Pre-Event Focus Day Workshop
03 November 2020 | 14:00 – 17:00 BST | 15:00 - 18:00 CET
Join our Diamond Sponsor Takara Bio for a complimentary pre-event focus day workshop
Investigating Human Health And Disease At Single-Cell Resolution
This workshop is bringing together a panel of worldwide experts in single genomics to discuss how human health and disease can be resolved at the single-cell level. Participants will hear how advances in single-cell genomics are leading to a better understanding of complex biological processes at play in various diseases and may pave the way for innovative therapeutic intervention. The many promises and current challenges in bringing single-cell omics in the clinic will also be discussed.
Dr Matthieu Pesant has been the European NGS Product Manager at Takara Bio Europe since 2017 and manages Takara’s RNA-seq and DNA-seq product range including the market leading single-cell NGS technologies SMART-Seq and SMARTer PicoPLEX.
Dr Pesant obtained his PhD in Molecular Biology at the University of Burgundy, France, where he identified regulatory mechanisms of oxidative stress and inflammation relevant to cardiac muscle and atherosclerosis. He then worked as a postdoctoral researcher at the Humanitas Research Center in Milan, Italy, identifying new mechanisms of cellular communication between innate immune cells and cancer cells. He then moved to the National Institute of Molecular Genetics in Milan, Italy, prior to joining Takara Bio Europe, where he contributed to uncover crosstalks between chromatin epigenetic landscapes and genome conformation underlying a genetic muscular dystrophy in human.
14:05 – 14:25
Somatic CNV Detection By Single Cell Whole Genome Sequencing In Multiple System Atrophy, A Sporadic Neurodegenerative Disorder
CHRISTOS PROUKAKIS, PhD, FRCP, Associate Professor, UCL Queen Square Institute of Neurology, and Honorary Consultant Neurologist, Royal Free London NHS Trust, UK | Twitter: @proukakis
14:45 – 15:05
“We use lymphocytes and ES cells as models to study how gene expression patterns are established, transmitted through cell division and changed during development”
We study transcriptional and epigenetic mechanisms that underlie cellular differentiation and explore mechanisms of experimental reprogramming. Our core research activities include the following interrelated areas:
- Reactivation of imprinted and X-linked genes in vitro and in vivo
- Chromosome structure, Pc-G genes and epigenetic inheritance
- The role of 3D genome organisation in gene expression and disease
- Mechanisms of gene regulation by Ikaros and other transcription factor families
By combining classical cell biology and genetics approaches with current technologies we aim to understand how gene expression patterns are regulated during development as well as the consequences of mis-regulation in disease. This mechanistic information can provide a rationale for therapeutic intervention.
Dr. Ilaria Iacobucci, PhD, is a Staff Scientist in the Department of Pathology at St. Jude Children’s Research Hospital, Memphis (USA). She graduated in Medical Biotechnology (Faculty of Medicine and Surgery), with honors, at the University of Bologna in 2004. She subsequently obtained her PhD in Clinical and Experimental Hematology (2005‒2008) at the University of Bologna, progressed to Postdoctoral Research Fellow (2008‒2011) and was promoted to a to a faculty position in the Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Italy (2011-2014). Her research focuses on the understanding of mechanisms underlying the pathogenesis of high-risk myeloid and lymphoid leukemia subtypes in both children and adults through the identification of novel genetic alterations with a diagnostic, prognostic and therapeutic relevance and the development of preclinical in-vitro and in-vivo models which faithfully recapitulate human leukemia. She has published >120 peer-reviewed articles and contributed to the identification of multiple new subtypes of acute lymphoblastic leukemia, such as EPOR-rearranged, DUX4/ERG-deregulated, MEF2D-rearranged and PAX5 P80R mutated. She has defined the genomic landscape of acute erythroid leukemia and identified multiple subgroups with distinct genomic features and transcriptional profiles and generated a number of new engineered mouse models of lymphoid, erythroid and myeloid leukemia that faithfully recapitulate the genetic alterations observed in human diseases. She is a recipient of many international awards, including American Association for Cancer Research -GlaxoSmithKline Outstanding Clinical Scholar Award, Lady Tata Memorial Trust International Award Fellowship, ISSNAF (Italian Scientists and Scholars in North America Foundation) Paola Campese Award for Research on leukemia and first place in UNDER40 in Hematology in 2019 from the Italian Society of Hematology. Her research modeling erythroleukemia was presented as Plenary Scientific presentation at the 60th ASH Annual Meeting and her recent large-scale genomic analysis revising the taxonomy of myeloid disease was presented as Late Breaking Abstract presentation at the 61th ASH Annual Meeting.
