- ASSISTANT PROFESSOR Genetics and Genomic Sciences
PhD, University of Saskatchewan
Mount Sinai School of Medcine
Clinical Molecular Genetics and Clinical Cytogenetics
Dr. Scott is a clinical laboratorian who is certified by the American Board of Medical Genetics (ABMG) in clinical molecular genetics and clinical cytogenetics. In addition to genetics and genomics, his research interests currently include pharmacogenetics and epigenetics, as well as clinical implementation of genetic testing and personalized medicine.
Dr. Harold and Golden Lamport Research Award
Mount Sinai School of Medicine
William K. Bowes Jr Award in Medical Genetics
Partners HealthCare Center for Personalized Genetic Medicine, Harvard Medical School
ResearchDr. Scott serves as a Co-Investigator of the Institute of Personalized Medicine's (IPM) eMERGE program by providing expertise in clinical genetics and implementing pharmacogenetic testing.
- Clinical molecular genetics
- Clinical cytogenetics and cytogenomics
- Pharmacogenetics and pharmacogenomics
- Epigenetics and epigenomics
Pharmacogenetics and PharmacogenomicsIn collaboration with Mount Sinai cardiologists, several warfarin pharmacogenetics research projects are currently ongoing. Our group previously determined the variant allele frequencies of genes involved in interindividual warfarin dosing variability (CYP2C9, VKORC1, and CYP4F2) in several major racial and ethnic populations. The identification of novel alleles associated with warfarin dosing is an ongoing area of research. Consistent with these studies, the Mount Sinai School of Medicine is a clinical site for the NHLBI-sponsored Clarification of Optimal Anticoagulation Through Genetics (COAG) clinical trial (ClinicalTrials.gov identifier: NCT00839657). By comparing clinical- to genome-guided dosing, the goal of this proof-of-concept efficacy trial is to determine if genetic information provides added utility to warfarin dosing in clinical practice. Additional and ongoing projects involve the identification and population structure of novel CYP450 alleles, including copy number variants, and the pharmacogenetics of antiplatelet agents.
Epigenetics and GenomicsPrevious studies investigated promoter hypermethylation of mismatch repair and cell cycle genes implicated in leukemia pathogenesis using bisulfite-based techniques and assessed the ability of novel epigenetic therapeutic agents (e.g., 5-Aza-2’deoxycytidine, zebularine, trichostatin A) to re-express aberrantly silenced genes in vitro. Current efforts are aimed at using immunoprecipitation in conjunction with microarray-based techniques and next generation sequencing to identify DNA methylation profiles of different types of hematological malignancies. In addition, whole-genome single nucleotide polymorphism arrays and array-based comparative genomic hybridization analyses are employed to identify genomic regions of acquired copy-number neutral loss of heterozygosity and sub-microscopic regions of aberrant copy-number imbalance. These studies aim to identify new regions of the genome implicated in the molecular pathogenesis of leukemia and lymphoma as markers for diagnostic and prognostic applications, and/or potential therapeutic targets.
Scott SA. Clinical pharmacogenomics: opportunities and challenges at point of care. Clin Pharmacol Ther 2013; 93(1): 33-35.
Martis S, Mei H, Vijzelaar R, Edelmann L, Desnick RJ, Scott SA. Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation. Pharmacogenomics J 2012 Nov;.
Lyon E, Gastier Foster J, Palomaki GE, Pratt VM, Reynolds K, Sábato MF, Scott SA, Vitazka P. Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy. Genet Med 2012 Dec; 14(12).
Martis S, Peter I, Hulot JS, Kornreich R, Desnick RJ, Scott SA. Multi-ethnic distribution of clinically relevant CYP2C genotypes and haplotypes. Pharmacogenomics J 2012 Apr;.
Scott SA. Personalizing medicine with clinical pharmacogenetics. Genet Med 2011; 13(12): 987-995.
Cayla G, Hulot JS, O'Connor SA, Pathak A, Scott SA, Gruel Y, Silvain J, Vignalou JB, Huerre Y, de la Briolle A, Allanic F, Beygui F, Barthélémy O, Montalescot G, Collet JP. Clinical, angiographic, and genetic factors associated with early coronary stent thrombosis. JAMA 2011; 306(16): 1765-1774.
Scott SA, Sangkuhl K, Shuldiner AR, Hulot JS, Thorn CF, Altman RB, Klein TE. PharmGKB summary: very important pharmacogene information for cytochrome P450, family 2, subfamily C, polypeptide 19. Pharmacogenet Genomics 2011; 22(2): 159-165.
Johnson JA, Gong L, Whirl-Carrillo M, Gage BF, Scott SA, Stein CM, Anderson JL, Kimmel SE, Lee MT, Pirmohamed M, Wadelius M, Klein TE, Altman RB. Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 genotypes and warfarin dosing. Clin Pharmacol Ther 2011; 90(4): 625-629.
Scott SA, Sangkuhl K, Gardner EE, Stein CM, Hulot JS, Johnson JA, Roden DM, Klein TE, Shuldiner AR. Clinical Pharmacogenetics Implementation Consortium guidelines for cytochrome P450-2C19 (CYP2C19) genotype and clopidogrel therapy. Clin Pharmacol Ther 2011; 90(2): 328-332.
Scott SA, Martis S, Peter I, Kasai Y, Kornreich R, Desnick RJ. Identification of CYP2C19*4B: pharmacogenetic implications for drug metabolism including clopidogrel responsiveness. Pharmacogenomics J 2012; 12(4): 297-350.
Takahashi N, Wakita H, Miura M, Scott SA, Nishii K, Masuko M, Sakai M, Maeda Y, Ishige K, Kashimura M, Fujikawa K, Fukazawa M, Katayama T, Monma F, Narita M, Urase F, Furukawa T, Miyazaki Y, Katayama N, Sawada K. Correlation of imatinib pharmacokinetics with clinical response in Japanese patients with chronic phase chronic myeloid leukemia. Clin Pharmacol Ther 2010; 88(6): 809-813.
Scott SA, Edelmann L, Liu L, Luo M, Desnick RJ, Kornreich R. Experience with carrier screening and prenatal diagnosis for 16 Ashkenazi Jewish genetic diseases. Hum Mutat 2010; 31(11): 1240-1250.
Scott SA, Cohen N, Brandt T, Warburton PE, Edelmann L. Large inverted repeats within Xp11.2 are present at the breakpoints of isodicentric X chromosomes in Turner syndrome. Hum Mol Genet 2010; 19(17): 3383-3393.
Lubitz SA, Scott SA, Rothlauf E, Agarwal A, Peter I, Doheny D, van Der Zee S, Jaremko M, Desnick RJ, Halperin JL. Comparative performance of gene-based warfarin dosing algorithms in a multiethnic population. J Thromb Haemost 2010; 8(5): 1018-1026.
Lakshmikuttyamma A, Scott SA, DeCoteau JF, Geyer CR. Reexpression of epigenetically silenced AML tumor suppressor genes by SUV39H1 inhibition. Oncogene 2010; 29(4): 576-588.
Dr. Scott did not report having any of the following types of financial relationships with industry during 2012 and/or 2013: consulting, scientific advisory board, industry-sponsored lectures, service on Board of Directors, participation on industry-sponsored committees, equity ownership valued at greater than 5% of a publicly traded company or any value in a privately held company. Please note that this information may differ from information posted on corporate sites due to timing or classification differences.
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