Embed Size (px)
Citation preview
This summit will discuss the ever-growing field of research surrounding metabolic disorders,
metabolomics and therapies. From congenital disorders to inherited metabolic diseases, this event
will investigate the cutting-edge developments in an informal academic setting, in an atmosphere
conducive to debate and discussion.
With a number of sessions over three days, many aspects of the metabolome will be covered,
bringing together those working in academia, medicine, biotechnology and pharmaceuticals.
This event has CPD accreditation
www.lifescienceevents.com/Metabolism2016
#Metabolism2016
3EuroSciCon Ltd. Registered in England and Wales, Company number: 4326921, Trading Address: Euroscicon Ltd, Highstone House, 165 High Street, Barnet, Herts.
EN5 5SU, UK. Registered Office: 47 High Street, Barnet, Herts, EN5 5UW, UK
Contents
AGENDA .................................................................................................................................................. 6
Day 1: Aetiology and Pathogenesis ....................................................................................................... 6
Introduction by the Chair ........................................................................................................................ 6
The molecular basis of childhood-onset mitochondrial diseases ........................................................... 6
Biliary transporter mutations; implications for gestational liver disease ............................................... 6
Neurometabolic Disorders in Children ................................................................................................... 6
Gut motility disorders in CHARGE syndrome .......................................................................................... 6
Using Dried Blood Spot Testing in the management of Tyrosinaemia Type 1 ....................................... 6
Poster Review and Exhibitions ................................................................................................................ 6
Role and regulation of the RNA-binding protein Bicc1 in cystic kidney diseases ................................... 6
Question Time ......................................................................................................................................... 6
Day 2: Session 1: Diagnosis and Monitoring ......................................................................................... 7
Introduction by the Chair ........................................................................................................................ 7
Circulating microRNAs as markers of the liver neoplastic process in a mouse model of hereditary
tyrosinemia ............................................................................................................................................. 7
Steroid profiling for rare diseases ........................................................................................................... 7
Biochemical insights into Primary hyperoxaluria type III. ...................................................................... 7
Treatable Neurometabolic Diseases in the 21st Century ....................................................................... 7
GRK2 as a new integrative node in obesity and insulin resistance: multi organ effects ........................ 7
The impact of genomics on rare disease research ................................................................................. 7
Next Generation Sequencing (NGS) approach to discovery of rare neuro-metabolic disorders ........... 7
Day 2: Session 2: Dysautonomia ............................................................................................................ 7
Introduction by the Chairs ...................................................................................................................... 7
Managing Familial Dysautonomia in a North London DGH: A paediatrician's steep learning curve...... 7
Familial Dysautonomia: Genotype, Phenotype and Translational Research .......................................... 7
Autonomic Dysfunction in Familial Dysautonomia ................................................................................. 7
Respiratory Problems in Familial Dysautonomia .................................................................................... 7
Mobile application for balance training in people with familial dysautonomia: three case reports ..... 7
Day 3: Therapeutic strategies and interventions .................................................................................. 8
Introduction by the Euroscicon ............................................................................................................... 8
Gene and Cell therapy approaches for Rare Diseases ............................................................................ 8
EU funding of rare diseases research: rare metabolic disorders in the spotlight .................................. 8
Refreshments provided........................................................................................................................... 8
Cholic acid therapy in Zellweger spectrum disorders ............................................................................. 8
4EuroSciCon Ltd. Registered in England and Wales, Company number: 4326921, Trading Address: Euroscicon Ltd, Highstone House, 165 High Street, Barnet, Herts.
EN5 5SU, UK. Registered Office: 47 High Street, Barnet, Herts, EN5 5UW, UK
Alkaptonuria - Metabolic response to treatment with Nitisinone ......................................................... 8
Poster viewing ......................................................................................................................................... 8
Computational approaches to targeted drug design in metabolic diseases .......................................... 8
DevelopAKUre: a patient-led clinical trial for a rare disease .................................................................. 8
Innovative treatment of the porphyrias ................................................................................................. 8
Refreshments provided........................................................................................................................... 8
Enzyme replacement therapy for lysosomal storage disorders: the pharmacology of marginal gains . 8
Recent Advances in the Treatment of Mitochondrial Ophthalmic Diseases .......................................... 8
ABOUT THE SPEAKERS ............................................................................................................................ 9
Darren Ames, .......................................................................................................................................... 9
Daniel Constam ....................................................................................................................................... 9
Rosalee Gefen, ........................................................................................................................................ 9
Ellen Merete Hagen, ............................................................................................................................... 9
Umur A. Kayabasi, ................................................................................................................................... 9
Vimal Karani S, ........................................................................................................................................ 9
Kerry Loomes ........................................................................................................................................ 10
Robin Lachmann,................................................................................................................................... 10
Su Laurent, ............................................................................................................................................ 10
Anna M Milan, ....................................................................................................................................... 10
Adina Milac, .......................................................................................................................................... 10
Cristina Murga, ...................................................................................................................................... 10
Channa Maayan, ................................................................................................................................... 11
Jonathan Milner, ................................................................................................................................... 11
Lucy Norcliffe-Kaufmann, ..................................................................................................................... 11
Bwee Tien Poll-The, .............................................................................................................................. 11
Germaine Pierre, ................................................................................................................................... 12
Martino Picardo, ................................................................................................................................... 12
Shamima Rahman, ................................................................................................................................ 12
Maja Tarailo-Graovac, ........................................................................................................................... 12
Oliver Timmis, ....................................................................................................................................... 12
Robert M. Tanguay,............................................................................................................................... 13
Bruno Vogt, ........................................................................................................................................... 13
Clara van Karnebeek, ............................................................................................................................ 13
Catherine Williamson, ........................................................................................................................... 13
ABOUT THIS EVENT ............................................................................................................................... 14
5EuroSciCon Ltd. Registered in England and Wales, Company number: 4326921, Trading Address: Euroscicon Ltd, Highstone House, 165 High Street, Barnet, Herts.