Dr. Adey received his undergraduate degree in Biochemistry from the University of Texas where he worked in the lab of Dr. Andrew D. Ellington and served as the interim director of the UT Microarray Core Facility. He then completed his doctoral studies in Molecular and Cell Biology in the lab of Dr. Jay Shendure at the Genome Sciences Department at the University of Washington. During his graduate studies he pioneered several DNA sequencing technologies, including some that are still routinely used around the globe. He also led work to sequence and characterize the genome of the HeLa cancer cell line where he utilized new technologies to provide novel insights into gene regulation in cancer. After completing his graduate studies he started his own independent group in the Department of Molecular and Medical Genetics at the Oregon Health and Science University, where he is now an Associate Professor. He is also a member of the Knight Cancer Institute, the Cancer Early Detection Advanced Research center, and the Knight Cardiovascular Institute. He was also the recipient of the 2018 American Society of Human Genetics Early Career Award. The Adey Lab is currently focused on the development and deployment of single-cell technologies to profile a variety of epigenetic properties with an emphasis on chromatin accessibility as well as the spatial tracking of cell positions. These technologies are being deployed to better understand fundamentals of gene regulation and their implications in neurodevelopment and cancer.
Single-cell technologies have revolutionized how we approach our study of complex biological systems. We have developed a platform for assaying several properties at the single-cell level in high throughput using combinatorial indexing methods, where cells are barcoded multiple times. In order to scale up the number of cell profiles that can be produced without sacrificing data quality, we have increased the index space at each round of cell barcoding with the aid of nanowell chips to enable hundreds of thousands of high quality cell profiles to be generated in a single low-cost experiment.
15:45 – 16:35
Panel formed of all workshop speakers
Andrew obtained his undergraduate degree in physiology from the University of Oxford. He stayed on at Oxford for his doctoral work, researching the control of liver differentiation with Dr. Stephen Goss. After coming to the USA, he did post-doctoral research in the field of tumor suppressor genes, working first with Professor Eric Stanbridge and later with Dr. Wen-Hwa Lee.
Andrew joined Takara Bio USA (TBUSA: formerly Clontech) in 1998 as the developing scientist for the Tet-Systems and was also responsible for inventing a recombination-based cloning technology known as the Creator System. Over the years, he has been responsible for the development of several of Clontech’s product lines, including: Two-hybrid systems, viral delivery and inducible expression systems, and the In-Fusion Cloning system. Most recently, Andrew lead TBUSA’s development of its NGS product line – most notably its suite of ultra-low input RNA-Seq products based on TBUSA’s SMART technology. Currently, he is TBUSA’s CSO / Head of R&D.
From small beginnings a little over a decade ago, since cell genomics has now truly come of age. An array of platforms and methods allow for high-through put analysis of thousands – even millions – of cells across a range of modalities including gene expression, epigenetics and even genomics. The age of consortia – include the Human Cell Atlas, LifeTime and HuBMAP – now seek to apply these technologies to the understanding of human physiology and pathology, building on the groundwork laid by the Human Genome Project. This talk will briefly summarize how single cell genomics is expanding our understanding of both health and disease.