Human GenomicsThe Geisinger MyCode Project is a system-wide biorepository for broad research use that is linkable to Geisinger’s electronic medical record database. By early 2013 >40,000 Geisinger patients had consented to participate; enrollment is ongoing. More than 10,000 DNA samples have undergone genome wide genotyping; additional analysis is underway. Genomic data is combined with data in Geisinger’s clinical database for genetic association or phenome wide association studies. Algorithms for phenotyping using health record data are developed and validated, creating a versatile pipeline for genomic discovery. We are also developing methods for incorporating genomic information into clinical practice. One example involves preemptive sequencing of a pharmacogenomic gene panel for drug prescribing.
Abdominal Aortic AneurysmAAAs are the 13th leading cause of death in the US. Most AAA-related deaths result from rupture of undiagnosed aneurysms. Research is underway to identify genetic and non-genetic risk factors for AAA and AAA-related complications, with the goal of developing novel therapies and better risk assessment. A research cohort of 1,000 Geisinger AAA cases and several thousand controls has been created. Whole genome and exome genotyping and next-gen sequencing of a subset of cases has been completed. Clinical and demographic data from Geisinger’s electronic health record database were also analyzed. These data are being used to create a AAA risk algorithm that will be evaluated for its utility to guide outpatient screening.
Extracellular Matrix BiologyA long-term research interest is the role of ECM in modulating cellular function. We are currently investigating the role of ECM collagens in adipocyte differentiation and function. Expression of collagens and collagen receptors is regulated during adipocyte differentiation. Inhibitor studies showed that these gene products are critical for adipocyte differentiation and function. Current efforts are focused on elucidating the underlying molecular pathways in adipocyte cells lines and mouse models.
- Helgadottir A, Gretarsdottir S, Thorleifsson G, Holm H, Patel RS, Gudnason T, Jones GT, van Rij AM, Eapen DJ, Baas AF, Tregouet DA, Morange PE, Emmerich J, Lindblad B, Gottsäter A, Kiemeny LA, Lindholt JS, Sakalihasan N, Ferrell RE, Carey DJ, Elmore JR, Tsao PS, Grarup N, Jørgensen T, Witte DR, Hansen T, Pedersen O, Pola R, Gaetani E, Magnadottir HB, Wijmenga C, Tromp G, Ronkainen A, Ruigrok YM, Blankensteijn JD, Mueller T, Wells PS, Corral J, Soria JM, Souto JC, Peden JF, Jalilzadeh S, Mayosi BM, Keavney B, Strawbridge RJ, Sabater-Lleal M, Gertow K, Baldassarre D, Nyyssönen K, Rauramaa R, Smit AJ, Mannarino E, Giral P, Tremoli E, de Faire U, Humphries SE, Hamsten A, Haraldsdottir V, Olafsson I, Magnusson MK, Samani NJ, Levey AI, Markus HS, Kostulas K, Dichgans M, Berger K, Kuhlenbäumer G, Ringelstein EB, Stoll M, Seedorf U, Rothwell PM, Powell JT, Kuivaniemi H, Onundarson PT, Valdimarsson E, Matthiasson SE, Gudbjartsson DF, Thorgeirsson G, Quyyumi AA, Watkins H, Farrall M, Thorsteinsdottir U, Stefansson K. (2012, Aug). Apolipoprotein(a) genetic sequence variants associated with systemic atherosclerosis and coronary atherosclerotic burden but not with venous thromboembolism. J Am Coll Cardiol , 60(8), 722-9. Full Text
- Still CD, Wood GC, Chu X, Erdman R, Manney CH, Benotti PN, Petrick AT, Strodel WE, Mirshahi UL, Mirshahi T, Carey DJ, Gerhard GS. (2011, Aug). High allelic burden of four obesity SNPs is associated with poorer weight loss outcomes following gastric bypass surgery. Obesity , 19(8), 1676-83. Full Text
- Mirxhahi UL, Still CD, Masker KK, Gerhard GS, Carey DJ, Mirshahi T. (2011, Dec). The MC4R(I251L) allele is associated with better metabolic status and more weight loss after gastric bypass surgery. J Clin Endocrinol Metab , 96(12) E2088-96.
- Lillvis JH, Erdman R, Schworer CM, Golden A, Derr K, Gatalica Z, Cox LA, Shen J, Vander Heide RS, Lenk GM, Hlavaty L, Li L, Elmore JR, Franklin DP, Gray JL, Garvin RP, Carey DJ, Lancaster WD, Tromp G, Kuivaniemi H. (2011, May). Regional expression of HOXA4 along the aorta and its potential role in human abdominal aortic aneurysms. BMC Physiol , 11, 9. Full Text
- Gretarsdottir S, Baas AF, Thorleifsson G, Holm H, den Heijer M, de Vries JP, Kranendonk SE, Zeebregts CJ, van Sterkenburg SM, Geelkerken RH, van Rij AM, Williams MJ, Boll AP, Kostic JP, Jonasdottir A, Jonasdottir A, Walters GB, Masson G, Sulem P, Saemundsdottir J, Mouy M, Magnusson KP, Tromp G, Elmore JR, Sakalihasan N, Limet R, Defraigne JO, Ferrell RE, Ronkainen A, Ruigrok YM, Wijmenga C, Grobbee DE, Shah SH, Granger CB, Quyyumi AA, Vaccarino V, Patel RS, Zafari AM, Levey AI, Austin H, Girelli D, Pignatti PF, Olivieri O, Martinelli N, Malerba G, Trabetti E, Becker LC, Becker DM, Reilly MP, Rader DJ, Mueller T, Dieplinger B, Haltmayer M, Urbonavicius S, Lindblad B, Gottsäter A, Gaetani E, Pola R, Wells P, Rodger M, Forgie M, Langlois N, Corral J, Vicente V, Fontcuberta J, España F, Grarup N, Jørgensen T, Witte DR, Hansen T, Pedersen O, Aben KK, de Graaf J, Holewijn S, Folkersen L, Franco-Cereceda A, Eriksson P, Collier DA, Stefansson H, Steinthorsdottir V, Rafnar T, Valdimarsson EM, Magnadottir HB, Sveinbjornsdottir S, Olafsson I, Magnusson MK, Palmason R, Haraldsdottir V, Andersen K, Onundarson PT, Thorgeirsson G, Kiemeney LA, Powell JT, Carey DJ, Kuivaniemi H, Lindholt JS, Jones GT, Kong A, Blankensteijn JD, Matthiasson SE, Thorsteinsdottir U, Stefansson K. (2010, Aug). Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm. nat Genet , 42(8), 692-7.
EducationPhD, St. Louis University, 1980
Postdoctoral Training, Washington University, 1980-1982