UCL: Synaptopathies Symposium

The Synaptopathies initiative is funded by a Strategic Award from the Wellcome Trust to a team of researchers at the UCL Institute of Neurology and King’s College London, led by Professor Dimitri M Kullmann. The grant was awarded in 2014 with a start date in April 2015.

UCL Institute of Neurology - Synaptopathies

<H2>                                 2016 Annual Synaptopathies Symposium</H2>
<H2>                                                              At </H2>
<H2>                                          UCL Institute of Neurology</H2>
<H2>                                                              On                                          </H2>
<H2>                                       Thursday, 6th October, 2016</H2>
 
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<H3>About the symposium</H3>
 
Epilepsy, migraine and related paroxysmal neurological disorders affect over 15% of the population, and account for an enormous burden to the individual and to society. Progress in managing these diseases is slow, with many patients failing to respond to available medication. Understanding the mechanisms will be an essential step not only towards improved diagnosis, but also towards the development of rational therapies.
 
Epilepsy and migraine both exhibit strong heritability. Mendelian inheritance is however very uncommon, and only a few genes have been identified in the rare families where monogenic inheritance can be demonstrated. These genes overwhelmingly point to disorders of synaptic transmission. Polygenic variability of synaptic genes is highly likely to contribute to common sporadic forms of these diseases.
 
This proposal brings together complementary expertise in (i) clinical genetics and deep phenotyping of people affected by epilepsy, migraine and paroxysmal movement disorders, (ii) biophysics of presynaptic vesicle trafficking and exocytosis, (iii) the interaction of postsynaptic receptors, ion channels and perisynaptic neurotransmitter transporters, and (iv) vertebrate, invertebrate and human-derived cellular models of synaptic disorders.
 
<H3>Programme</H3>
<HR>
8.25            Registration, coffee
9.00            Dimitri Kullmann (UCL-IoN): Introduction
<HR>
<H3 CLASS="MsoNormal">Session 1</H3>
9.05            (Chair: Henry Houlden)
9.05            John Hardy (UCL-IoN) “Genomics of neurodegeneration”
9.40            Michael Johnson (Imperial) “Systems genetics discovery of 
                    neurodevelopmental pathways “
10.15          Vincenzo Salpietro (UCL-IoN) “Genetic analysis of paroxysmal disorders”
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10.40          Coffee
<HR>
<H3 CLASS="MsoNormal">Session 2</H3>
11.10          (Chair: Stephanie Schorge)
11.10          David Bennett (Oxford) “Regulation of excitability within the somatosensory 
                    system by CASPR2”
11.45          Shyam Krishnakumar (Yale): “Delineating the function of PRRT2 and its 
                   role in paroxysmal neurological disorders”
12.20          Mala Shah (UCL) “Axonal and synaptic KV7/KCNQ channel function and
                   modulation”
<HR>
12.55          Lunch & Posters         
<HR>
<H3 CLASS="MsoNormal">Session 3</H3>
14.00          (Chair: James Jepson)
14.00          Frank Hirth (King’s) "Mechanisms of G4C2/TDP-43 induced synaptopathy in a 
                    Drosophila model of ALS/FTD”
14.35          Kofan Chen (UCL-IoN) “Mapping a genetic network underlying myoclonus dystonia
                   using Drosophila”
15.00          Beatriz Rico (King’s) "GABAergic circuitry assembly and schizophrenia"
<HR>
15.35          Tea
<HR>
Session 4
16.00          (Chair: Sanjay Sisodiya)
16.00          Pat Nolan (Harwell) “Investigating sleep and behavioural disturbances in a mouse
                   SNARE protein mutant”
16.35          Gabriele Lignani (UCL-IoN) “Increasing endogenous gene promoter efficiency as a strategy to     
                   rescue chronic epilepsy and haploinsufficiency in epilepsy”
17.00          Holger Lerche (Tübingen) “Precision medicine in genetic epilepsies”
<HR>
17.35          Reception
<HR>
The symposium offers the opportunity to present research posters.  Please submit an abstract by 16 September. Priority will be given to posters that report original research using cellular, molecular, genetic and circuit methods relevant to neurological and psychiatric disorders. Poster submitters will be notified by 23 September to confirm whether their abstracts have been accepted.  
Abstracts should be structured as follows:
Title Authors and affiliations Abstract (200 words)
 
Abstracts to be sent to: <A HREF="mailto:Juliet.solomon@ucl.ac.uk" TARGET="_blank" REL="nofollow noopener noreferrer">Juliet.solomon@ucl.ac.uk</A>
 
