ASHBi Symposium 2020 “Human Development, Genetics and Evolution”

Dr. Aida Andrés interrogates genomes, contemporary and archaic, about their evolutionary history. In 2004 she obtained her PhD from the Universitat Pompeu Fabra in Barcelona (Spain) and moved to the USA to work in top research institutions such as Cornell University (2004-2006) and the National Institutes of Health (2006-2010) as a postdoc. Since 2010 she leads a research group on Genetic diversity and selection at the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany.

Dr. Andrés uses population genetics to understand how natural selection has shaped the diversity that exists among individuals, populations and species. She has worked for years on balancing selection, developing new methods to identify its signatures in the genome and identifying its genomic targets in humans and other primates. Her group also works on local adaptation and recently showed, using ancient DNA from early modern humans, that local adaptation has significantly impacted recent human evolution. Using modern complete genomes and sophisticated inference methods her group has identified loci that evolved under local positive selection and are responsible for phenotypic differences with medical consequences among human groups. Her group also studies broader questions in primate evolutionary genomics, such as the influence of demography, behavior and adaption in the evolution of primate species, and has participated in numerous consortia that analyzed ape and ancient human genomes.

James Briscoe is a senior group leader at The Francis Crick Institute. He obtained a B.Sc. in Microbiology and Virology from the University of Warwick, UK. Following a PhD in Ian Kerr’s laboratory at the Imperial Cancer Research Fund, London (now part of The Francis Crick Institute), he undertook postdoctoral training at Columbia University, New York, USA, with Thomas Jessell first as a Human Frontiers Science Program Fellow then as a Howard Hughes Medical Institute Fellow.

In 2000 he moved to the MRC-National Institute for Medical Research (now part of The Francis Crick Institute) to establish his own research group and in 2001 he was elected an EMBO Young Investigator. He was awarded the EMBO Gold Medal in 2008 and elected to EMBO in 2009. In 2012 he was appointed Head of Division in Developmental Biology. In 2018 he became Editor in Chief of Development, a journal published by the Company of Biologists, a not-for-profit scientific publisher. He was elected a Fellow of the Academy of Medical Sciences and a Fellow of the Royal Society in 2019.

His research interests include the molecular and cellular mechanisms of graded signalling by morphogens and the specification of cell fate in the vertebrate neural tube. To address these questions his lab uses a range of experimental and computational techniques and model systems that include mouse and chick embryos and embryonic stem cells.

Gray performed his PhD work at UNC Chapel Hill, and postdoctoral research at Stanford University and the Max Planck Institute. His group uses stem cell-derived organoids and single-cell genomics to study how the differentiation of diverse cell fates is orchestrated in complex 3D microenvironments. His lab also explores uniquely human development through comparisons with our closest living relatives, chimpanzees and the other great apes.

After an undergraduate degree in Engineering (Agronomy) at the Université Libre de Bruxelles (Belgium), Anne Goriely obtained a PhD studying the development of the nervous system of the Drosophila embryo. She spent 4 years in New York at Cornell Medical School and at Rockefeller University, before coming to Oxford to work on the nervous system development of the chick embryo. In 2000, she joined the team of Prof Andrew Wilkie at the MRC Weatherall Institute of Molecular Medicine (University of Oxford), where she is still based.

She is currently Associate Professor of Human Genetics and co-heads the Clinical Genetics Laboratory. Using a human genetics approach, her main interests lie in elucidating the mechanisms by which new mutations are introduced in our genomes and the implications of such processes in health, disease and for human evolution.

Anne Grapin-Botton is a director of the Max Planck Institute of Molecular Cell Biology and Genetics in Dresden, Germany, and a professor at the Novo Nordisk Foundation Center for Stem Cell Biology of the University of Copenhagen, Denmark. She previously worked as an Assistant professor at the ISREC-Ecole Polytechnique Fédérale de Lausanne in Switzerland. The Grapin-Botton lab investigates how the tri-dimensional structure of the pancreas is established during fetal life and how this spatial information integrates with signaling and transcription to control endocrine cell differentiation. To do so, they use mouse genetics, imaging and they developed 3D in vitro culture systems for pancreas progenitors (organoids). These studies are also intended to gain insight into human syndromes impairing pancreas development and guide the generation of replacement beta cells for Diabetes therapy.

Katsuhiko Hayashi, Ph.D. (born Dec 2, 1971)
Professor, Department of Stem Cell Biology and Medicine, Graduate School of Medical Sciences, Kyushu University.

