS, Orban T: Concordance for islet autoimmunity among
monozygotic twins. N Engl J Med 359:2849-50, 2008.
12. Birlea SA, LaBerge GS, Procopciuc LM, Fain PR, Spritz RA. CTLA4 and generalized vitiligo: Two
association studies and a meta-analysis of published data. Pigment Cell Melanoma Res, 22:230-234,
2009. PMCID: PMC2745263.
13. Birlea SA, Gowan K, Fain PR, Spritz RA. Genome-wide association study of generalized vitiligo in an
isolated European founder population identifies SMOC2, in close proximity to IDDM8. J Invest Dermatol
130:798-803, 2010.
14. Jin Y, Riccardi SL, Gowan K, Fain PR, Spritz RA. Fine-mapping of vitiligo susceptibility loci on
chromosomes 7 and 9 and interactions with NLRP1 (NALP1). J Invest Dermatol 130:774-783, 2010.
15. Jin Y, Birlea SA, Fain PR, Gowan K, Riccardi SL, Holland PJ, Mailloux CM, Sufit AJD, Hutton SM, AmadiMyers A, Bennett DC, Wallace MR, McCormack WT, Kemp EH, Gawkrodger DJ, Weetman AP, Picardo M,
Leone G, Taieb A, Jouary T, Ezzedine K, van Geel N, Lambert J, Overbeck A, Spritz RA. Variant of TYR
and autoimmunity susceptibility loci in generalized vitiligo. New Eng J Med 362:1686-97, 2010.
C. Research Support
Ongoing Research Support
AR45584-10 (Spritz, PI)
4/1/09-3/31/12
NIH/NIAMS “Mapping and functional analysis of vitiligo susceptibility genes”
The major goals of this project are functional studies of NALP1, mapping and identification of genes for vitiligo
on chromosomes 7 and 9, and mapping and identification of a recessive vitiligo susceptibility locus in a
Romanian founder population.
Role: Co-investigator
PHS 398/2590 (Rev. 09/04, Reissued 4/2006)
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AR056292-02 (Spritz, PI)
4/1/2008-8/31/2012
NIH/NIAMS
VitGene International Consortium to identify susceptibility genes for generalized vitiligo. This is a proposal for
an international consortium to carry out a genomewide association study for generalized vitiligo
Role: Co-investigator
AR056292-02S1 (Spritz, PI)
9/25/2009-9/24/2011
ARRA Competitive Revision of AR056292. This is a proposal to re-sequence the vitiligo-associated NLRP1
gene and other non-MHC genes identified in linkage or association studies of vitiligo.
Role: Co-investigator
SRS#19633 (Fain, PI)
05/01/1999–08/31/2010
NIH/NCI
Genetic Epidemiology of Lung Cancer Consortium. Subcontract to identify and collect samples from multiplex
families with lung cancer, and to serve on the statistical genetics analysis steering committee as part of a
national consortium to map susceptibility genes for lung cancer.
Role: Principal Investigator
DK32083-24 (Eisenbarth, PI)
07/01/2001 - 02/28/2011
NIH/NIDDK
Multiple Autoantigens/Multiple Epitopes of Pre-Type I DM
Development and study of autoantibody assays and genetics type 1 diabetes and related disorders.
Role: Co-investigator
AI050864-06 (Eisenbarth PI)
09/30/2001-08/31/2011
NIH/NIAID
Autoimmune Prevention Center Project 2. An extension of the ADA twin study that allows for long-term
followup of initially unaffected twins of patients with type 1 diabetes, and determines the association of the rate
of progression to type 1 diabetes with the MHC.
Role Co-investigator
Leona and Harry Helmsley Foundation Diabetes Program
07/15/2009-07/14/2012
T-Cell Receptor Sequence differences between monozygotic twins
Next Generation Sequencing of T-cell receptors obtained from cells in peripheral blood to study changes in
patterns of gene expression to explain discordance in diabetes onset in monozygotic twins.
Role Co-Investigator
Completed Research Support
ADA, 2004-2007, Fain, PI. Islet-cell autoimmunity: are dizgotic twins the same as siblings?
Investigate the genetic basis of pre-clinical markers of type 1 diabetes.
NIH, Denver Autoimmune Center of Excellence Basic Project #3, Fain, Co-PI, 1999-2009: Identify
susceptibility genes that contribute to multiple autoimmune phenotypes, focusing on genes that contribute to
the association between Addison’s disease and type 1 diabetes.
NIH, PKD Program Project 2, Fain, PI, 2001-2007, Modifier genes in autosomal dominant polycystic kidney
disease. Identify modifier genes contributing to the variation in expression of ADPKD.
NIH. Fain, Co-PI, 2004-2009, Mapping of vitiligo susceptibility genes
Mapping of genes for vitiligo by genomewide linkage in outbred Caucasian families.
PHS 398/2590 (Rev. 09/04, Reissued 4/2006)
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