Sandra Barral Rodriguez, PhD
Sandra Barrral Rodriguez is an Assistant Professor of Neurogenetics (in Neurology, the Gertrude H. Sergievsky Center and the Taub Institute for Research on Alzheimer's Disease and the Aging Brain) at the Columbia University Medical Center.
|Sandra Barral Rodriguez PhD
630W 168th St, P&S 16
New York, NY 10032
My research is primarily in the area of mapping genes contributing to the susceptibility for Alzheimer disease and other human neurodegenerative disorders.
Alzheimer’s disease affects an estimated of 4.5 million Americans, and the national direct and indirect annual cost of caring for individuals with Alzheimer’s disease are at least $100 billion according to estimates used by the Alzheimer’s Association and the National Institute of Aging. Although the etiology of Alzheimer disease remains to be fully understood, there is compelling evidence that genetic risk factors play a major role in the development of the disease. It is well accepted that, along with age, family history is the most prominent risk factor for the development of the disease. Inheritance of the apolipoprotein ε-4 allele is a risk factor, including both sporadic and late-onset familial forms of the disease. Variation in four genes has already been shown to cause rare forms of early-onset AD (the Amyloid Precursor Protein Gene, Presenilin 1 and Presenilin 2). Nevertheless, epidemiological studies suggest that additional genetic or environmental factors could play essential roles in the disease.
The identification of additional genetic risk factors contributing to increase the risk of developing Alzheimer’s will lead to improved genetic medicine, so that screening and diagnosis of Alzheimer’s disease as well as enhanced therapeutic and preventive tools can eventually be developed. Through application of different gene mapping statistical methods, linkage and association strategies in genome-wide and candidate gene approaches, we are able to identify genetic risk factors influencing Alzheimer’s disease.
Recent Publications: 2008-2007
Cheng YW, Pincas H, Bacolod MD, Schemmann G, Giardina SF, Huang J, Barral S, Idrees K, Khan SA, Zeng Z, Rosenberg S, Notterman DA, Ott J, Paty P, Barany F.
CpG island methylator phenotype associates with low-degree chromosomal abnormalities in colorectal cancer. Clin Cancer Res. 2008 Oct 1;14(19):6005-13.
Lee JH, Barral S, Reitz C.
The neuronal sortilin-related receptor gene SORL1 and late-onset Alzheimer's disease.
Curr Neurol Neurosci Rep. 2008 Sep;8(5):384-91. Review.
Oosterhuis BE, LaForge KS, Proudnikov D, Ho A, Nielsen DA, Gianotti R, Barral S, Gordon D, Leal SM, Ott J, Kreek MJ.
Catechol-O-methyltransferase (COMT) gene variants: possible association of the Val158Met variant with opiate addiction in Hispanic women. Am J Med Genet B Neuropsychiatr Genet. 2008 Sep 5;147B(6):793-8
Levran O, O'Hara K, Peles E, Li D, Barral S, Ray B, Borg L, Ott J, Adelson M, Kreek MJ.
ABCB1 (MDR1) genetic variants are associated with methadone doses required for effective treatment of heroin dependence. Hum Mol Genet. 2008 Jul 15;17(14):2219-27
Nielsen DA, Barral S, Proudnikov D, Kellogg S, Ho A, Ott J, Kreek MJ.
TPH2 and TPH1: association of variants and interactions with heroin addiction. Behav Genet. 2008 Mar;38(2):133-50
Lee JH, Barral S, Cheng R, Chacon I, Santana V, Williamson J, Lantigua R, Medrano M, Jimenez-Velazquez IZ, Stern Y, Tycko B, Rogaeva E, Wakutani Y, Kawarai T, St George-Hyslop P, Mayeux R.
Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer's disease.Neurogenetics. 2008 Feb;9(1):51-60
Quinzii CM, Vu TH, Min KC, Tanji K, Barral S, Grewal RP, Kattah A, Camaño P, Otaegui D, Kunimatsu T, Blake DM, Wilhelmsen KC, Rowland LP, Hays AP, Bonilla E, Hirano M.
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am J Hum Genet. 2008 Jan;82(1):208-13
Virtanen IM, Karppinen J, Taimela S, Ott J, Barral S, Kaikkonen K, Heikkilä O, Mutanen P, Noponen N, Männikkö M, Tervonen O, Natri A, Ala-Kokko L.
Occupational and genetic risk factors associated with intervertebral disc disease. Spine. 2007 May 1;32(10):1129-34
Kanková K, Stejskalová A, Pácal L, Tschoplová S, Hertlová M, Krusová D, Izakovicová-Hollá L, Beránek M, Vasku A, Barral S, Ott J.
Genetic risk factors for diabetic nephropathy on chromosomes 6p and 7q identified by the set-association approach. Diabetologia. 2007 May;50(5):990-9
Virtanen IM, Noponen N, Barral S, Karppinen J, Li H, Vuoristo M, Niinimäki J, Ott J, Ala-Kokko L, Männikkö M.
Putative susceptibility locus on chromosome 21q for lumbar disc disease (LDD) in the Finnish population. J Bone Miner Res. 2007 May;22(5):701-7