Sandra Barral Rodriguez, Ph.D

Assistant Professor of Neurology

Gertrude H. Sergievsky Center

630W 168th St, P&S 16

New York, NY 10032

Phone: 212.305.5139

Email: smb2174@columbia.edu

Ongoing Research

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.

Representative publications

Lee JH, Barral S, Cheng R, Chacon I, Santana V, Williamson J, Lantigua R, Medrano M, Jimenez-Velazques I, 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

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 Jan 8

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, Heikkila O, Mutanen P, Noponen N, Mannikko 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.

Kankova K, Stejskalova A, Pacal L, Tschoplova S, Hertlova M, Krusova D, Izakovicova-Holla L, Beranek 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.

Barral S, Francis PJ, Schultz DW, Schain MB, Haynes C, Majewski J, Ott J, Acott T, Weleber RG, Klein ML.

Expanded genome scan in extended families with age-related macular degeneration. Investigative Ophthalmology Visual Science. 2006 Dec; 47(12):5453-9.

Mirjana Tosic, Jurg Ott, Sandra Barral, Pierre Bovet, Patricia Deppen, Fulvia Gheorghita, Marie-Louise Matthey, Josef Parnas, Martin Preisig, Michael Saraga, Alessandra Solida, Sally Timm, August G. Wang, Thomas Werge, Michel Cuénod, Kim Quang Do.

Schizophrenia and oxidative stress: Glutamate cysteine ligase modifier as a susceptibility gene. Am J Hum Genet. 2006 Sept; 79:586-592

Sandra Barral, Chad Haynes, Millicent Stone, Derek Gordon.

LRTae: Improving statistical power for genetic association with case/control data when phenotype and/or genotype misclassification errors are present. BioMedCentral Genetics 2006, 7:24

Proudnikov D, LaForge KS, Hofflich H, Levenstien M, Gordon D, Barral S, Ott J, Kreek MJ.

Association analysis of polymorphisms in serotonin 1B receptor (HTR1B) gene with heroin addiction: a comparison of molecular and statistically estimated haplotypes. Pharmacogenetics and Genomics. 2006 Jan;16(1):25-36.

Levran O, Attwooll C, Henry RT, Milton KL, Neveling K, Rio P, Batish SD, Kalb R, Velleuer E, Barral S, Ott J, Petrini J, Schindler D, Hanenberg H, Auerbach AD.

The BRCA1-interacting helicase BRIP1 is deficient in Fanconi anemia. Nature Genetics. 2005 Sep; 37(9):931-3.