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Dr. Collins is a genetic epidemiologist. Genetic epidemiology combines population genetics with epidemiology, the study of the distribution and determinants of
disease in human populations, to study the genetic factors involved in disease
and susceptibility to disease. For teaching tools and internet links
related to genetic epidemiology, click here.
Dr. Collins specializes in designing and analyzing linkage
and association studies at Greenwood Genetic Center. She provides statistical
assistance for researchers and is involved in educational programs at the
center. She also assists in grant-writing and designing and managing
databases. Dr. Collins' research interests include the elucidation of the
causes of mental retardation, birth defects, and autism.
Dr. Collins' research group consists of a research assistant and a graduate student. Research assistant Jonathan Rollins is currently updating the GGC Growth References handbook. He has submitted a paper to Pediatrics on comprehensive head circumference growth charts and is working on another paper on fetal growth in Down syndrome. Graduate student Sara Sarasua has a MPH in epidemiology and is in the second year of her PhD in genetics at Clemson. She just had a paper accepted by BMC Proceedings on correcting for population stratification in genome wide association studies and will be studying methods to correct expression data for population stratification for her PhD research. Dr. Collins has an interest in the causation of mental retardation and oversees a database of over 13,000 South Carolina mental retardation patients. She works with the SC Birth Defects Program and has a particular interest in promoting the benefits of folic acid in neural tube defect prevention. Dr. Collins collaborates with other members of the National Birth Defects Prevention Network on epidemiological studies of birth defects. In conjunction with Drs. Keith Murphy and Alison Starr of Clemson University, Dr. Collins is studying the causation of spina bifida in English Bulldogs and canine cleft lip and palate. Dr. Collins is also collaborating with Dr. Hongmei Zhang from the University of South Carolina in the analysis of surveys, biochemical measurements, and polymorphisms from South Carolina patients and families with neural tube defects.
Dr. Collins is a member of the American Society of Human
Genetics, the International Genetic Epidemiology Society, the Society for
Epidemiologic Research, the American Statistical Association, and the National
Birth Defects Prevention Network.
Selected publications:
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Collins JS, Go RCP. Disease classification and
transmission effects on linkage analyses in the NIMH1 bipolar disorder
pedigrees. Genet Epi 14:587-592, 1997.
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Collins JS, Perry RT, Watson Jr B, Harrell LE,
Acton RT, Blacker D, Albert MS, Tanzi R, McInnis MG, Bassett SS, Campbell RD,
Go RCP. Association of a haplotype for tumor necrosis factor in siblings
with late-onset Alzheimer disease - The NIMH Alzheimer Disease Genetics
Initiative. Am J Med Genet (Neuropsychiatr Genet) 96:823-830, 2000.
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Perry RT, Collins JS, Wiener H, Acton R, Go RCP. The role of TNF and its receptors in
Alzheimer disease. Neurobiol Aging 22:873-883, 2001.
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Perry RT,
Collins JS, Harrell LE, Acton RT, Go RCP. Investigation of association of 13 polymorphisms in 8 genes in
Southeastern African-American Alzheimer's disease patients as compared to
age-matched controls. Am J Med Genet (Neuropsychiatr Genet) 105:332-342,
2001.
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Holden KR,
Collins JS, Greene JF, Hinkle S, Nave
AF, Portillo JM, Page GP, Stevenson RE. Dietary intake and blood folate
levels in Honduran women of childbearing age. J Child Neurol 17:341-346, 2002.
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Collins JS, Olson RL, Dupont BR, Wolff DJ, Best RG,
Stevenson RE. The prevalence of aneuploidies in South Carolina in the
1990’s. Genet Med 4:131-135, 2002.
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Collins JS, Schwartz CE. Detecting polymorphisms and mutations in
candidate genes. Am J Hum Genet 71:1251-1252, 2002.
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Blacker D, Bertram L, Saunders AJ. Moscarillo TJ, Albert MS, Wiener H, Perry
RT, Collins JS, Harrell LE, Go RC, Mahoney A, Beaty T, Fallin MD,
Avramopoulos D, Chase GA, Folstein MF, McInnis MG, Bassett SS, Doheny KJ, Pugh
EW, Tanzi RE. Results of a high-resolution genome screen of 437
Alzheimer's disease families. Hum Mol Genet 12:23-32, 2003.
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Stevenson RE, Procopio-Allen AM, Schroer RJ,
Collins JS. Recognizable
genetic syndromes among individuals with mental retardation. Am J Med Genet
123A:29-32, 2003.
