sreda, 7. april 2021 BIOLOŠKI VEČER: Genetics and epigenetics - The partners in resolving the genetic risk of human complex diseases
Oddelek za biodiverziteto UP FAMNIT vabi na
Famnitov biološki večer z naslovom
»Genetics and epigenetics«
»The partners in resolving the genetic risk of human complex diseases«
ki bo v sredo, 14. aprila 2021, ob 19.00,
prek ZOOM povezave.
Predavala bo dr. Mojca Frank Bertoncelj (Center of Experimental Rheumatology - University Hospital Zurich).
ABOUT THE LECTURE: Genetic regions carrying the risk variants for complex diseases, like rheumatoid arthritis, map largely to the noncoding genome. Many of these regions are regulatory in nature and can enhance or inhibit the expression of the nearby or distant (via chromatin looping) target genes. In this way, the effects of the “noncoding” genetic risk variants can translate into changes of the cell’s phenotype. Activities of regulatory regions and their target genes are commonly cell-type specific. Besides, enhancers and inhibitory regions differ in their 3D chromatin structure and epigenetic landscape. By mapping chromatin states, epigenetic marks and 3D chromatin interactions to the genome of disease relevant cell types, we can functionally annotate the genomic risk regions, identify their target genes and determine cell types that carry the genetic risk. Lymphocytes T have long been known as the only cell types attributing significantly to heritability of rheumatoid arthritis. In this lecture, dr. Frank Bertoncelj will show that the resident stromal cells of a joint, specifically the fibroblast-like synoviocytes, notably contribute to heritability of rheumatoid arthritis. Dr. Frank will introduce fibroblast-like synoviocytes, their functional diversity and their roles in rheumatoid arthritis. She will show how the integration of genetic and epigenetic knowledge leads to identification of key genetic risk variants in disease-relevant cells defining heritability of complex diseases. Additionally, she will exemplify, how we can study these regions functionally by using the genome editing tools such as CRISPR Cas.
ABOUT THE LECTURER: Dr. Mojca Frank Bertoncelj is a doctor of medicine with a doctorate in Biomedicine from University of Ljubljana. She is a member and collaborator of the national research program Systemic Autoimmune Diseases at the University Medical Center Ljubljana. Since 2011 she has been employed at the University of Zurich / University Hospital Zurich, where she conducts independent research with special emphasis on functional genomics, epigenomics, non-coding RNA, single-cell transcriptomics, JAK STAT signaling and stromal cell biology in rheumatoid arthritis. She has received several international research awards, including the prestigious Walter-Siegenthaler Medaille and Silber 2018, for her research on the susceptibility of certain joints to the development of different types of arthritis. She has research collaborations with leading European laboratories in the field of stromal cell biology and arthritis genetics and is a reviewer for scientific journals, including Nature Communications, Nature Reviews Rheumatology and Annals of Rheumatic Diseases. Dr. Frank publishes articles in high impact journals, including Science Signaling, Nature Reviews and Rheumatology, Nature Communications, and Annals of Rheumatic Diseases.