Elin Grundberg Ph.D.
Elin Grundberg completed her MSc (2002) and PhD (2006) at Uppsala University in Sweden, where she worked to identifying genetic determinants underlying human bone-related traits and diseases.
In early 2007 she joined the Department of Human Genetics and the McGill University and Génome Québec Innovation Centre as a postdoctoral fellow. During her time at McGill she developed functional genomic approaches using human cell models as a tool to disentangle the molecular basis of complex disease associations.
In 2009, she was appointed senior postdoctoral researcher jointly at the Wellcome Trust Sanger Institute and Kings’ College London, UK. While there she was the lead analyst for the international TwinsUK-MuTHER Consortium, which included developing a major resource of detailed genomic and transcriptomic data from multiple disease-relevant tissues from female twins to support efforts to understand mechanisms involved in common trait susceptibility.
In October 2012, she returned to McGill University as an Assistant Professor in the Department of Human Genetics. Dr. Grundberg currently collaborates with a number of large research consortia and is the author of almost 50 scientific papers. In the past two years, has been lead author on two publications in Nature Genetics. As a postdoctoral fellow (2006 – 2009), she received multiple salary awards from The Swedish Research Council, The Trone-Holst Foundation, SixtenGemzeus Foundation, Blanceflor Foundation and Swedish Society for Medical Research (SSMF). She was recently (2013) awarded a Tier II Canada Research Chair.
The genetics of common disease susceptibility has flourished with the advent of genome-wide association studies (GWAS), which have uncovered thousands of replicable associations for hundreds of common diseases and traits. A range of common single nucleotide polymorphisms (SNPs) are implicated and these appear to more frequently impact genome regulation rather than coding function. The assessment of chromatin and transcriptome variation at the population level offers the promise to detect environmental effects in genomic disease risk and identification of mechanisms by which disease associated non-coding genetic variants act. The realization of the full potential of integrative disease genomic studies requires, however, carefully phenotyped cohorts, adequate sample sizes, and access to high quality and disease-relevant tissues as well as high-end genomic data production with a multifaceted analytical approach. Our pioneering work on array-based functional association studies of transcriptomes and methylomes in human tissues has elucidated layers of impact for disease SNPs (Grundberg E et al, Genome Res. 2009; Grundberg E et al, Nat Genet 2012, Grundberg et al, AJHG 2013). These existing medium resolution methylome and transcriptome data intersected with genetic variation provides strong support for next-generation genomic approaches of disease phenotypes. Dr. Grundberg is building a comprehensive research program leveraging international collaborations (Uppsala University, Sweden; Wellcome Trust Sanger Institute, UK; King’s College London, UK; Harvard University, US; INSERM, France) as well as local collaborators (Montreal General Hospital, The Lady Davis Institute of Montreal's Jewish General Hospital, Université Laval, Quebec Heart and Lung Institute) for tissue-resources and methodologies essential for contemporary disease genomics and epigenomics with a focus on metabolic diseases and diseases related to women’s health.
Specific research projects include:
- Application of reference epigenome mapping to systematically annotate disease associated variants in disease-targeted human tissues and primary cells (focusing on human adipocytes derived from subcutaneous and visceral adipose tissue, trabecular and cortical bone tissue): The epigenome maps consist of four principle types of data all generated by next-generation sequencing: 1) methylomes at one base-pair resolution achieved by whole-genome sequencing of bisulfite converted DNA (WGBS), 2) chromatin states interrogated by combinations of histone marks using ChIP-seq directed against modified histones enriched at different types of chromatin (active, promoter-associated, enhancer, inactive), 3) strand-specific RNA-sequencing and 4) small RNA sequencing to interrogate microRNAs and small non-coding RNAs.
- Population epigenomics in disease-targeted tissues from twins using whole-genome bisulfite sequencing (WGBS): Using 200 adipose tissue and whole blood derived DNA samples from the MuTHER Twin resource (www.muther.ac.uk) we are applying WGBS for in depth analysis of genetic and non-genetic factors impacting DNA methylation patterns and its effect on metabolic phenotypes and disease status.
- Development of a targeted sequencing approach for assessment of the functional methylome in human adipose tissue: The approach is being applied for studies on genetic and epigenetic factors underlying metabolic syndrome.
- Single-cell genomics, transcriptomics and epigenomics of disease-relevant human tissues: Studies of the cellular basis of transcriptome and epigenome variation in complex tissues (e.g. trabecular bone, subcutaneous adipose) by laser-capture microdissection to develop precise biomarkers applicable in diseases related to women’s health.
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