The career:
1990-1996 BS, MS Graduate School of Agriculture, in Meiji University.
1996-2002 Associate professor in Research Institute for Biological Sciences, Tokyo University of Science.
2002-2005 Staff researcher in the Research Institute in Osaka Women’s and Children’s Hospital.
2004 PhD in Tokyo University of Science.
2005-2009, Post-doctoral fellow in the Gurdon institute, University of Cambridge.
2009-2014, Associate professor in Graduate School of Medicine, Kyoto University.
2014- Present, Professor in Department of Stem Cell Biology and Medicine, Graduate School of Medical Sciences, Kyushu University.

Graduated from Kyoto University in 2000, Takashi Hiiragi joined the laboratory of Davor Solter in Max-Planck Institute of Immunobiology, Freiburg. Since 2002, he stayed there as a group leader, until in 2007 he moved to Max-Planck Institute for Molecular Biomedicine in Münster, as an independent group leader. As a recipient of the European Research Council (ERC) Starting Grant, Takashi then moved to EMBL Heidelberg as a group leader. Takashi now holds ERC Advanced Grant.

Ryoichiro Kageyama received his M.D. in 1982 from Kyoto University and his Ph.D. in 1986 from the same institution for his work on the structural characterization and transcriptional control of the renin-angiotensin-kinin system. After spending 3.5 years as a postdoctoral fellow at the National Cancer Institute in the United States, he returned to Japan and was appointed Assistant Professor in 1989 and Associate Professor in 1991 in the Faculty of Medicine of Kyoto University. There, he began the research of bHLH genes, such as Hes1 and Math1, and analyzed their roles in neural development. He then moved to Kyoto University’s Institute for Virus Research (now, Institute for Frontier Life and Medical Sciences) to assume a full professorship in 1997, continuing his study on the roles of bHLH genes in neural development. In April 2006, he was appointed Director of the same institute (until March 2010). From February 2013 (until March 2019), he was appointed Deputy Director of Institute for Integrated Cell-Material Sciences, Kyoto University.

His current research involves studies on the dynamics of gene expression during cellular proliferation and differentiation. His group has developed a time-lapse imaging system for Hes expression and a light-controlled gene expression system. He is working to characterize the dynamic expression of Hes and downstream genes and their significance in neural development. They are also interested in bHLH genes in adult neurogenesis and characterizing their roles in brain functions.

Janet Kelso is head of the Bioinformatics research group at the Max-Planck Institute for Evolutionary Anthropology in Leipzig, Germany. Her research focusses on the analysis of ancient genomes, particularly the genomes of archaic humans. Her group has a special interest in the development of novel computational approaches for the analysis of ancient DNA and in using these approaches to gain insights into genome evolution. Janet received her PhD in bioinformatics from the South African National Bioinformatics Institute at the University of the Western Cape under the supervision of Professor Winston Hide. She is author of more than 80 peer-reviewed scientific publications. Together with Alfonso Valencia, Janet is the co-Editor-in-chief of the journal Bioinformatics, and also an editor of the journal Database. Janet is an active member of the Board of the International Society of Computational Biology and has held positions as both Vice-president and Secretary. She was named a Fellow of the Society in 2015.

Diana Laird, PhD is an Associate Professor in the Department of Obstetrics, Gynecology and Reproductive Sciences at University of California, San Francisco. She received her undergraduate degree in physics at Harvard University and discovered her love of biology working as a field assistant to a fish physiologist in Antarctica. She earned a PhD at Stanford University, where she discovered competition by stem cells of egg and sperm in a vertebrate ancestor. During her postdoctoral studies at Sloan Kettering Institute, she conducted the first forward genetic screen in mice for defects in embryonic precursors of egg and sperm called primordial germ cells. Dr. Laird’s current research focuses on development and aging of germ cells in mice and humans, their mechanisms for maintaining genomic integrity, and the impact on fitness of the mature gamete. Her group developed quantitative 3D imaging approaches to reveal new biology of the ovary as well as the implanting embryo in the uterus. These endeavors are aimed toward understanding the causes of infertility and birth defects, and unlocking the potential of stem cells to generate gametes. She is the recipient of the NIH Director’s New Innovator Award and a W.M. Keck Foundation Award.

Prisca Liberali has been trained as physical organic chemist with a focus on physical organic chemical reactions. During her postdoc, she developed new experimental single-cell methods and statistical approaches to analyse and model cell-to-cell variability and its involvement in the emergence of complex cellular populations. Currently, she is an assistant professor at the University of Basel and at the Friedrich Miescher Institute for Biomedical Research (FMI) with a laboratory focused on dynamics of self-organization and on how cellular signalling dictates its spatial-temporal regulation. To address this in a fully tractable experimental model system that mimics conditions of tissue formation in organisms, her laboratory uses stem cells derived organoids and gastruloids. As these emergent systems have multiple layers of biological organization at different scales, her laboratory is developing novel image-based experimental, and statistical methods to increase our integrated understanding of single-cell biology. Prisca Liberali has received several research awards, including an ERC Starting Grant (2018-2022) and a SNSF Professorship Grant (2015-2021).

