Mine Koprulu - MRC Epidemiology Unit, University of Cambridge 

Mine is currently a 3rd year PhD student at MRC Epidemiology Unit, University of Cambridge and a Gates Cambridge scholar. She has a background in human genetics with an undergraduate degree from UCL and a MPhil degree in Genomic Medicine from University of Cambridge. Her PhD focuses on facilitating clinical translation of genomic findings by utilizing recent technologies such as whole-exome sequencing or broad capture, high-throughput proteomics to elucidate causal genes and proteins underlying complex diseases.

'Proteogenomic links to human diverse human diseases'

Studying the plasma proteome as the intermediate layer between the genome and the phenome has the potential to identify new disease processes. Here, we conducted a cis-focused proteogenomic analysis of 2,923 plasma proteins measured in 1,180 individuals using antibody-based assays. We (1) identify 256 unreported protein quantitative trait loci (pQTL); (2) demonstrate shared genetic regulation of 224 cis-pQTLs with 575 specific health outcomes, revealing examples for notable metabolic diseases (such as gastrin-releasing peptide as a potential therapeutic target for type 2 diabetes); (3) improve causal gene assignment at 40% (n = 192) of overlapping risk loci; and (4) observe convergence of phenotypic consequences of cis-pQTLs and rare loss-of-function gene burden for 12 proteins, such as TIMD4 for lipoprotein metabolism. Our findings demonstrate the value of integrating complementary proteomic technologies with genomics even at moderate scale to identify new mediators of complex diseases with the potential for therapeutic interventions.

Dr. Stefan Schoenfelder - Illumina guest speaker - Babraham Institute and Enhanc3D Genomics

Dr. Stefan Schoenfelder studied molecular and cellular biology at the University of Heidelberg, where he also did his PhD in the lab of Professor Renato Paro. He then joined Peter Fraser's team at the Babraham Institute in Cambridge to study how gene expression is coordinated in three dimensions in mammalian nuclei. In Peter's lab, he developed a method to link enhancers genome-wide with their target gene promoters. This technology has led to the spin-out company Enhanc3D Genomics, where he currently serve as chief scientific officer, in addition to his role as team leader at the Babraham Institute. 

Short introduction from Illumina followed by presentation 'Cis-regulatory control of pluripotent stem cell fates'

Enhancers are key gene regulatory elements in the non-coding genome that coordinate spatiotemporal gene expression programmes during development, often over large genomic distances. How remote enhancers relay regulatory information to their target promoters has been described as one of the 'central mysteries of genome function and organisation'. Despite their crucial importance for normal development, only relatively few enhancers have been studied in molecular detail, and their target genes are largely unknown. I will present methodology that we have developed to identify target genes of enhancers genome-wide at high resolution, and I will talk about the insights we have gained from applying this methodology to a range of biological systems and questions. Further, I will present our unpublished work on a novel class of non-canonical enhancers that we have recently discovered in human induced pluripotent stem cells, challenging the current view that enhancers can be identified solely on the basis of a unifying chromatin signature.

Dr. Ana Toribio - University of Cambridge

Originally from Uruguay, Ana completed her PhD studies at Wolfson College, University of Cambridge, following her master's lab work in biotechnology at the Institute Pasteur in Paris. With a background in genomics, she conducted postdoctoral research at the Wellcome Trust Sanger Institute and worked at the European Bioinformatics Institute (EMBL-EBI). Ana then broadened her horizons by completing an MBA and joining SiGenex, a start-up focused on accessible genetic testing. In 2022, she assumed the role of Head of the Stratified Medicine Core Laboratory (SMCL NGS Hub) at the University of Cambridge's Department of Medical Genetics. Embedded within NHS premises, this genomics facility aims to facilitate genomic translational research.

'Expanding Horizons: Introducing SMCL NGS Hub, a Genomic Facility exploring Proteomic Services to the Cambridge Biomedical Campus'

The SMCL NGS Hub, the NIHR genomic core facility, is a cutting-edge genomic facility at the Cambridge Biomedical Campus, facilitating genomic research and its translation into clinical practice. During the presentation, we will delve into the capabilities and scope of SMCL NGS Hub, highlighting its state-of-the-art technology and advanced infrastructure. With a focus on genomics, our facility aims to provide comprehensive and high-throughput NGS services to researchers, clinicians, and industry professionals within the campus and beyond.

However, we won't stop there. We are thrilled to announce that SMCL NGS Hub is looking to expand its services to include proteomics, a pivotal area in the field of biomedical research. By leveraging the latest advancements in proteomic analysis, we aim to enable researchers to uncover crucial insights into the intricacies of protein function and interactions, opening up new avenues for discovery and therapeutic development. Moreover, we will emphasise the integration of genomics and proteomics, demonstrating how these complementary approaches can synergistically enhance our understanding of complex biological processes and diseases.

Sarantis Chlamydas - Olink Proteomics 

Dr. Chlamydas is a Scientific Director specializing in MultiOmics at Olink Proteomics. He conducted his PhD in Molecular Biology and Genetics at the University of Bari and the Max Planck Institute of Immunobiology and Epigenetics. He continued his research as a research fellow in the Max Planck Institute, leading Epigenetics and Gene regulation projects applying MultiOmics approaches. During his appointments, he established a number of international collaborations with academic sites and pharma companies. Since 2020, he is a member of the University Research Institute of Athens with the honorary title of Researcher, Assistant Professor level. Dr. Chlamydas joined Olink at the end of 2021 where he leads global efforts and strategy to advance Olink in the field of MultiOmics.

'Next-generation proteomics in the era of Omics and precision medicine'

Olink’s unique proximity extension assay (PEA) technology enables high-throughput, multiplex immunoassays of up to 3000 proteins in a single sample while consuming minimal sample volumes (<10 µL). Olink PEA™ technology has been thoroughly validated using serum and plasma, and offers utility on alternative matrices. Due to the fact that the protein library, which continuously expands, covers all major biological pathways the applications are in numerous disease areas, such as cancer, immunological and inflammation disorders. In this scientific seminar we will discuss our capabilities and we will present case studies highlighting the importance of NGS proteomics in the Omics world. Precision proteomics provides a holistic view and is a fundamental component of “Real Time” Biology. The Proteome responds precisely to external stimuli such drug therapies, environmental changes,.. thus is an essential component in MultiOmics approaches enabling precision medicine and therapies.