Thomas Bourgeron, Pasteur Institute, France

 

After a Masters in the field of plant biology, Thomas Bourgeron obtained his PhD in human genetics to study mitochondrial diseases. As a PhD student, he identified the first mutation of the Krebs cycle in humans.  During his postdoctoral stage, he identified the first nuclear mutation of the respiratory chain in humans. He then obtained a permanent position as Assistant Professor at University Paris Diderot and joined the Institut Pasteur to study the evolution of the X and Y chromosomes.  In 2003, he had a position as Professor and established his own laboratory to study the genetics of autism spectrum disorders (ASD). His main result is the identification of the first genes associated with ASD. The mutations concern cell adhesion molecules (NLGN3, NLGN4X, and NRXN1) and scaffolding proteins (SHANK1, SHANK2 and SHANK3), which are crucial factors for appropriate synaptic function. In parallel, he identified genetic mutations disrupting melatonin synthesis in individuals with ASD. Finally, he characterized the behaviour of several mouse models of ASD related to the NLGN-SHANK pathway. On the bases of these results, his present projects aim to understand the role of the synaptic and circadian-clock genes in the development of language and social communication in humans. In 2015, he was elected to the French Academy of Science.

 

Valsamma Eapen, University of NSW, Australia

 

Professor Eapen is currently Chair of the Infant, Child and Adolescent Psychiatry at the University of New South Wales (UNSW) Australia and Head of the Academic Unit of Child Psychiatry, South West Sydney (AUCS). After graduating in Medicine in India she continued her clinical training at the University College London Hospital and Child Psychiatry training at the Institute of Child Health and Great Ormond Street Hospital for Sick children and undertook PhD research at the National Hospital for Neurology and Neurosurgery, Queen Square London. As a Child Psychiatrist with special expertise in neurodevelopmental disorders, her research interests include Tourette syndrome, Autism, and ADHD as well as neurobiological underpinnings of attachment. She has a particular interest in universal surveillance programs for early identification and intervention of developmental disorders and health equity. She has published extensively with around 200 publications including 5 books.

Kim Cornish, Monash University, Australia

 

Professor Kim Cornish is a developmental cognitive neuroscientist and directs the Cornish Developmental Laboratory in the Monash School of Psychological Sciences, of which she is Head of School and Deputy Dean of the Faculty of Biomedical and Psychological Sciences.  Prior to this appointment, Professor Cornish was appointed the Canada Research Chair (Tier 1) in Developmental Neuroscience and Full Professor at McGill University, one of the youngest recipients to achieve this prestigious combination of awards (2002-2009). ). She currently retains an Adjunct Professorship in the Department of Neurology & Neurosurgery at the Montréal Neurological Institute and is special professor in the Division of Developmental Psychiatry at Nottingham University in the UK.  Professor Cornish is recognised internationally for her work in the field of neurodevelopmental disorders, genes and atypical cognitive pathways including cognitive control deficits.  The interdisciplinary nature of her work has resulted from numerous research awards world-wide including the Wellcome Trust (UK), the National Institute of Health (NIH; USA), Canadian Institutes of Health (CIHR), and Canada Foundation for Innovation (CFI), and most recently the Australian Research Council. Her work has been published in Brain, Neurology, Molecular Psychiatry, Neurobiology of Aging, and Science Translation Medicine.

Ryan Yuen, Hospital for Sick Children, Canada

 

Ryan Yuen is a Research Associate working with Dr. Stephen Scherer in the Genetics and Genome Biology Program at the Hospital for Sick Children from Toronto. He obtained his PhD degree in Medical Genetics from the University of British Columbia, where he studied epigenetics in human development. His current research focuses on developing novel methodologies to study Autism Spectrum Disorder and other related neurodevelopmental disorders using whole genome sequencing technologies. Ryan has received the Autism Speaks Meixner Postdoctoral Fellowship in Translational Research. He currently holds the NARSAD (National Alliance for Research on Schizophrenia and Depression) Young Investigator Grant and the Thrasher Research Fund Early Career Award.