Ryuichi Nishinakamura graduated from the University of Tokyo, and spent several years as a clinical nephrologist. After obtaining his Ph.D. in 1996, he started working on kidney development. He moved to Kumamoto University in 2004 as a professor, and is now a Director, as well as a Professor in the Department of Kidney Development, at the Institute of Molecular Embryology and Genetics, Kumamoto University, Japan. His ultimate goal is to elucidate molecular mechanisms in kidney development and to rebuild the kidney from pluripotent stem cells.

Claire Rougeulle is a group leader and the Deputy Director of the Epigenetics and Cell Fate center at Université de Paris, France. She is also Professor at Ecole Polytechnique, and Coordinator of the Labex (laboratory of excellence) research consortium “Who Am I?”, which addresses, in a multidisciplinary manner, the question of identity. She obtained her PhD in 1996 from Pierre et Marie Curie University, France, and joined the CNRS in 1999 after her post-doctoral studies at the Harvard Medical School of Boston. Claire Rougeulle has been awarded the CNRS Bronze and Silver Medal in 2007 and 2019, respectively. She is EMBO member since 2016. Her main research interest concerns the contribution of the noncoding genome to epigenetic regulations and their plasticity in evolution, which she tackles in the context of X chromosome inactivation in mammals, a paradigm for epigenetic regulations. Her group recently focused on species-specific regulatory processes in human X-inactivation. She also contributed to the discovery of long noncoding RNA in the context of genomic imprinting.

Mitinori Saitou received his M.D. and Ph.D. (under Prof. Shoichiro Tsukita) from the Kyoto University, and performed his postdoctoral work at the Wellcome Trust/Cancer Research UK Gurdon Institute (with Prof. Azim Surani). He was appointed team leader at the RIKEN Center for Developmental Biology in 2003. He was appointed Professor at the Kyoto University Graduate School of Medicine in 2009, and Director of the JST ERATO program in 2011. He was appointed Professor at the Kyoto University Institute for Advanced Study (KUIAS) and Director of Institute for the Advanced Study of Human Biology (ASHBi) in 2018. His work focuses on the mechanism and reconstitution in vitro of germ cell development in mice, non-human primates including great apes, and humans.

Dr. Toshiro Sato is Professor of Department of Organoid Medicine in Keio University School of Medicine, Tokyo. He obtained his MD and PhD from Keio University School of Medicine and completed his residency program in Department of Gastroenterology, Keio University Hospital. In 2007, he joined the Hans Clevers lab, Hubrecht Institute, Utrecht to investigate intestinal stem cells, where he developed the organoid culture system for adult intestinal stem cells. Dr. Sato established his own laboratory in the Keio University since 2011 and focus on disease modeling of human gastrointestinal diseases.

Davor Solter, M.D. (1965), Ph.D. (1971) both from the University of Zagreb, Croatia. Assistant and Associate Professor in the Departments of Anatomy and Biology, University of Zagreb Medical School 1966-1973. In 1973 moved to the Wistar Institute, Philadelphia and became Member and Professor in 1981 as well as Wistar Professor at the University of Pennsylvania. In 1991 he was appointed Member of the Max-Planck Society and Director of the Max-Planck Institute of Immunobiology in Freiburg. From 2008-2014 Research Director, Institute of Medical Biology, A*STAR, Singapore and Professor, Duke-NUS Graduate Medical School. Currently Visiting International Professor Siriraj Center for Excellence in Stem Cell Research, Mahidol University Medical School, Bangkok. He was and is a member of numerous editorial and advisory boards and of the American Academy of Arts and Sciences, EMBO and Academia Europea. In 1998 received March of Dimes Prize in Developmental Biology for pioneering the concept of imprinting, in 2007 Rosenstiel Award (shared with Mary Lyon and Azim Surani) for discovery of imprinting and in 2018 Canada Gairdner International Award for discovery of imprinting.

Davor Solter contributed significantly to many areas of mammalian developmental biology, namely: differentiation of germ layers; the role of cell surface molecules in regulating early development; biology and genetics of teratocarcinoma; biology of embryonic stem cells; imprinting and cloning. His current research interest focuses on genetic and molecular control of genome reprogramming and of activation of the embryonic genome.

