FA 5 Progress Report WV-INBRE - Joan C. Edwards School of ...

Program Director/Principal Investigator (Last, First, Middle): Rankin, Gary O 69is associated with lipid traits in familial combined hyperlipidemia. Hum. Genet. 127: 83-9, 2010.21. GS Berenson, SR Srinivasan, W Bao, WPIII Newman, RE Tracy, WA Wattigney. Associationbetween multiple cardiovascular risk factors and the early development of atherosclerosis.Bogalusa Heart Study. N. Engl. J. Med. 338:1650–1656 (1998)22. SR Daniels, FR Greer, and the Committee on Nutrition. Lipid Screening and CardiovascularHealth in Childhood Pediatrics 122: 198-208 (2008)23. Y Kuromori, T Okada, F Iwata, M Hara, N Noto, K Harada. Familial combined hyperlipidemia(FCHL) in children: The significance of early development of hyperapoB lipoproteinemia, obesityand aging. J. Atheroscler. Throm. 9: 314-320 (2002)24. Ng SB, Bigham AW, Buckingham KJ, et al. Exome sequencing identifies MLL2 mutations as acause of Kabuki syndrome. Nature Genetics 2010(a), 42:790-3.25. Ng SB, Buckingham KJ, Lee C, et al. Exome sequencing identifies the cause of a mendeliandisorder. Nature Genetics 2010(b), 42:30-35.26. Sobreira NL, Cirulli ET, Avramopoulos D, Wohler E, Oswald GL, Stevens EL, Ge D, ShiannaKV, Smith JP, Maia JM, Gumbs CE, Pevsner J, Thomas G, Valle D, Hoover-Fong JE, GoldsteinDB. Whole-genome sequencing of a single proband together with linkage analysis identifies aMendelian disease gene. PLoS Genetics 2010, 6:e100099127. Cirulli ET, Goldstein DB. Uncovering the roles of rare variants in common disease throughwhole-genome sequencing. Nature Reviews Genetics 2010, 11:415-25.28. Civeira F, Jarauta E, Cenarro A, et al. Frequency of Low-Density Lipoprotein Receptor GeneMutations in Patients With a Clinical Diagnosis of Familial Combined Hyperlipidemia in a ClinicalSetting. Journal of the American College of Cardiology 2008, 52:1546-53.29. Jarvik GP, Brunzell JD, Motulsky AG. Frequent Detection of Familial HypercholesterolemiaMutations in Familial Combined Hyperlipidemia. Journal of the American College of Cardiology2008, 52:1554-6.30. Van Leuven F, Thiry E, Lambrechts M, et al. Sequencing of the coding exons of the LRP1 andLDLR genes on individual DNA samples reveals novel mutations in both genes. Atherosclerosis2001, 154:567-577.PROTECTION AGAINST RESEARCH RISKSY 1. Will human subjects be involved next year?If yes, provide complete the above Targeted/Planned Enrollment Table and the Inclusion EnrollmentReport. Provide the date of IRB approval and enclose with transmittal.03/25/2011;01/25/2012N 2. Will vertebrate animals be used next year?Y 3. Will recombinant DNA experiment(s) be conducted next year?If yes, provide the date of Office of Recombinant DNA Activities (ORDA), NIH approval:EXEMPTY 4. Are there potential hazards to laboratory workers (carcinogens, pathogens, ionizing radiation, etc.)involved in the proposed research for next year? If yes, identify:NBloodborne pathogens, human cell lines5. Will any of the research-risk categories,not involved next year, be involved future years? If yes, identify:PHS 2590 (Rev. 06/09)Continuation Format Page