Meet our confirmed conference speakers for this year’s conference and find out more about their background and work.
Annemieke Aartsma-Rus is a Professor of translational genetics at Leiden University Medical Center, Leiden, Netherlands
Principal interest(s): Duchenne muscular dystrophy, dystrophin, exon skipping, antisense oligonucleotides
Area(s) of research: Exon skipping therapy development for Duchenne muscular dystrophy
Principal interest(s): Duchenne muscular dystrophy, dystrophin, exon skipping, antisense oligonucleotides
Area(s) of research: Exon skipping therapy development for Duchenne muscular dystrophy
Annemieke Aartsma-Rus will be giving a talk about “Lessons learnt from the “DMD saga”: from genetics to clinical trials”.
Robin Andersson is an associate professor of Department of Biology at
University of Copenhagen, Denmark
Principal interest(s): Transcriptional regulation; regulatory elements; regulatory variation; computational biology; machine learning
Area(s) of research: Robin Andersson is an Associate professor of Bioinformatics at the Department of biology, University of Copenhagen. His main expertise is in genomics approaches for enhancer activity profiling and computational modelling of transcriptional regulation. The main objective of his research is to characterize and better understand the architectures of transcriptional regulation, the fundamental properties of regulatory elements, and the determinants of enhancer and promoter function. To this end, the Andersson lab performs computational analyses and modelling of transcriptional regulation based on large-scale sequencing data of transcription initiation events and other genomics data.
University of Copenhagen, Denmark
Principal interest(s): Transcriptional regulation; regulatory elements; regulatory variation; computational biology; machine learning
Area(s) of research: Robin Andersson is an Associate professor of Bioinformatics at the Department of biology, University of Copenhagen. His main expertise is in genomics approaches for enhancer activity profiling and computational modelling of transcriptional regulation. The main objective of his research is to characterize and better understand the architectures of transcriptional regulation, the fundamental properties of regulatory elements, and the determinants of enhancer and promoter function. To this end, the Andersson lab performs computational analyses and modelling of transcriptional regulation based on large-scale sequencing data of transcription initiation events and other genomics data.
Robin Andersson will be giving a talk about “How to enhance your genome – Regulatory networks and enhancers”.
David Balding is Professor of Statistical Genetics, Director of Melbourne Integrative Genomics at University of Melbourne, Parkville, Australia
Principal interest(s): I work in a broad range of computational/statistical approaches to genetic/genomic data, predominantly human data but also other organisms. These include genome-wide models to understand the genetic architecture of complex traits, as well as inferences of ancestry and relatedness.
Area(s) of research: Statistical genetics, population genetics, genetic epidemiology, forensic genetics, evolution
Principal interest(s): I work in a broad range of computational/statistical approaches to genetic/genomic data, predominantly human data but also other organisms. These include genome-wide models to understand the genetic architecture of complex traits, as well as inferences of ancestry and relatedness.
Area(s) of research: Statistical genetics, population genetics, genetic epidemiology, forensic genetics, evolution
David Balding will be giving a talk about “How are the causes of complex disease distributed in the human genome?”.
Renée Beekman is Research Group Leader at Centre for Genomic Regulation (CRG), Barcelona, Spain
Principal interest(s): Gene regulation, Epigenetics, 3D Genome, Lymphoma and Leukemia, Single Cells, Bioinformatics
Area(s) of research: In our lab we aim to study the heterogeneity of oncogenic events in healthy and pre-malignant cells in vitro and in vivo using single-cell technologies. On top of that, we aim to define cell intrinsic mechanisms, such as enhancer activation and 3D chromatin interactions, that influence the observed heterogeneity. Altogether, we aim to create new insights into the source of epigenetic oncogenic lesions to create a better understanding of the complex process of tumor formation.
Principal interest(s): Gene regulation, Epigenetics, 3D Genome, Lymphoma and Leukemia, Single Cells, Bioinformatics
Area(s) of research: In our lab we aim to study the heterogeneity of oncogenic events in healthy and pre-malignant cells in vitro and in vivo using single-cell technologies. On top of that, we aim to define cell intrinsic mechanisms, such as enhancer activation and 3D chromatin interactions, that influence the observed heterogeneity. Altogether, we aim to create new insights into the source of epigenetic oncogenic lesions to create a better understanding of the complex process of tumor formation.
Renée Beekman will be giving a talk about “Epigenomics of single cells in cancer”.
Heidi Beate Bentzen is a Researcher Norwegian Research Center for Computers and Law, University of Oslo, Norway
Principal interest(s): Privacy and data protection law in health and genetics, biotechnology law, and bioethics. Particularly the legal regulation of precision medicine, artificial intelligence, and data sharing and reuse of health and genetic data across contextual and/or jurisdictional borders.
Area(s) of research: Law and ethics.
Principal interest(s): Privacy and data protection law in health and genetics, biotechnology law, and bioethics. Particularly the legal regulation of precision medicine, artificial intelligence, and data sharing and reuse of health and genetic data across contextual and/or jurisdictional borders.
Area(s) of research: Law and ethics.
Heidi Beate Bentzen will be giving a talk about “How to transfer genomic data internationally in compliance with the GDPR”.
Stephanie Best is a Senior Research Fellow, Melbourne, Australia
Principal interest(s): Dr Stephanie Best is a health services researcher focusing on the use of implementation science: translating evidence into real-world practice and policy. She has had an extensive clinical and management career as a Chartered Physiotherapist and became interested in why it can sometimes, despite the evidence, be hard to see a change in practice. A PhD followed and several years later Stephanie is now working with Australian Genomics, researching the implementation of genomic services into the Australian healthcare system.