Azim Surani was born in Kenya, and obtained his PhD in 1975 at Cambridge University under Professor Sir Robert Edwards FRS (Nobel Laureate, 2010). Surani discovered the phenomenon of Genomic Imprinting in 1984, which causes parent-of-origin specific gene expression and its consequences for development and disease. He identified several imprinted genes and their functions, and contributed to the mechanism of imprinting involving the erasure and re-establishment of DNA methylation. He was appointed the Marshall-Walton Professor at the Wellcome Trust Cancer Research UK Gurdon Institute in 1992, where he is currently Director of Germline and Epigenetics Research. His recent work has focused on the genetic basis for mammalian germ cell specification, and the epigenetic program towards generating the totipotent state. He is a Fellow of the Royal Society, of the Academy of Medical Sciences, and a member of EMBO. He has multiple awards, including a Royal Medal, the Rosensteil Award, the ISSCR McEwen Award for Innovation, and the Canada Gairdner International Award for the discovery of genomic imprinting.

James Turner is distinguished for his outstanding contributions to our understanding of mammalian sex chromosome biology. His research interests were established during his MB PhD / postdoc at UCL and the MRC National Institute for Medical Research. Studying how chromosome abnormalities disrupt egg and sperm formation, Turner discovered a new epigenetic mechanism, called meiotic silencing, which he later demonstrated was responsible for infertility in chromosomally abnormal mice. He found that meiotic silencing involved the DNA repair factors BRCA1 and ATR, the first demonstration that these proteins can function as epigenetic regulators.

Following his medical training, in 2012 Turner established a research group at the MRC NIMR. He focused his efforts on the mammalian X and Y chromosome, having realized before many others that the sex chromosomes were being overlooked in studies of disease and development. He identified mechanisms causing infertility in the most common sex chromosome aneuploidies XXY (Klinefelter), XYY (Jacob) and XO (Turner) syndrome, and established interventions to restore germ cell production in mouse models all three conditions. By repurposing these approaches, he devised a method to correct trisomy in Down syndrome patient cells. He challenged the view that the X chromosome is a “female chromosome”, by demonstrating that it houses hundreds of spermatogenesis genes. This work identified new candidates for idiopathic male infertility and contraceptive targeting.

Turner's work has been multi-disciplinary from the outset, combining computational ‘omics’ approaches, genome engineering, stem cell reprogramming and in vitro gametogenesis to reveal disease pathways and therapeutic interventions. To complement his human and mouse work, he has developed the marsupial Monodelphis domestica as a laboratory model, providing unprecedented insight into sex chromosome evolution. He dissected the evolution of mammalian X-chromosome inactivation, notably discovering Rsx, the marsupial equivalent to the eutherian master regulator of X-inactivation, Xist. This discovery presented a much-needed comparative system for understanding RNA-mediated chromatin remodeling. Turner is an EMBO member, a recipient of the Wain Medal and holds an ERC Consolidator award.

Christopher A. Walsh is Bullard Professor of Pediatrics and Neurology at Harvard Medical School, Chief of the Division of Genetics and Genomics at Boston Children's Hospital, an Investigator of the Howard Hughes Medical Institute, and an Associate Member of the Broad Institute. Dr. Walsh completed the PhD degree in neurobiology at the University of Chicago with Dr Rainer W. Guillery, who inspired him to study how genes construct the human brain. After finishing the MD, he completed neurology residency and chief residency at Massachusetts General Hospital, and then postdoctoral training in Genetics at Harvard Medical School with Dr. Connie Cepko, where he developed methods to trace dividing and migrating cells in developing brain. In 1993 he became Assistant Professor of Neurology at Harvard and Beth Israel Deaconess Medical Center, where he began studying rare genetic disorders that disrupt the development of the human cortex, causing intellectual disability and epilepsy. He pioneered the analysis of these conditions, identifying genes for dozens of such disorders, as well as studying consanguineous families from the Middle East to identify the first recessively inherited mutations for autism spectrum disorders. From 2003-2007 he served as Director of the Harvard-MIT Combined MD-PhD training program. He moved to Boston Children’s Hospital in 2006, becoming Chief of Genetics and of Genetics and Genomics in 2013.

Surprisingly, his research showed that a number of the genes essential for human brain development were also targets of the evolutionary processes that endow humans with our unique brain, and this led Dr. Walsh to inaugurate in 2017 (with Michael Greenberg and David Reich) the Allen Discovery Center for Human Brain Evolution at Boston Children’s Hospital and Harvard Medical School. Dr. Walsh’s research has been recognized by the Javits Award from the National Institute for Neurological Disease and Stroke, the Dreifuss-Penry Epilepsy Award from the American Academy of Neurology, the Denny-Brown and Jacoby Awards from the American Neurological Association, the Clinical Research Award from the American Epilepsy Society, the Pruzansky Award from the American College of Medical Genetics, and the Perl-Neuroscience Award from the University of North Carolina. He has served as a member of the National Advisory Mental Health Council since 2016. Dr. Walsh is an elected member of the American Association of Physicians, the American Association for the Advancement of Sciences, the National Academy of Medicine, the American Academy of Arts and Sciences, and the National Academy of Sciences.