Dr. Bjornsson’s research focuses on exploring the epigenomic impact of various Mendelian disorders of the epigenetic machinery. He is also interested in epigenetic-based therapeutic development with focus on developing therapies for Mendelian disorders of the histone machinery and imprinting disorders.
Epigenetic modifications offer one plausible way that the environment (both external and internal) can directly affect gene expression. Epigenetic modifications have also been known to minimize disease states by buffering the impact of genetic variants (i.e., agouti viable yellow mouse model). Dr. Bjornsson’s laboratory is interested in developing epigenetic treatment strategies to minimize disease mortality and morbidity caused by genetic mutations. They feel that a logical first place to test epigenetic therapeutic strategies is to develop therapies for specific Mendelian disorders of the epigenetic machinery. Dr. Bjornsson has recently initiated a clinic that focuses on caring for patients with epigenetic disorders, including the imprinting disorders and Mendelian disorders of the epigenetic machinery. In addition to learning from the patients they care for and working towards therapies for these patients, the lab hopes to learn some fundamental truths about epigenetics.
Dr. Bjornsson and his team are interested in:
- Exploring the epigenomic impact of various Mendelian disorders of the epigenetic machinery;
- Epigenetic therapeutic development with focus on developing therapies for disorders of the histone machinery and imprinting disorders;
- Exploring the usefulness of the epigenomic biomarker to monitor disease states or treatment effects.
Sigurdsson MI, Smith AV, Bjornsson HT*, Jonsson JJ*. The distribution of a germline methylation marker suggests a regional mechanism of LINE-1 silencing by the piRNA-PIWI system. BMC Genet. 2012 Apr 24;13:31. PubMed PMID: 22530917. *Co-corresponding authors.
Sigurdsson MI, Smith AV, Bjornsson HT, Jonsson JJ. HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombination. Genome Res. 2009 Feb 20. PMID: 19158364
Wen B, Wu H, Bjornsson H, Green RD, Irizarry R, Feinberg AP. Overlapping euchromatin/heterochromatin- associated marks are enriched in imprinted gene regions and predict allele-specific modification. Genome Res. 2008 Nov;18(11):1806-13. Epub 2008 Oct 10. PMID: 18849526 [PubMed - in process]
Bjornsson HT, Sigurdsson MI, Fallin MD, Irizarry RA, Aspelund T, Cui H, Yu W, Rongione MA, Ekstrm TJ, Harris TB, Launer LJ, Eiriksdottir G, Leppert MF, Sapienza C, Gudnason V, Feinberg AP. Intra-individual change over time in DNA methylation with familial clustering. JAMA. 2008 Jun 25;299(24):2877-83. PMID: 18577732 [PubMed - indexed for MEDLINE]
Bjornsson HT, Albert TJ, Ladd-Acosta CM, Green RD, Rongione MA, Middle CM, Irizarry RA, Broman KW, Feinberg AP. SNP-specific array-based allele-specific expression analysis. Genome Res. 2008 May;18(5):771-9. Epub 2008 Mar 27. PMID: 18369178 [PubMed - indexed for MEDLINE]
Bjornsson HT, Brown LJ, Fallin MD, Rongione MA, Bibikova M, Wickham E, Fan JB, Feinberg AP. Epigenetic specificity of loss of imprinting of the IGF2 gene in Wilms tumors. J Natl Cancer Inst. 2007 Aug 15;99(16):1270-3. Epub 2007 Aug 8. PMID: 17686827 [PubMed - indexed for MEDLINE]
Bjornsson HT, Ellingsen LM, Jonsson JJ. Transposon-derived repeats in the human genome and 5-methylcytosine-associated mutations in adjacent genes. Gene. 2006 Mar 29;370:43-50. Epub 2006 Jan 30. PMID: 16446059 [PubMed - indexed for MEDLINE]
Bjornsson HT, Fallin MD, Feinberg AP. An integrated epigenetic and genetic approach to common human disease. Trends Genet. 2004 Aug;20(8):350-8. PMID: 15262407 [PubMed -indexed for MEDLINE]