Area(s) of research: Influences on implementation, implementation interventions, scaling up and sustainability, leadership, professional identity
Principal interest(s): Dr Stephanie Best is a health services researcher focusing on the use of implementation science: translating evidence into real-world practice and policy. She has had an extensive clinical and management career as a Chartered Physiotherapist and became interested in why it can sometimes, despite the evidence, be hard to see a change in practice. A PhD followed and several years later Stephanie is now working with Australian Genomics, researching the implementation of genomic services into the Australian healthcare system.
Area(s) of research: Influences on implementation, implementation interventions, scaling up and sustainability, leadership, professional identity
Stephanie Best will be giving a talk about “The art, science and practice of implementing genomics in clinical care”.
Leslie Biesecker is Director of the Center for Precision Health Research at
National Human Genome Research Institute at the National Institutes of Health, Bethesda, United States
Principal interest(s): Clinical Genomics
Mosaic overgrowth disorders
Area(s) of research: Clinical Genomics
Mosaic overgrowth disorders
National Human Genome Research Institute at the National Institutes of Health, Bethesda, United States
Principal interest(s): Clinical Genomics
Mosaic overgrowth disorders
Area(s) of research: Clinical Genomics
Mosaic overgrowth disorders
Leslie Biesecker will be giving a talk about “Regional overgrowth”.
Boyan Bonev is a group leader at Pioneer Campus, Helmholtz Zentrum München, Munich, Germany
Principal interest(s): Cerebral cortex – development, evolution and disease epigenetics, regulatory genomics, gene expression
Area(s) of research: The long-term objective of the Bonev Lab is to decipher the genetic and epigenetic blueprints of cortical development and evolution. To accomplish this, we study the interplay between transcription factors, 3D nuclear organization and gene expression in vivo and using cerebral organoids. Our research is highly interdisciplinary and combines developmental neurobiology, single cell –omics, mouse genetics, CRISPR-based techniques and computational biology.
Principal interest(s): Cerebral cortex – development, evolution and disease epigenetics, regulatory genomics, gene expression
Area(s) of research: The long-term objective of the Bonev Lab is to decipher the genetic and epigenetic blueprints of cortical development and evolution. To accomplish this, we study the interplay between transcription factors, 3D nuclear organization and gene expression in vivo and using cerebral organoids. Our research is highly interdisciplinary and combines developmental neurobiology, single cell –omics, mouse genetics, CRISPR-based techniques and computational biology.
Boyan Bonev will be giving a talk about “Creating, integrating and joint analysis of state-of-the-art single-cell multi-omics data”.
Alessio Cantore is a group leader at San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), Milan, Italy
Area(s) of research: Liver gene therapy
Liver tissue dynamics
Area(s) of research: Liver gene therapy
Liver tissue dynamics
Alessio Cantore will be giving a talk about “Creating, integrating and joint analysis of state-of-the-art single-cell multi-omics data”.
Antonio Capalbo is Scientific and Laboratory Director at Igenomix Italy and Senior Deputy of the ESHRE Special Interest Group in Reproductive Genetics, Rome, Italy
Principal interest(s): His scientific interest focuses on preimplantation genetic testing and the development of novel molecular techniques and embryo biopsy protocols to improve pregnancy and take-home baby rates in ART; basic research is focused on the mechanisms of aneuploidies in oocytes and preimplantation human embryos.
Area(s) of research: He has developed substantial expertise in Preimplantation Genetic Testing, IVF and clinical embryology, Preconception Carrier Screening, Human Genetics.
Principal interest(s): His scientific interest focuses on preimplantation genetic testing and the development of novel molecular techniques and embryo biopsy protocols to improve pregnancy and take-home baby rates in ART; basic research is focused on the mechanisms of aneuploidies in oocytes and preimplantation human embryos.
Area(s) of research: He has developed substantial expertise in Preimplantation Genetic Testing, IVF and clinical embryology, Preconception Carrier Screening, Human Genetics.
Antonio Capalbo will be giving a talk about “Status of PGT and embryo selection in the era of NGS”.
Hans Clevers is a Professor of Molecular Genetics at University Utrecht,
Principal Investigator at Hubrecht Institute of the Royal Netherlands Academy and at Prinses Máxima Centrum for Pediatric,
Oncology and Oncode Investigator at Oncode Institute, Utrecht, The Netherlands
Principal Investigator at Hubrecht Institute of the Royal Netherlands Academy and at Prinses Máxima Centrum for Pediatric,
Oncology and Oncode Investigator at Oncode Institute, Utrecht, The Netherlands
Hans Clevers will be giving a talk about “Human stem cells-based organoids for personalized disease modelling in human genetics”.
Sofia Douzgou Houge is a senior consultant at the Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway
Principal interest(s): Dysmorphology, Genomic syndromology, developmental genetics
Area(s) of research: Rare Developmental Disorders
Principal interest(s): Dysmorphology, Genomic syndromology, developmental genetics
Area(s) of research: Rare Developmental Disorders
Sofia Douzgou Houge will be giving a talk about “Telemedicine in Genetics Services”.
Thomas Eggermann is an Assistant Professor at Institute of Human Genetics, Medical Faculty, RWTH Aachen, Germany
Principal interest(s): Imprinting Disorders, Mongenetic Disorders, Chromosomal Disorders
Area(s) of research: Imprinting Disorders
Principal interest(s): Imprinting Disorders, Mongenetic Disorders, Chromosomal Disorders
Area(s) of research: Imprinting Disorders
Thomas Eggermann will be giving a talk about “Genetic basis of imprinting disordes”.
Evan Eichler is a Professor at University of Washington & Howard Hughes Medical Institute, Seattle, United States
Principal interest(s): Genome Sciences
Principal interest(s): Genome Sciences
Evan Eichler will be giving a talk about “Genome architecture and disease”.
