Gosia leads the immune genomics group who study how human genetic variation impacts immune system and predisposes to development of autoimmune diseases.
I strongly believe that interdisciplinary approaches are essential to achieve meaningful insights into biological processes. The combination of molecular techniques, genomic assays, and computational methods that we develop and apply to study the immune system is a reflection of my own career path through several disciplines within biology and genetics.
With a backround in molecular biology, I became interested in medical and population genetic approaches to study genetic determinants for immune related diseases. I joined Prof. Cisca Wijmenga's group where I was a co-lead analyst for the genome-wide association study (GWAS) and an Immunochip study for coeliac disease (an immune disease of the small intestine resulting from intolerance to gluten). These studies resulted in identification of tens of disease risk loci and pointed to strong shared genetic backround between celiac disease and a range of other common immune conditions, including type-1 diabetes, rheumatoid arthritis, and inflammatory bowel disease.
Despite our great success in mapping disease risk variants, I was disappointed by the limited insights that we gained in understanding biology of complex immune diseases. I therefore carried out my postdoctoral research at Brigham and Women's Hospital, Harvard Medical School and Broad Institute where I joined Dr. Soumya Raychaudhuri's and Dr. Robert Plenge's groups. I invested my time in developing statistical methods that allow translation of GWAS associations into biological functions. By integrating disease-associated variants with functional genomics data, these approaches pointed to specific cell types being relevant in the pathogenesis of numerous complex traits, including immune diseases. My group at the Sanger Institute continuous with experimental and computational efforts to further map and translate immune disease genetic variants to function.
Apart from science, I am enthusiastic about photography, and you might frequently find me on my road bicycle or playing volleyball.
Partitioning heritability by functional annotation using genome-wide association summary statistics.
Nature genetics 2015;47;11;1228-35
Disentangling the Effects of Colocalizing Genomic Annotations to Functionally Prioritize Non-coding Variants within Complex-Trait Loci.
American journal of human genetics 2015;97;1;139-52
Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases.
American journal of human genetics 2014;95;5;535-52
Regulation of gene expression in autoimmune disease loci and the genetic basis of proliferation in CD4+ effector memory T cells.
PLoS genetics 2014;10;6;e1004404
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
Using chromatin marks to interpret and localize genetic associations to complex human traits and diseases.
Current opinion in genetics & development 2013;23;6;635-41
Chromatin marks identify critical cell types for fine mapping complex trait variants.
Nature genetics 2013;45;2;124-30
Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis.
Nature genetics 2012;44;5;483-9
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease.
Nature genetics 2011;43;12;1193-201
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
PLoS genetics 2011;7;2;e1002004
Multiple common variants for celiac disease influencing immune gene expression.
Nature genetics 2010;42;4;295-302
Common and different genetic background for rheumatoid arthritis and coeliac disease.
Human molecular genetics 2009;18;21;4195-203
Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
Detection, imputation, and association analysis of small deletions and null alleles on oligonucleotide arrays.
American journal of human genetics 2008;82;6;1316-33
Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.
American journal of human genetics 2008;82;5;1202-10
Newly identified genetic risk variants for celiac disease related to the immune response.
Nature genetics 2008;40;4;395-402
Immunochip meta-analysis in European and Argentinian populations identifies two novel genetic loci associated with celiac disease.
European journal of human genetics : EJHG 2019
Chromatin activity at GWAS loci identifies T cell states driving complex immune diseases.
Nature genetics 2019;51;10;1486-1493
Gene expression variability across cells and species shapes innate immunity.
Beating the odds to secure a permanent contract.
Coloc-stats: a unified web interface to perform colocalization analysis of genomic features.
Nucleic acids research 2018