Astrid Rasmussen, M.D., Ph.D.
Research Associate Professor
Genes & Human Disease Research Program
Research
Sjögren’s syndrome (SS) is a chronic, systemic disease with a clinical presentation of dry eyes and dry mouth associated with immune mediated dysfunction of the exocrine glands. Hallmarks of the autoimmune nature of SS are characteristic lymphocytic infiltrates of the salivary and lacrimal glands and the presence of circulating autoantibodies. Patients affected by SS have wide phenotypic heterogeneity, with some only displaying mild sicca symptoms and others developing debilitating extraglandular manifestations that may result in end organ failure or lymphoma. My research is focused on exploring the molecular and environmental determinants of SS sub-phenotypes, as well as incomplete SS and overlap syndromes by expanding the use of the powerful genomic, transcriptomic and proteomic methodologies available to our lab.
The OMRF Sjögren’s Research Clinic, where we extensively evaluate patients with SS, incomplete SS, and controls, is the source of our biological materials and phenotypic research data. We take advantage of this unique resource to participate in large collaborative projects for SS classification for research, diagnostic and therapeutic guidelines, and research outcome measures.
Another area of research is the genotype-phenotype characterization of monogenic disorders due to unstable microsatellite repeats, namely the autosomal dominant spinocerebellar ataxias. We are currently exploring the role of complex patterns of repeat interruptions in spinocerebellar ataxia type 10 (SCA10) epilepsy sub-phenotypes, in parental gender-mediated repeat instability and anticipation, and in the ancestral origin of the mutant alleles.
The third component of our research is the impact and ethical consequences of research, particularly the findings derived from genetic and genomic studies, to the human subjects participating in research.
Publications
Selected Publications
Scofield RH, Sharma R, Pezant N, Kelly JA, Radfar L, Lewis DM, Kaufman CE, Cioli S, Harris J, Grundahl K, Rhodus NL, Wallace DJ, Weisman MH, Venuturupalli S, Brennan MT, Koelsch KA, Lessard CJ, Montgomery CG, Sivils KL, Rasmussen A. American Indians Have a Higher Risk of Sjogren's Syndrome and More Disease Activity Than European Americans and African Americans. Arthritis Care Res (Hoboken). 2020 Aug;72(8):1049-1056. doi:10.1002/acr.24003. Epub 2020 Jul 5. PMID: 31199565, PMCID: PMC6911033
Hernandez-Castillo CR, Diaz R, Vaca-Palomares I, Torres DL, Chirino A, Campos-Romo A, Ochoa A, Rasmussen A, Fernandez-Ruiz J. Extensive cerebellar and thalamic degeneration in spinocerebellar ataxia type 10. Parkinsonism Relat Disord. 2019 Sep;66:182-188. doi: 10.1016/j.parkreldis.2019.08.011. Epub 2019 Aug 19. PMID: 31445906
Stone DU, Fife D, Brown M, Earley KE, Radfar L, Kaufman CE, Lewis DM, Rhodus NL, Segal BM, Wallace DJ, Weisman MH, Venuturupalli S, Brennan MT, Lessard CJ, Montgomery CG, Scofield RH, Sivils KL, Rasmussen A. Effect of Tobacco Smoking on the Clinical, Histopathological, and Serological Manifestations of Sjogren's Syndrome. PLoS One. 2017 Feb 6;12(2):e017249. doi: 10/1371/journal.pone.0170249. eCollection 2017. PMID: 28166540, PMCID: PMC5293551
Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCAll AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T. Large expansion of ATTCT pentanucleotide repeat in Spinocerebellar Ataxia type 10. Nat Genet 2000; 26(2):191-194.doi: 10.1038/79911. PMID: 11017075
Rasmussen A, Ice JA, Li H, Grundahl K, Kelly JA, Radfar L, Stone DU, Hefner KS, Anaya JM, Rohrer M, Houston GD, Lewis DM, Chodosh J, Harley JB, Hughes P, Maier-Moore JS, Montgomery CG, Rhodus NL, Farris AD, Segal BM, Lessard CH, Scofield RH, Sivils KLM. Comparison of the European-American Consensus Group Sjögren’s Classification Criteria to newly proposed American College of Rheumatology criteria in a well characterized sicca cohort. Ann Rheum Dis 2014;73:31-38. doi:10.1136/annrheumdis-2013-203845. PMID: 23968620. PMCID: PMC3855629.
Shiboski CH, Shiboski SC, Seror R, Criswell C, Labetoulle M, Lietman T, Rasmussen A, Scofield RH, Vitali C, Bowman SJ, Mariette X and the International Working Group on SS Classification Criteria. 2016 American College of Rheumatology/European League Against Rheumatism classification criteria for primary Sjögren's syndrome: A consensus and data-driven methodology involving three international patient cohorts. Ann Rheum Dis. 2017 Jan;76(1):9-16. doi: 10.1136/annrheumdis-2016-210571. PMID: 27789466
Contact
Arthritis & Clinical Immunology Research Program, MS 5
Oklahoma Medical Research Foundation
825 N.E. 13th Street
Oklahoma City, OK 73104
Phone: (405) 271-3478
Fax: (405) 271-3045
E-mail: Astrid-Rasmussen@omrf.org