Valentina Escott-Price is a Professor in Biostatistics and Bioinformatics at Cardiff University, Cardiff, United Kongdom
Principal interest(s): My main research interest is to undertake integrative analyses and provide biological meaning to the basic genetic data in order to contribute to the identification of new risk genes and biological pathways for psychiatric and neurodegenerative disorders. The power and accuracy of my models and analyses are achieved by accessing UK national and international big data resources of deeply phenotyped data with millions of genetic variants, by my deep understanding and extensive expertise in dementia research, and by my solid training in mathematics.
Area(s) of research: Genetics, genomics, polygenic risk scoring, methodology development for genetic data analyses.
Principal interest(s): My main research interest is to undertake integrative analyses and provide biological meaning to the basic genetic data in order to contribute to the identification of new risk genes and biological pathways for psychiatric and neurodegenerative disorders. The power and accuracy of my models and analyses are achieved by accessing UK national and international big data resources of deeply phenotyped data with millions of genetic variants, by my deep understanding and extensive expertise in dementia research, and by my solid training in mathematics.
Area(s) of research: Genetics, genomics, polygenic risk scoring, methodology development for genetic data analyses.
Valentina Escott-Price will be giving a talk about “Polygenic risks in disorders of aging”.
Gerry Evers-Kiebooms is an Emeritus Professor at Department of Human Genetics, KU Leuven, Leuven, Belgium
Principal interest(s): In 1977 immediately after obtaining her doctorate in psychology with a dissertation about “Mathematical models for the analysis of preference data” she started working in the Center for Human Genetics of the University Hospitals Leuven. She founded and developped the Psychosocial Genetics Unit with three objectives: (1) Research about the psychological aspects of genetics, (2) Clinical practice in the context of predictive testing for late onset disease and (3) Public education about genetic risk, genetic counselling and genetic testing. During a long period she was active in the European Society for Human Genetics, initially as co-chair of the EMPAG meetings and as a member of the Public and Professional Policy Committee and later also as a member of the Board. She was a member of the Belgian Advisory Committee on Bioethics during the period 1996-2014.
Area(s) of research: (1) Genetic risk perception, decision making involving genetic risk and psychological impact of genetic testing in families confronted with genetic disease (2) Opinions about genetics and genetic testing in the population at large and in specific subgroups. Over the years an increasing focus on predictive testing as well as prenatal/preimplantation testing for late onset disease.
Principal interest(s): In 1977 immediately after obtaining her doctorate in psychology with a dissertation about “Mathematical models for the analysis of preference data” she started working in the Center for Human Genetics of the University Hospitals Leuven. She founded and developped the Psychosocial Genetics Unit with three objectives: (1) Research about the psychological aspects of genetics, (2) Clinical practice in the context of predictive testing for late onset disease and (3) Public education about genetic risk, genetic counselling and genetic testing. During a long period she was active in the European Society for Human Genetics, initially as co-chair of the EMPAG meetings and as a member of the Public and Professional Policy Committee and later also as a member of the Board. She was a member of the Belgian Advisory Committee on Bioethics during the period 1996-2014.
Area(s) of research: (1) Genetic risk perception, decision making involving genetic risk and psychological impact of genetic testing in families confronted with genetic disease (2) Opinions about genetics and genetic testing in the population at large and in specific subgroups. Over the years an increasing focus on predictive testing as well as prenatal/preimplantation testing for late onset disease.
Gerry Evers-Kiebooms will be giving a talk about “Psychological aspects of genetic risk and genetic testing revisited”.
Jonine Figueroa is an Associate Professor/ Chancellor’s Fellow at University of Edinburgh, Edinburgh, United Kongdom
Principal interest(s): Cancer epidemiology, Global Health, Molecular Genetics, Real World Evidence
Area(s) of research: Cancer molecular epidemiology studies, tumor marker studies, etiologic heterogeneity
Principal interest(s): Cancer epidemiology, Global Health, Molecular Genetics, Real World Evidence
Area(s) of research: Cancer molecular epidemiology studies, tumor marker studies, etiologic heterogeneity
Jonine Figueroa will be giving a talk about “Improving precision medicine for breast cancer in Africa”.
Julien Gagneur is a Professor for Computational Molecular Medicine at Technical University of Munich, Munich, Germany
Prinipal interest(s): computational biology; regulatory genomics; rare diseases
Area(s) of research: computational biology; regulatory genomics; rare diseases
Prinipal interest(s): computational biology; regulatory genomics; rare diseases
Area(s) of research: computational biology; regulatory genomics; rare diseases
Julien Gagneur will be giving a talk about “AI in genomics: the present and the future”.
Andrea Ganna is aFIMM-EMBL-group leader at FIMM and an instructor at Harvard Medical School and Massachusetts General Hospital, Helsinki, Finland
Area(s) of research: Andrea´s research interests lie on the intersection between epidemiology, genetics and statistics. Andrea has authored and co-authored both methodological and applied papers focused on leveraging large scale epidemiological datasets to identify novel socio-demographic, metabolic and genetic markers of common complex diseases. He has extensive expertise in statistical genetics and has been working with large-scale exome and genome sequencing data. He is co-leading tow major international consortia: the COVID-19 host genetic initiative and the INTERVENE consortium. His research vision is to integrate genetic data and information from electronic health record/national health registries to enhance early detection of common diseases and public health interventions, for which he has been awarded a ERC starting grant.
Area(s) of research: Andrea´s research interests lie on the intersection between epidemiology, genetics and statistics. Andrea has authored and co-authored both methodological and applied papers focused on leveraging large scale epidemiological datasets to identify novel socio-demographic, metabolic and genetic markers of common complex diseases. He has extensive expertise in statistical genetics and has been working with large-scale exome and genome sequencing data. He is co-leading tow major international consortia: the COVID-19 host genetic initiative and the INTERVENE consortium. His research vision is to integrate genetic data and information from electronic health record/national health registries to enhance early detection of common diseases and public health interventions, for which he has been awarded a ERC starting grant.
