The research group in Molecular Medicine headed by Professor Ann-Christine Syvänen was started in 1998. Since the start we have been located at the Research Department of Uppsala University Hospital.
 

  Our research group studies human diseases using modern methods for genomics and epigenetics. We develop novel methods for genome analysis, establish these methods at the department, and apply them to medical or biological problems within the group and together with clinical collaborators. Our core technology is “minisequencing” primer extension pioneered by us.
 

  The research group in Molecular Medicine has seventeen members working with research projects in human genetics and techn ology development. Our research group is a partner in the European research projects: Cardiogenics, ENGAGE, Procardis, Geuvadis and ESGI (European Sequencing and Genotyping Infrastructure). The results of our work have been published as original articles in international journals and we have written review articles, PhD theses and book chapters related to our work.
 

  We co-organize and teach courses in Molecular Medicine and genotyping and sequencing technology targeted at students of different levels.

Ten favorite publications from the Molecular Medicine group:

• Nordlund et al. (2011) Digital gene expression profiling of primary acute lymphoblastic leukemia cells. Leukemia. 2011 Dec 16 (Online)
• Milani L, et al. (2010) DNA methylation for subtype classification and prediction of treatment outcome in patients with childhood acute lymphoblastic leukemia. Blood, 115(6), 1214-1225
• Gateva et al. (2009) A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Genet, 41(11), 1228-1233
• Milani L, et al. (2009) Allele-specific gene expression patterns in primary leukemic cells reveal regulation of gene expression by CpG site methylation. Genome Res, 19(1), 1-11
• Chen et al. (2008) High-resolution, high-throughput SNP mapping in Drosophila melanogaster.Nat Methods, 5(4):323-329 
• Hom et al. (2008) Association of Systemic Lupus Erythematosus with C8orf13–BLK and ITGAM–ITGAX.N Engl J Med, 358(9):900-909 
• Syvänen (2005) Toward genome-wide SNP genotyping. Nat Genet, 37 S5-10
• Sigurdsson et al. (2005) Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus. Am J Hum Genet, 76:528-537
• Lovmar et al. (2003) Quantitative evaluation by minisequencing and microarrays reveals accurate multiplexed SNP genotyping of whole genome amplified DNA. Nucleic Acids Res, 31:e129d
• Syvänen (2001) Accessing genetic variation: Genotyping single nucleotide polymorphisms. Nat Rev Genet, 2:930-942