Supported by the Wellcome Trust through a Strategic Award on Synaptopathies
 <A HREF="http://www.ucl.ac.uk/ion/synaptopathies" TARGET="_blank" TITLE="Synaptopathies" DATA-MSYS-CLICKTRACK="0" REL="nofollow noopener noreferrer">www.ucl.ac.uk/ion/synaptopathies</A>
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Speakers
Professor Michael Johnson
Professor Michael Johnson is Professor of Genomic Medicine and Clinical Neurology, and Deputy Head of the Centre for Clinical Translation in the Division of Brain Sciences at Imperial College London. His research is focussed on the use of network systems genetics to inform pathophysiological pathways and new drug therapies.
Dr. Ko-Fan Chen 
Dr Ko-Fan Chen completed his degrees in Taiwan (1998-2005) before he studied his PhD with Ralf Stanewsky at Queen Mary, University of London using the model organism Drosophila to identify novel molecular mechanisms underlying circadian behaviours (2007-2011).  Ko-Fan then joined Damian Crowther at University of Cambridge as a postdoctoral research associate to investigate the neuronal and molecular mechanisms underlying circadian abnormalities in Alzheimer’s disease (2012-2015).  Here, Ko-Fan was first to demonstrate that the molecular circadian clock remains intact in the face of behavioural arrhythmia in a Drosophila Alzheimer’s model.  Since joining James Jepson at the UCL Institute of Neurology in 2015, Ko-Fan has continued his interest in disease modelling and investigated the genetic network underlying myoclonus dystonia. 
 Prof. Dr. Holger Lerche, MD
Department of Neurology and Epileptology, Hertie-Institute for Clinical Brain Research, 
University of Tübingen, Tübingen, Germany
Prof. Dr. Holger Lerche is Clinical Director and Head of the Department of Neurology and Epileptology at the Hertie Institute of Clinical Brain Research at the University of Tübingen, Germany. After graduating from the Medical School at Ludwig-Maximilians University in Munich, he undertook research in neurophysiology, and residencies in neurology, psychiatry and epileptology at institutions in Germany. He was a consultant neurologist and Head of Epileptology in the Department of Neurology at the University of Ulm from 2001 to 2009, being a Heisenberg fellow of the DFG from 2003 to 2008 during which he also undertook research fellowships in London, UK, and Melbourne, Australia, before taking up his current position in Tubingen. His main research interest is to unravel the genetics and pathophysiology of inherited epilepsies and related paroxysmal disorders using a combination of genetic and neurophysiological tools. He is also interested in molecular ion channel function, their specific roles in the brain and their pharmacology. More recently, he started projects also in harmacogenetics of the epilepsies. 
Holger Lerche is a former president of the German chapter of the ILAE, he was a board member of the Genetics Commission of the ILAE from 2006 to 2009 and a board member fo the ILAE Task Force for Translational Research, and has served of the Editorial Board of Epilepsia (2003-2006)
Dr. Gabriele Lignani
Dr. Gabriele Lignani received his BSc in Medical Biotechnology from the University of Milan, followed by an MSc in the same subject from the University of Genoa. In 2012 he obtained his PhD in Experimental Neuroscience from the University of Genoa, before taking up a research associate position at the Italian Institute of Technology under Prof. Fabio Benfenati. In 2014 he joined the Department of Clinical and Experimental Epilepsy at the UCL Institute of Neurology, working jointly under Dr. Stephanie Schorge and Prof. Dimitri Kullmann. Gabriele was recently awarded a Marie Skłodowska-Curie Individual Fellowship to study novel gene editing techniques for epilepsy gene therapy.
Professor David Bennett
David is Professor of neurology and neurobiology at the University of Oxford and honorary consultant neurologist. His sub-specialty interest is peripheral neuropathy as well as neuropathic pain and he administers the neuropathy clinic at Oxford University Hospitals. He qualified from Guy’s and St Thomas’ medical school London and was subsequently appointed consultant neurologist at King’s College Hospital. He received an intermediate and has then a senior Wellcome clinical scientist fellowship and moved to Nuffield Department of Clinical Neuroscience in 2012. He is a member of the London Pain Consortium and is director of the DOLORisk consortium funded by the EU Horizon 20.20 programme investigating risk factors and determinants of neuropathic pain. His current research interest is to understand the pathogenesis of nerve injury in order to promote nerve repair and prevent the development of neuropathic pain. He takes a broad experimental approach to this problem ranging from the study of transgenic mouse models to the investigation of patients with rare inherited neuropathies and painful channelopathies.
Professor Beatriz Rico 
Professor Beatriz Rico is interested in understanding how genes are involved in the development of neuronal circuits and what are the consequences on the disruption of these genes during development. In the last years, her lab has highlighted the relevance of cortical GABAergic circuitry in cognitive function, and their possible implication in the pathophysiology of developmental disorders, particularly in schizophrenia. Her work has been recognised by the European Molecular Biology Organisation with the Young Investigator Award, EMBO YIP 2010 and she has been granted with an European Research Council Grant (ERC-Consolidator) and a Wellcome Investigator award.