Andrea Ganna will be giving a talk about “The COVID-19 host genetics initiative – an international, open science effort to identify genetic risk factors for COVID19 severity and susceptibility”.
Jose L. Garcia-Perez is a Group Leader at Human Genetics Unit, Medical Research Council at Institute of Genetics and Molecular Medicine (IGMM), Edinburgh, UK
Principal interest(s): His laboratory is interested in human active Transposable Elements, denominated LINE-1 or L1 for Long INterspersed element class 1, and his group has developed physiological models to understand TE accumulation in humans, their impact, and their epigenetic regulation. More recently, and aiming to understand the impact of LINE-1 mobilization in the brain, his group has developed new in vivo models of LINE retrotransposition, using zebrafish.
Area(s) of research :Genetics, Molecular Biology, Mobile DNA, Retrotransposons
Principal interest(s): His laboratory is interested in human active Transposable Elements, denominated LINE-1 or L1 for Long INterspersed element class 1, and his group has developed physiological models to understand TE accumulation in humans, their impact, and their epigenetic regulation. More recently, and aiming to understand the impact of LINE-1 mobilization in the brain, his group has developed new in vivo models of LINE retrotransposition, using zebrafish.
Area(s) of research :Genetics, Molecular Biology, Mobile DNA, Retrotransposons
Jose L. Garcia-Perez will be giving a talk about “Models to study the impact of active retrotransposons on the genome”.
Julian David Gillmore is a Professor of Medicine National Amyloidosis Centre, University College London, London, United Kongdom
Principal interest(s): Amyloidosis, Nephrology
Area(s) of research: Amyloidosis
Principal interest(s): Amyloidosis, Nephrology
Area(s) of research: Amyloidosis
Julian David Gillmore will be giving a talk about “Patisiranin clinical practice – Experience from the UK National Amyloidosis Centre”.
Paul K.J. Han is Senior Scientist at Behavioral Research Program, Division of Cancer Control and Population Sciences, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Scarborough, ME, United States
Principal interest(s): Communication and management of uncertainty in medicine
Area(s) of research: Medical uncertainty; risk communication; medical decision making
Principal interest(s): Communication and management of uncertainty in medicine
Area(s) of research: Medical uncertainty; risk communication; medical decision making
Paul K.J. Han will be giving a talk about “What are the different types of uncertainty that patients experience in the clinical genome sequencing?”.
Muzlifah Haniffa is Professor of Dermatology and Immunology at Newcastle University, Newcastle, United Kingdom
Principal interest(s): Exploiting disruptive cutting-edge techniques and scientific approaches to understand the developing human immune
system and define the mechanisms of tissue homeostasis, immunity and inflammation.
Area(s) of research: Muzlifah is a leading member of the Human Cell Atlas initiative and pioneered the application of single cell genomics to decode the developing human immune system, and the human skin in health and disease.
Principal interest(s): Exploiting disruptive cutting-edge techniques and scientific approaches to understand the developing human immune
system and define the mechanisms of tissue homeostasis, immunity and inflammation.
Area(s) of research: Muzlifah is a leading member of the Human Cell Atlas initiative and pioneered the application of single cell genomics to decode the developing human immune system, and the human skin in health and disease.
Muzlifah Haniffa will be giving a talk about “Studying the immune system cell by cell”.
Kasper D. Hansen is an Associate Professor at the Department of Biostatistics
Johns Hopkins University, Balitmore, United States
Principal interest(s): Bias and normalization in high-throughput genomics. Statistical nalysis of epigenomics and transcriptomics data. New assay technologies.
Area(s) of research: Statistical genomics / epigenomics
Johns Hopkins University, Balitmore, United States
Principal interest(s): Bias and normalization in high-throughput genomics. Statistical nalysis of epigenomics and transcriptomics data. New assay technologies.
Area(s) of research: Statistical genomics / epigenomics
Kasper D. Hansen will be giving a talk about “Computational analysis of DNA methylation in disease”.
Nicoline Hoogerbrugge is a Professor on Hereditary Cancer at the Department of Human Genetics at the Radboud university medical center, Nijmegen, The Netherlands.
Principal interest(s): Her work is focussed on finding new genetic risk factors for hereditary cancer, as well as identification of patients with hereditary cancer and improving cancer surveillance for those at high hereditary risk for cancer by research in pan European Networks
Area(s) of research: Cancer Genetics
Principal interest(s): Her work is focussed on finding new genetic risk factors for hereditary cancer, as well as identification of patients with hereditary cancer and improving cancer surveillance for those at high hereditary risk for cancer by research in pan European Networks
Area(s) of research: Cancer Genetics
Nicoline Hoogerbrugge will be giving a talk about “Boosting hereditary cancer research with the European Reference Network GENTURIS”.
Nada Jabado is a Professor of Pediatrics at McGill University, Pediatric Neuro-oncologist at the Montreal Children’s Hospital, and Senior Researcher at the Research Institute of the McGill University Health Centre , Montreal Canada
Principal interest(s): My research focuses on pediatric and young adult cancers, especially brain tumors and histone-mutant cancers and how they may stem from altered or stalled development. My group uncovered that pediatric high-grade astrocytomas (HGA) are molecularly and genetically distinct from adult tumors. We also identified a new molecular mechanism driving pediatric HGA, namely recurrent somatic driver mutations in the tail of histone 3 variants (H3.3 and H3.1). Our work created a paradigm shift in cancer with the identification of histone mutations in human disease, as the epigenome was a previously unsuspected hallmark of oncogenesis, thus linking development and what we now know are epigenetic-driven cancers.