 

Ingrid Scheffer, Florey Institute/University of Melbourne, Australia

 

Professor Ingrid Scheffer is a physician-scientist whose work as a paediatric neurologist at the University of Melbourne and Florey Institute has led the field of epilepsy genetics over 20 years, with Professor Samuel Berkovic and molecular geneticists. This resulted in identification of the first epilepsy gene and many genes subsequently. Professor Scheffer has described many novel epilepsy syndromes and genotype–phenotype correlation. She recently led the first reclassification of the epilepsies in two decades as Chair of the International League against Epilepsy Commission for Classification. Her awards include American Epilepsy Society Clinical Research Award and L’Oréal-UNESCO Women in Science Laureate for the Asia-Pacific region. In 2014, she was elected as a Fellow of the Australian Academy of Science and as inaugural Vice-President of the Australian Academy of Health and Medical Sciences. Professor Scheffer was awarded the Order of Australia and, together with Professor Berkovic, the Prime Minister’s Prize for Science.

Genevieve Konopka, UT Southwestern, USA

Genevieve Konopka received dual B.S. degrees in Brain and Cognitive Sciences and Biology from MIT. She then completed her Ph.D. in Neurobiology at Harvard University with Dr. Azad Bonni studying pathways important for astrocyte differentiation. She next carried out postdoctoral work at UCLA in the lab of Dr. Daniel Geschwind where she uncovered human-specific transcriptional networks relevant to human brain evolution, language and cognition. In 2011, she was appointed as an Assistant Professor of Neuroscience and the Jon Heighten Scholar in Autism Research at UT Southwestern Medical Center in Dallas, Texas. Much of her current work focuses on transcription factors important for language and cognition, in particular the FOXP family of transcription factors. Her lab uses a combination of primary human neurons, mouse models, and primate comparative genomics to uncover human-specific, disease-relevant patterns of gene expression. Projects in her lab are uncovering genomic pathways related to autism, schizophrenia, and Alzheimer’s disease. Recent work in her lab integrates gene expression with signatures of neuronal activity in both mouse and human brain.

Zoltan Molnar, Oxford University, UK

 

Zoltán Molnár obtained his M.D. at the Albert Szent-Györgyi Medical University, Szeged, Hungary where he studied physiology from Professor George Benedek and started his residency in Neurological Surgery in the institute of Professor Mihaly Bodosi until he moved to Oxford in 1989. He earned his D.Phil. at the University Laboratory of Physiology in the laboratory of Professor Colin Blakemore FRS studying the “Multiple mechanisms in the establishment of thalamocortical innervation”. He continued his work on cerebral cortical development at Oxford as an MRC training fellow and Junior Research Fellow at Merton College. He also investigated thalamocortical development working with Professor Egbert Welker at the Institut de Biologie Cellulaire et de Morphologie, Université de Lausanne, Switzerland, and learned optical recording techniques to understand early functional thalamocortical interactions in the laboratory of Professor Keisuke Toyama at Kyoto Prefectural School of Medicine, Japan.  He was appointed to a University Lecturer position at the Department of Human Anatomy and Genetics associated with a Tutorship at St John's College, Oxford from 2000. He was awarded the title Professor of Developmental Neuroscience in 2007.  Professor Molnar's recent work emphasizes the importance of the study of transient features of the developing cerebral cortex to better understand cognitive disorders.

Toru Takumi, RIKEN Brain Institute, Japan

 

After finishing medical school, Dr. Toru Takumi received PhD from Kyoto University under the guidance of Professor Shigetada Nakanishi. His thesis work is the identification of KCNE1, a protein with a single transmembrane consisting of a channel complex (now known as a cause gene for Jervell and Lange-Nielsen syndrome, characterized by long QT syndrome and deafness) by expression cloning using Xenopus oocytes. He had been studied membrane proteins for the first ten years during his scientific career including post-doc as a HFSP fellow at MIT with Dr Harvey F Lodish and Osaka University as an assistant professor. He has been working on biological clock since the middle 90’s and identified mammalian clock genes in Kobe University. He became PI at Osaka Bioscience Institute and started a new project on molecular basis of brain functions. His neurobiological studies revealed a function of TLS/FUS, an RNA-binding protein, in neurons, which now attracts neuroscientist’s attention as a cause gene for ALS. A lesson in the research history of circadian rhythm makes him to produce an artificial founder mouse for forward genetics. He succeeded to generate a mouse model for autism based on human chromosomal abnormality. He moved to Hiroshima University as a full professor and had been teaching anatomy (!) for medical students. In 2012, he was appointed to a senior team leader at RIKEN Brain Science Institute to study mental disorders including autism spectrum disorder. Currently he is also an adjunctive professor of the University of Tokyo, Saitama University and Hiroshima University.