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Driving next-generation medicine discovery: Exposing causal biomarker–disease relationships using proteogenomics

This webinar is brought to you by the Science/AAAS Custom Publishing Office

Driving next-generation medicine discovery: Exposing causal biomarker–disease relationships using proteogenomics

10 February 2021

12:00 p.m. ET

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Speakers

Developing the next generation of effective medicines will require approaches that deliver actionable insights into the biological processes and pathways underlying human health and disease. Protein biomarkers are increasingly utilized to stratify patients, predict outcomes and responses, and deepen our understanding of disease pathophysiology. Proteins represent the best real-time markers of dynamic biological processes, but they are not sufficient for researchers to assign a cause-and-effect relationship to the parameter(s) being studied. This issue can be addressed by combining genomics and proteomics to identify protein quantitative trait loci (pQTLs)—genetic variants linked to protein expression levels. Variants proximal to the gene encoding the protein (cis-pQTLs) can be used in combination with associated clinical parameters in Mendelian randomization analysis to identify proteins with a high probability of causal involvement in the disease being studied—proteins that could represent novel drug targets. Additionally, genetic variants distal to the protein-coding genes (trans-pQTLs) can reveal novel molecular connections and pathways involved in disease. The SCALLOP consortium, made up of 28 principal investigators from 25 research institutes, is a collaborative framework for the discovery and follow-up of genetic associations with proteins. Speakers from SCALLOP will discuss how enabling technologies are allowing proteogenomic studies to be performed on a scale not previously possible, and will provide examples of such studies, including one assessing links between angiotensin-converting enzyme 2 (ACE2) expression and COVID-19.

During the webinar, viewers will:

  • Learn about the SCALLOP consortium’s mission and vision to probe the genetics of the human proteome
  • Discover the genetic architecture of 184 circulating proteins related to human disease
  • Hear how genetically predicted ACE2 levels relate to COVID-19 severity
  • Have the opportunity to ask questions during the live broadcast.

This webinar will last for approximately 60 minutes.

Speaker bios

Anders Mälarstig, Ph.D.

Pfizer and Karolinska Institute
Stockholm, Sweden

Dr. Mälarstig received his M.S. in molecular biology and his Ph.D. in cardiovascular genetics from Uppsala University in Sweden in 2001 and 2006, respectively. He did his postdoctoral training at the Karolinska Institutet in Stockholm, where he worked on translational studies of cardiovascular genetics, combining wet-lab research with large, population-based studies. In 2009 he joined Pfizer, where he is now director of Human Genetics. He has combined this work with being a senior researcher at Cambridge University and codirector of the Pfizer/Cambridge University Centre for Cardiovascular Genomics (2011–2013), and, since 2014, has been a senior researcher at the Karolinska Institutet. In his current role, he is responsible for developing and applying strategies for new drug targets and precision medicine. He has extensive experience working in international academic consortia and public–private partnerships such as the SCALLOP consortium, which recently published their first article in Nature Metabolism, entitled “Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.”

Erin Macdonald-Dunlop, M.Sc.

University of Edinburgh
Edinburgh, United Kingdom

Erin Macdonald-Dunlop is a final-year Ph.D. student at the Centre for Global Health Research at the Usher Institute, University of Edinburgh, United Kingdom. She received her undergraduate degree in natural sciences (pathology) from the University of Cambridge and her Master’s in bioinformatics from the University of Edinburgh. Since then, she has worked mainly with large-scale genomic and multiomics data. A focus of her work has been constructing and comparing the performance of novel multiomics biological aging clocks and how they might be applied to predict health outcomes over and above chronological age. She is also the lead analyst for the SCALLOP Consortium’s large-scale, genome-wide meta-analysis of 184 cardiovascular-related plasma proteins. The project involves the discovery of genetic variants associated with plasma protein levels and the identification of causal associations between these protein levels and disease phenotypes, highlighting potential drug targets.

Xia Shen, Ph.D.

University of Edinburgh
Edinburgh, United Kingdom

Dr. Shen is a statistical geneticist specializing in statistical modeling of high-throughput 'omics big data. His interdisciplinary research interests include genetics, statistical inference, and computational biology. Trained as a statistician, he received his Ph.D. in statistical genetics from Uppsala University in Sweden. In 2016, he was appointed as a Chancellor’s Fellow at the University of Edinburgh, United Kingdom, where he was granted tenure in 2020. Shen is also a principal investigator at both the Karolinska Institutet in Sweden and Sun Yat-sen University in China, and he leads an international research group in quantitative genetics and biostatistics.

Sean Sanders, Ph.D.

Science/AAAS
Washington, DC

Dr. Sanders did his undergraduate training at the University of Cape Town, South Africa, and his Ph.D. at the University of Cambridge, UK, supported by the Wellcome Trust. Following postdoctoral training at the National Institutes of Health and Georgetown University, Dr. Sanders joined TranXenoGen, a startup biotechnology company in Massachusetts working on avian transgenics. Pursuing his parallel passion for writing and editing, Dr. Sanders joined BioTechniques as an editor, before joining Science/AAAS in 2006. Currently, Dr. Sanders is the Director and Senior Editor for Custom Publishing for the journal Science and Program Director for Outreach.

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