Principal interest(s): My research focuses on pediatric and young adult cancers, especially brain tumors and histone-mutant cancers and how they may stem from altered or stalled development. My group uncovered that pediatric high-grade astrocytomas (HGA) are molecularly and genetically distinct from adult tumors. We also identified a new molecular mechanism driving pediatric HGA, namely recurrent somatic driver mutations in the tail of histone 3 variants (H3.3 and H3.1). Our work created a paradigm shift in cancer with the identification of histone mutations in human disease, as the epigenome was a previously unsuspected hallmark of oncogenesis, thus linking development and what we now know are epigenetic-driven cancers.
Nada Jabado will be giving a talk about “What, when, and whys of genome-wide association studies (GWAS)”.
Jennifer Jones is Researcher at Genetic Alliance UK, London, United Kingdom
Principal interest(s): Jen is particularly interested in research into the lived experiences of those with health conditions.
Area(s) of research: Healthcare services, rare conditions, primary care, creative methods and outputs, research impact.
Principal interest(s): Jen is particularly interested in research into the lived experiences of those with health conditions.
Area(s) of research: Healthcare services, rare conditions, primary care, creative methods and outputs, research impact.
Jennifer Jones will be giving a talk about “The patient perspective”.
Marika Kaakinen is a Lecturer in Statistical Multi-Omics at Department of Clinical and Experimental Medicine, School of Biosciences, University of Surrey, Guildford, United Kingdom.
Principal interest(s): Developing and applying statistical methodology for omics data to better understand complex human traits and thus, to improve prevention and treatment of diseases.
Area(s) of research: Genetics of metabolic and psychiatric traits, and co-morbidities between diseases.
Principal interest(s): Developing and applying statistical methodology for omics data to better understand complex human traits and thus, to improve prevention and treatment of diseases.
Area(s) of research: Genetics of metabolic and psychiatric traits, and co-morbidities between diseases.
Marika Kaakinen will be giving a talk about “What, when, and whys of genome-wide association studies (GWAS)”.
Helena Kilpinen is an Assistant Professor and Principal Investigator at Helsinki Institute of Life Science (HiLIFE), Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki , Finland
Area(s) of research: Cellular genetics, functional genomics, single-cell genomics, stem cell models of disease, developmental disorders
Area(s) of research: Cellular genetics, functional genomics, single-cell genomics, stem cell models of disease, developmental disorders
Helena Kilpinen will be giving a talk about “Variants and cellular traits”.
Claudia Kleinman is an Assistant Professor at Department of Human Genetics, Faculty of Medicine, McGill University, Montreal, Canada
Principal interest(s): Genomics, Computational Biology, Epigenomics, Cancer, Brain development, Single-cell biology
Area(s) of research: Our research exploits genome-wide technologies and data science to understand pathological mechanisms of gene expression, with a particular focus on cancer and brain development.
Principal interest(s): Genomics, Computational Biology, Epigenomics, Cancer, Brain development, Single-cell biology
Area(s) of research: Our research exploits genome-wide technologies and data science to understand pathological mechanisms of gene expression, with a particular focus on cancer and brain development.
Claudia Kleinman will be giving a talk about “Transcriptional programs of brain tumors”.
Dwight D Koeberl is a Professor of Pediatrics at Duke University School of Medicine, Durham, NC, United States
Principal interest(s): Glycogen storage disease research
Area(s) of research: Gene therapy, orphan drug development
Principal interest(s): Glycogen storage disease research
Area(s) of research: Gene therapy, orphan drug development
Dwight D Koeberl will be giving a talk about “AAV gene therapy for glycogen storage diseases”.
Emma Kowal is Professor of Anthropology in the Alfred Deakin Institute at Deakin University, founder and Convenor of the Deakin Science and Society Network, former Deputy Director of the National Centre for Indigenous Genomics (NCIG) at the Australian National University, and Fellow of the Academy of the Social Sciences in Australia. She is a cultural and medical anthropologist who previously worked as a medical doctor and public health researcher in Indigenous health before completing her PhD in 2007.
Area(s) of research: Her research interests include the social, political and ethical implications of genomic technologies for Indigenous people. She is a Chief Investigator of Australian Genomics, an Expert Advisory Committee member for the Genomics Health Futures Mission, and organises the Australian chapter of the Summer Internship for Indigenous Peoples in Genomics (SING).
Emma Kowal will be giving a talk about “Ethics and inclusivity when working with indigenous populations”.
Ewart Kuijk is Post-doc at the Center for Molecular Medicine and Oncode Institute, University Medical Center Utrecht, Utrecht, Netherlands
Principal interest(s): Mutational processes in early development and in fetal and adult stem cells and how that can lead to disease.
Area(s) of research: Studying the causes and consequences of mutational processes by using single cell whole genome sequencing technologies on early embryos, tissue specific organoids and primary and metastasized cancers.
Principal interest(s): Mutational processes in early development and in fetal and adult stem cells and how that can lead to disease.
Area(s) of research: Studying the causes and consequences of mutational processes by using single cell whole genome sequencing technologies on early embryos, tissue specific organoids and primary and metastasized cancers.
Ewart Kuijk will be giving a talk about “Genomic instability in early embryonic development”.
Jatinder Lamba is Professor at Department of Pharmacotherapy and Translational Research, College of Pharmacy, University of Florida, Gainesville, FLORIDA, United States
Principal interest(s): My research program focuses on advancing our ability to design better treatment strategies to improve outcomes for AML by overcoming resistance, particularly in pediatric patients by leveraging a wide-range of multi-omics approaches. This research spans from preclinical basic research comprising the discovery phase utilizing cell line model systems to translational/clinical phase in patient populations from multi-institute clinical trials. Our results are directed towards designing personalized and more effective treatment regimens for AML patients and identification of novel therapeutic targets that could transform the current therapeutic regimens in AML.