Professor Beatriz Rico is Professor of Developmental Neurobiology. She received her PhD in the University Autónoma of Madrid and she did her postdoctoral research in University of California at San Francisco. In 2004 she got a Ramon y Cajal position at the Institute of Neuroscience in Alicante (IN), Spain (CSIC-UMH), and then in 2005 she become an Assistant Professor at the CSIC in the IN. In 2014, she was recruited with a Professorship position at King’s College London. Rico’s lab is interested in understanding how genes are involved in the development of neuronal circuits and the consequences on their disruption. In the last years, her lab has highlighted the relevance of cortical GABAergic circuitry in cognitive function, and their possible implication in the pathophysiology of developmental disorders, particularly in schizophrenia. Her work has been recognised by the European Molecular Biology Organisation with an EMBO YIP 2010 and she has been granted with an ERC-Consolidator grant and a Wellcome Investigator award.
Professor Mala Shah
Professor Mala Shah obtained a PhD at the Department of Pharmacology, University College London during which time she carried out work on characterising the slow afterhyperpolarization in hippocampal neurons. She subsequently won a Wellcome International Prize Travel Research Fellowship to work in Professor Daniel Johnston’s laboratory at Baylor College of Medicine (Texas, USA) where she started her work on understanding ion channel properties and function in entorhinal cortical dendrites under physiologic and epileptic conditions. In 2004, she returned to the Department of Pharmacology, University College London as a Senior Research Fellow in Professor David Brown’s laboratory and continued her studies on the functional significance of subcellular distribution of ion channels in hippocampal and cortical neurons during normal and epileptogenic conditions through funding received from the Wellcome Trust and Epilepsy Research Foundation. In 2007 she won the prestigious MRC New Investigator Award and joined the Pharmacology Department at UCL School of Pharmacy as a lecturer. She is currently a Professor of Neuroscience within UCL School of Pharmacy.
Dr. Shyam S. Krishnakumar
Dr. Shyam S. Krishnakumar is a Research Scientist at Yale University, New Haven and a Honorary Senior Research Associate at Institute of Neurology, UCL. Dr. Krishnakumar leads the Synaptic Biochemistry/Biophysics group with Prof. James Rothman at Yale and UCL. He has a MS in Biotechnology from Indian Institute of Technology (IIT)-Bombay and Ph.D. in Biochemistry/Structural Biology from Stony Brook University, NY.
Dr. Vincenzo Salpietro Damiano 
I trained in Medicine and qualified cum laude at the University of Messina in 2009. I subsequently worked as specialist registrar in Pediatrics, from 2010 to 2015, in the Departments of Pediatrics of different italian Universities (Messina, Catania, Pavia) and qualified as specialist in Paediatrics in 2015. During my clinical training I had the opportunity to work as Clinical Research Fellow of Pediatric Neurology in London at Chelsea and Westminster Hospital (2013-2014). During the last 3 years I progressively developed a deep interest to understand the molecular bases of early-onset neurological diseases, including movement disorders, ataxias, epileptic encephalopathies and rare sleep/headache disorders.  This led me to join the laboratories of Professor Houlden, Prof Hanna and Professor Rothman. 
I was appointed as Clinical Research Associate in the Department of Molecular Neuroscience at the UCL Institute of Neurology in July 2015, where I am hoping to complete my PhD. The predominant focus of my research is genetics of human synaptopathies and paroxysmal neurological disorders caused by disturbances of synaptic transmission and neuronal excitability.
Dr. Pat Nolan
Dr Nolan is Head of Neurobehavioural Genetics at MRC Harwell. His work routinely uses approaches focused on generating and characterising mouse models with behavioural deficits. This includes the use of null mutants, transgenics and mutants with ENU-induced point mutations. Furthermore, Dr Nolan has assembled an extensive battery of behavioural screens. This includes screening for circadian and sleep, tests for anxiety and sensorimotor gating and tests for cognitive function. His group has also been working on developing new discriminatory tests in mice and has published on the utility of some of these new tests in the behavioural characterization of mouse models.
Dr. Frank Hirth
Frank Hirth is Reader in Evolutionary Neuroscience at the Institute of Psychiatry, Psychology and Neuroscience, King's College London. He received his PhD in Zoology at the University of Basel in Switzerland and trained in neurogenetics at the universities of Freiburg, Basel and the MRC National Institute for Medical Research in London. His group at King's uses the fruitfly Drosophila to study neural circuit formation and their degenerative dysfunction with an emphasis on action selection in health and disease.
 
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