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Vervoort VS, Holden KR, Ukadike KC, Collins JS, Saul RA, Srivastava AK.
POMGnT1 alterations in a Caucasian family with congenital muscular dystrophy,
glaucoma, and mental retardation. Ann Neurol 56:143-148, 2004.
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Stevenson RE, Seaver LH, Collins JS, Dean JH. Neural tube defects
and associated anomalies in South Carolina. Birth Defects Res (Part A)
70:554-558, 2004.
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Medina MT, Duron R, Martinez L, Osorio JR, Estrada AL, Aguilar-Estrada R,
Thompson A, Dubon S, Barahona F, Ramirez F, Rivera M, Banegas L, Zuniga C,
Cartagena D, Collins JS, Holden KR. Prevalence and incidence of
epilepsy in rural Honduras: the Salama study. Epilepsia 46:124-131,
2005.
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Canfield MA, Collins JS, Botto LD, Williams LJ, Mai CT, Kirby RS,
Pearson K, Mulinare J. Changes in the birth prevalence of selected birth
defects after flour fortification with folic acid in the United States:
findings from a multi-state population-based study. Birth Defects Res
(Part A) 73:679-689, 2005.
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Canfield MA, Ramadhani TA, Yuskiv N, Davidoff MJ, Petrini JR, Hobbs CA, Kirby
RS, Romitti PA, Collins JS, Devine O, Honein MA, Mai CT, Edmonds LD,
Correa A. Improved National Prevalence Estimates for 18 Selected Major Birth
Defects - United States, 1999-2001. MMWR 54:1301-1305, 2006.
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Bol K, Collins JS, Kirby R. Survival rates for infants with neural tube
defects in the presence of folic acid fortification. Pediatrics 117:803-813,
2006.
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Archie JG, Collins JS, Lebel RR. Quantitative standards for fetal and
neonatal autopsy. Am J Clin Pathol 126:256-265, 2006.
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Canfield MA, Honein MA, Yuskiv N, Xing J, Mai CT, Collins JS, Devine O,
Petrini JR, Ramadhani TA, Hobbs CA, Kirby RS. National Estimates and
Race/Ethnic-Specific Variation of Selected Birth Defects in the United States,
1999-2001. Birth Defects Res (Part A) 76:747-746, 2006.
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Grosse S, Collins JS. Folic Acid supplementation and neural tube
defect recurrence prevention. Birth Defects Res (Part A) 79:737-742, 2007.
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Boulet SL, Yang Q, Mai C, Kirby RS, Collins JS, Robbins JM, Meyer R,
Canfield MA, Mulinare J. Trends in the post-fortification prevalence of
spina bifida and anencephaly in the United States. Birth Defects Res (Part
A) 82:527-532, 2008.
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Cho G, Bhat SS, 4, Gao J, Collins JS, Rogers RC,
Simensen RJ, Schwartz CE, Golden JA, Srivastava AK. Evidence that SIZN1 is a
candidate X-linked mental retardation gene. Am J Med Genet A,
146A:2644-2650, 2008.
- Saul RA, Friez M, Eaves K, Stapleton GA, Collins JS,
Schwartz CE, Stevenson RE. Fragile X syndrome detection in newborns - pilot
study. Genet Med 10:714-719, 2008.
- Grosse SD, Ouyang L, Collins JS, Green D, Dean JH,
Stevenson RE. Economic evaluation of a neural tube defect
recurrence-prevention program. Am J Prev Med 35:572-577, 2008.
- Maghirang-Rodriguez R, Archie JG, Schwartz CE, Collins
JS. The c.940G variant of the Microcephalin gene (MCPH1) is not
associated with microcephaly or mental retardation. Am J Med Genet A
149A:622-625, 2009.
- Duron RM, Medina MT, Nicolás O, Varela FE, Battle S,
Thompson A, Aguilar-Estrada RL, Pietsch-Escueta S, Collins JS, Holden
KR. Adherence and complementary and alternative medicine use among Honduran
people with epilepsy. Epilepsy Behav 14:645-650, 2009.
- Lebel RR, Avery JM, Broome PJ, Collins JS.
Prenatal diagnostic accuracy in South Carolina, demonstrated by autopsy.
Fetal Pediatr Pathol: In Press 2009.
- Sarasua SM, Collins JS, Williamson D, Satten GA,
Allen AS. Effect of population stratification on the identification of
significant SNPs in genome wide association studies. BMC Proc: In Press
2009.
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