Area(s) of research: Pharmacogenomics, metabolomics, Proteomics, epigenetics, Acute Myeloid leukemia, leukemic stem cells
Principal interest(s): My research program focuses on advancing our ability to design better treatment strategies to improve outcomes for AML by overcoming resistance, particularly in pediatric patients by leveraging a wide-range of multi-omics approaches. This research spans from preclinical basic research comprising the discovery phase utilizing cell line model systems to translational/clinical phase in patient populations from multi-institute clinical trials. Our results are directed towards designing personalized and more effective treatment regimens for AML patients and identification of novel therapeutic targets that could transform the current therapeutic regimens in AML.
Area(s) of research: Pharmacogenomics, metabolomics, Proteomics, epigenetics, Acute Myeloid leukemia, leukemic stem cells
Jatinder Lamba will be giving a talk about “Pharmacogenomics: saving lives with personalized treatment”.
Daniel John Lawson is a Senior Lecturer in Data Science at University of Bristol, Bristol, United Kingdom
Principal interest(s): Population Genetics
Area(s) of research: Complex Traits, GWAS, Epidemiology, Methodology
Principal interest(s): Population Genetics
Area(s) of research: Complex Traits, GWAS, Epidemiology, Methodology
Daniel John Lawson will be giving a talk about “Genetic population structure and its consequences in biobank scale data”.
Catherine Lejeune is affiliated to the Inserm UMR 1231 Research Center in the EPICAD team (Epidemiological and Clinical Research in Digestive Oncology) and the Clinical Investigation Center (Inserm 1432) of the Dijon University Hospital, Dijon, France
Principal interest(s): (i) assessing the efficiency of health strategies, (ii) understanding the decision-making processes of patients, caregivers and clinicians throughout the care pathway (from screening to treatment) using quantitative, qualitative and mixed studies, and identifying/analyzing the factors that influence their choices.
Area(s) of research: oncology, oncogenetics and rare diseases.
Principal interest(s): (i) assessing the efficiency of health strategies, (ii) understanding the decision-making processes of patients, caregivers and clinicians throughout the care pathway (from screening to treatment) using quantitative, qualitative and mixed studies, and identifying/analyzing the factors that influence their choices.
Area(s) of research: oncology, oncogenetics and rare diseases.
Catherine Lejeune will be giving a talk about “Social and human sciences informing the implementation of genomics”.
Y. M. Dennis Lo is a Li Ka Shing Professor of Medicine and Professor of Chemical Pathology, Li Ka Shing Institute of Health Sciences, The Chinese University of Hong Kong, Hong Kong SAR, China
Principal interest(s): My principal research interests are the biology and diagnostic applications of cell-free nucleic acids in plasma.
Area(s) of research: Non-invasive prenatal testing, Cancer liquid biopsy
Principal interest(s): My principal research interests are the biology and diagnostic applications of cell-free nucleic acids in plasma.
Area(s) of research: Non-invasive prenatal testing, Cancer liquid biopsy
Y. M. Dennis Lo will be giving a talk about “Mendel Lecture”.
Joakim Lundeberg is a Professor at Science for Life Laboratory KTH, Dept. of Gene Technology, Solna, Sweden
Principal interest(s): Spatially resolved omics
Area(s) of research: Technology development
Principal interest(s): Spatially resolved omics
Area(s) of research: Technology development
Joakim Lundeberg will be giving a talk about “Spatially resolved gene expression”.
Daniel MacArthur is Director of Centre for Population Genomics at Garvan Institute of Medical Research, Murdoch Childrens Research Institute, Darlinghurst, Australia
Principal interest(s): Genomics, Data
Area(s) of research: Population Genomics, rare disease
Principal interest(s): Genomics, Data
Area(s) of research: Population Genomics, rare disease
Daniel MacArthur will be giving a talk about “Comparative genomics across species and populations”.
Reedik Mägi is Professor of bioinformatics at University of Tartu, Tartu, Estonia
Principal interest(s): My work has been mainly related to genetics of metabolic and reproductive traits. I am also interested in method development for association analysis, meta-analysis and polygenic risk scores.
Area(s) of research: bioinformatics, genetic epidemiology, genomics
Principal interest(s): My work has been mainly related to genetics of metabolic and reproductive traits. I am also interested in method development for association analysis, meta-analysis and polygenic risk scores.
Area(s) of research: bioinformatics, genetic epidemiology, genomics
Reedik Mägi will be giving a talk about “Population structure, meta-analysis and trans-ethnic meta-analysis in GWAS”.
Karen Miga is an Assistant Research Scientist at University of California, Santa Cruz Genomics Institute, Santa Cruz (CA), United States
Principal interest(s): Chromosome biology
Area(s) of research: Functional impact of satellite DNAs; long-read technologies and computational tools to improve high-resolution maps of human peri/centromeric regions; assess clinical impact of satellite sequence variation; novel gene regulation mechanisms involving constitutive heterochromatin
Principal interest(s): Chromosome biology
Area(s) of research: Functional impact of satellite DNAs; long-read technologies and computational tools to improve high-resolution maps of human peri/centromeric regions; assess clinical impact of satellite sequence variation; novel gene regulation mechanisms involving constitutive heterochromatin
Karen Miga will be giving a talk about “Unraveling the sequence of the centromere”.
Duncan T Odom is a Dr. at University of Heidelberg, German Cancer Research Center, Heidelberg, Germany and at University of Cambridge, Cancer Research UK – Cambridge Institute, UK.
Principal interest(s): Genome evolution
Area(s) of research: Transcription, evolution, mutagenesis
Principal interest(s): Genome evolution
Area(s) of research: Transcription, evolution, mutagenesis
Duncan T Odom will be giving a talk about “Rapid evolution of genome regulation in mammals”.
Uwe Ohler is a Professor at Berlin Institute for Medical Systems Biology, Max Delbruck Center, Berlin, Germany
Area(s) of research: gene regulation, genomics, bioinformatics
Area(s) of research: gene regulation, genomics, bioinformatics
Uwe Ohler will be giving a talk about “Combining regulatory genomics deep learning with rare-variant association tests”.
Lotte B. Pedersen is a Professor at Department of Biology, University of Copenhagen, Copenhagen, Denmark
Principal interest(s): My work focuses on the molecular mechanisms by which primary cilia are assembled and function to regulate specific cellular signaling pathways. Furthermore, my lab studies the molecular etiology of diseases caused by mutations in ciliary or centrosomal genes, including cone-rod dystrophy and hearing loss.
Area(s) of research: cell biology, cilia, centrosomes, cytoskeleton
Principal interest(s): My work focuses on the molecular mechanisms by which primary cilia are assembled and function to regulate specific cellular signaling pathways. Furthermore, my lab studies the molecular etiology of diseases caused by mutations in ciliary or centrosomal genes, including cone-rod dystrophy and hearing loss.
Area(s) of research: cell biology, cilia, centrosomes, cytoskeleton
Lotte B. Pedersen will be giving a talk about “Primary cilia in health and disease”.
Anna Poetsch is Research Group Leader at TU Dresden, Dresden, Germany
Principal interest(s): The Genomics of DNA damage, repair, and mutagenesis
Area(s) of research: Genomics, DNA damage, DNA repair, Mutagenesis, Computational Biology, Epigenetics, Machine Learning, Personalised Oncology
Principal interest(s): The Genomics of DNA damage, repair, and mutagenesis
Area(s) of research: Genomics, DNA damage, DNA repair, Mutagenesis, Computational Biology, Epigenetics, Machine Learning, Personalised Oncology
Anna Poetsch will be giving a talk about “DNA damage maps”.
Barbara Prainsack is a Professor at University of Vienna, Austria
Principal interest(s): Health policy; practices, institutions and politics of solidarity; political, social and ethical aspects of Personalised Medicine; data-rich practices in science and medicine; regulation of DNA technologies in medicine and forensics; science & technology policy
Area(s) of research: see above
Principal interest(s): Health policy; practices, institutions and politics of solidarity; political, social and ethical aspects of Personalised Medicine; data-rich practices in science and medicine; regulation of DNA technologies in medicine and forensics; science & technology policy
Area(s) of research: see above
Barbara Prainsack will be giving a talk about “Global genetics towards a socially just practice: a view from Europe”.
Heidi Rehm is a Professor of Pathology at Massachusetts General Hospital and Broad Institute of MIT and Harvard, Boston, United States
Principal interest(s): clinical genomics
Area(s) of research: clinical genomics
Principal interest(s): clinical genomics
Area(s) of research: clinical genomics
Heidi Rehm will be giving a talk about “Using genomic resources to interpret the clinical significance of rare variants”.
Rebecca Richmond is a Research Fellow in Molecular Epidemiology at MRC Integrative Epidemiology Unit, University of Bristol, Bristol, United Kingdom
Principal interest(s): Rebecca Richmond is a Vice Chancellor’s Research Fellow in the MRC Integrative Epidemiology Unit at the University of Bristol. Her research aims to: 1) highlight the relative importance and inter-relationships of health behaviours for prioritization in disease prevention strategies and 2) identify molecular pathways which could serve as therapeutic targets for intervention. She has specific interests in cancer, women’s health and lifecourse epidemiology.
Area(s) of research: Her major areas of focus are on the large-scale integration of molecular data in population health science as well as the development and application of causal inference methods, including Mendelian randomization.
Principal interest(s): Rebecca Richmond is a Vice Chancellor’s Research Fellow in the MRC Integrative Epidemiology Unit at the University of Bristol. Her research aims to: 1) highlight the relative importance and inter-relationships of health behaviours for prioritization in disease prevention strategies and 2) identify molecular pathways which could serve as therapeutic targets for intervention. She has specific interests in cancer, women’s health and lifecourse epidemiology.
Area(s) of research: Her major areas of focus are on the large-scale integration of molecular data in population health science as well as the development and application of causal inference methods, including Mendelian randomization.
Rebecca Richmond will be giving a talk about “The mediatory role of DNA methylation in causal pathways”.
Bekim Sadikovic is a Scientific and Clinical Director, Program Head and Associate Professor at Verspeeten Clinical Genome Centre, London Health Sciences, Western University, London, Canada
Principal interest(s): Molecular Diagnostics, Epigenomics, Clinical Biomarkers
Area(s) of research: Clinical Genomics and Epigenomics, AI and Molecular Diagnostics in Genetic Disorders
Principal interest(s): Molecular Diagnostics, Epigenomics, Clinical Biomarkers
Area(s) of research: Clinical Genomics and Epigenomics, AI and Molecular Diagnostics in Genetic Disorders
Bekim Sadikovic will be giving a talk about “DNA methylation episignatures in Mendelian neurodevelopmental disorders”.
Andrew Sharp will be giving a talk about “Epivariations in the human genome”.
Jesse J. Swen ia a Associate Professor of Pharmacogenetics at Leiden University Medical Center, Leiden, Netherlands
Principal interest(s): The long-term central goal of my career is to improve the outcomes of drug treatment by gaining a better understanding of the genetic mechanisms that result in inter-individual variability in drug response.
Area(s) of research: pharmacogenetics; pharmacogenomics; phenoconversion
Principal interest(s): The long-term central goal of my career is to improve the outcomes of drug treatment by gaining a better understanding of the genetic mechanisms that result in inter-individual variability in drug response.
Area(s) of research: pharmacogenetics; pharmacogenomics; phenoconversion
Jesse J. Swen will be giving a talk about “Diagnosis and treatment of imprinting disorders”.
Karen Temple ia a Professor of Medical Genetics at University of Southampton, and University Hospital Southampton, UK
Principal interest(s): Major interests are in genomics, epigenomics and clinical characterization of childhood developmental disorders
Area(s) of research: Recognized for her identification of new genetic imprinting syndromes including Temple syndrome, a condition with marked short stature and late onset obesity. Together with her colleagues in Southampton, she has pioneered research into the epigenetic causes of transient neonatal diabetes (TND) and other imprinting disorders identifying the phenomenon of multi locus imprinting disturbance. She co-runs the European Reference Network clinic in Southampton for patients with imprinting disorders.
Principal interest(s): Major interests are in genomics, epigenomics and clinical characterization of childhood developmental disorders
Area(s) of research: Recognized for her identification of new genetic imprinting syndromes including Temple syndrome, a condition with marked short stature and late onset obesity. Together with her colleagues in Southampton, she has pioneered research into the epigenetic causes of transient neonatal diabetes (TND) and other imprinting disorders identifying the phenomenon of multi locus imprinting disturbance. She co-runs the European Reference Network clinic in Southampton for patients with imprinting disorders.
Karen Temple will be giving a talk about “Diagnosis and treatment of imprinting disorders”.
Clare Turnbull is a Professor Professor in Translational Cancer Genetics, Sutton, United Kindgom
Principal interest(s): Clare is Professor of Translational Cancer Genetics in the Division of Genetics and Epidemiology at the Institute of Cancer Research. Her research spans statistical, population and public-health-related analyses of cancer epidemiology, genetic cancer susceptibility and implementation of expanded genomic testing. Undertaking germline, somatic and functional genomic studies in various tumour types, Clare has a particular interest in testicular cancer. Her team has led the international field in identification of genetic factors influencing testicular germ cell tumorogenesis.
Area(s) of research: She is currently rolling out a new £4.3 million CRUK-funded Catalyst Award: ‘CanGene-CanVar: Data Resources, Clinical and Educational Tools to leverage Cancer Susceptibility Genetics for Early Detection and Prevention of Cancer’ program, involving analysis of national genomic datasets against PHE National Cancer Registration datasets. She is also in process of initiating BRCA-DIRECT: a CRUK-funded program to develop and pilot a digital platform to deliver BRCA testing, enabling extension of testing to all women with breast cancer. Over the last year, she has also worked closely with PHE, NHS Improvements and CRUK regarding cancer survival and routes to diagnosis in the context of COVID-19-related disruption.
Having trained as a Clinical Geneticist, her clinical work at The Royal Marsden NHS Foundation Trust focuses on management of patients and families with genetic susceptibility to cancer.
Principal interest(s): Clare is Professor of Translational Cancer Genetics in the Division of Genetics and Epidemiology at the Institute of Cancer Research. Her research spans statistical, population and public-health-related analyses of cancer epidemiology, genetic cancer susceptibility and implementation of expanded genomic testing. Undertaking germline, somatic and functional genomic studies in various tumour types, Clare has a particular interest in testicular cancer. Her team has led the international field in identification of genetic factors influencing testicular germ cell tumorogenesis.
Area(s) of research: She is currently rolling out a new £4.3 million CRUK-funded Catalyst Award: ‘CanGene-CanVar: Data Resources, Clinical and Educational Tools to leverage Cancer Susceptibility Genetics for Early Detection and Prevention of Cancer’ program, involving analysis of national genomic datasets against PHE National Cancer Registration datasets. She is also in process of initiating BRCA-DIRECT: a CRUK-funded program to develop and pilot a digital platform to deliver BRCA testing, enabling extension of testing to all women with breast cancer. Over the last year, she has also worked closely with PHE, NHS Improvements and CRUK regarding cancer survival and routes to diagnosis in the context of COVID-19-related disruption.
Having trained as a Clinical Geneticist, her clinical work at The Royal Marsden NHS Foundation Trust focuses on management of patients and families with genetic susceptibility to cancer.
Clare Turnbull will be giving a talk about “Translational collaborations in hereditary cancer”.
Nicole Warrington is a Research Fellow at University of Queensland Diamantina Institute, Queensland, Australia
Principal interest(s): HI have a particular interest in developing statistical genetics methods to understanding the genetic determinants of early life growth and its links with cardio-metabolic diseases in later life.
Area(s) of research: Genome-wide association studies, Mendelian randomization
Principal interest(s): HI have a particular interest in developing statistical genetics methods to understanding the genetic determinants of early life growth and its links with cardio-metabolic diseases in later life.
Area(s) of research: Genome-wide association studies, Mendelian randomization
Nicole Warrington will be giving a talk about “Estimating direct and indirect genetic effects on birth weight”.
Anthony S. Wierzbicki is a Consultant in Metabolic Medicine/Chemical Pathology at Guy’s & St Thomas’ Hospitals, London, United Kingdom
Principal interest(s): The role of lipids in atherosclerosis and in peroxisomal diseases.
Area(s) of research: Familial Hypercholesterolaemia; Familial Chlyomicronaemia syndrome; Lipids & atherosclerosis; Monogenic adult peroxisomal disorders; Guidelines & health economics
Principal interest(s): The role of lipids in atherosclerosis and in peroxisomal diseases.
Area(s) of research: Familial Hypercholesterolaemia; Familial Chlyomicronaemia syndrome; Lipids & atherosclerosis; Monogenic adult peroxisomal disorders; Guidelines & health economics
Anthony S. Wierzbicki will be giving a talk about “Coping with uncertainty of genomic testing in a non-genetic setting”.