EN5 5SU, UK. Registered Office: 47 High Street, Barnet, Herts, EN5 5UW, UK
FREQUENTLY ASKED QUESTIONS ABOUT OUR EVENTS ........................................................................ 15
..............................................................................................................................................................................................................16
6EuroSciCon Ltd. Registered in England and Wales, Company number: 4326921, Trading Address: Euroscicon Ltd, Highstone House, 165 High Street, Barnet, Herts.
EN5 5SU, UK. Registered Office: 47 High Street, Barnet, Herts, EN5 5UW, UK
AGENDA PLEASE NOTE: DUE TO SECURITY CONTROLS, THERE IS NO ACCESS TO THE VENUE BEFORE 9AM
(Invited Talk times include 5 – 10 minutes for question; Oral presentations include 2-3 minutes for questions)
Day 1: Aetiology and Pathogenesis 09:00 – 09:45 Exhibitions open Registration and Refreshments
09:45 – 10:30 Introduction by the Chair The molecular basis of childhood-onset mitochondrial diseases
Professor Shamima Rahman, UCL Institute of Child Health, London, United Kingdom
10:30 – 11:10 B12 deficiency and Gestational diabetes – an update
Dr Vimal Karani S, University of Reading, Food & Nutritional Sciences, School of Chemistry Food & Pharmacy, Reading, United Kingdom
11:10 – 11:30 Poster Review and Exhibitions Refreshments provided
11:30 – 12:10 Biliary transporter mutations; implications for gestational liver disease
Professor Catherine Williamson, King’s College London, London, United Kingdom
12:10 – 12:50 Neurometabolic Disorders in Children Dr. Germaine Pierre, UHBT, Education Centre, Bristol, United Kingdom
12:50 – 13:40 Lunch Break with Exhibitions Poster viewing
13:40 – 14:20 Gut motility disorders in CHARGE syndrome Dr. Kim Blake, Dalhousie University, Halifax, Canada
14:20 – 15:00 Using Dried Blood Spot Testing in the management of Tyrosinaemia Type 1
Dr Roshni Vara, Evelina Children’s Hospital St Thomas’ Hospital, UK
15:00 – 15:30 Poster Review and Exhibitions Refreshments provided
15:30 – 15:45
15:45 – 16:25 Role and regulation of the RNA-binding protein Bicc1 in cystic kidney diseases
Professor Daniel Constam, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland
16:25 – 17:00 Question Time
16:25 – 17:00 Chairman’s Summing Up Close of Session
PLEASE NOTE: TIMES ARE SUBJECT TO CHANGE
7EuroSciCon Ltd. Registered in England and Wales, Company number: 4326921, Trading Address: Euroscicon Ltd, Highstone House, 165 High Street, Barnet, Herts.
EN5 5SU, UK. Registered Office: 47 High Street, Barnet, Herts, EN5 5UW, UK
AGENDA PLEASE NOTE: DUE TO SECURITY CONTROLS, THERE IS NO ACCESS TO THE VENUE BEFORE 9AM
(Invited Talk times include 5 – 10 minutes for question; Oral presentations include 2-3 minutes for questions)
Day 2: Session 1: Diagnosis and Monitoring 09:00 – 09:45 Exhibitions open Registration and Refreshments
09:45 – 10:20 Introduction by the Chair Circulating microRNAs as markers of the liver neoplastic process in a mouse model of hereditary tyrosinemia
Professor Robert M. Tanguay, Dept Biologie moléculaire, Biochimie médicale & pathologie, Medical School, Université Laval, Québec, Canada
10:20 – 10:45 Steroid profiling for rare diseases Dr Bruno Vogt, Inselspital, University Hospital of Bern, Bern, Switzerland
10:45 – 11:10 Biochemical insights into Primary hyperoxaluria type III.
Dr Kerry Loomes, School of Biological Sciences, University of Auckland, Auckland, New Zealand
10:10 – 11:30 Poster Review and Exhibitions Refreshments provided
11:30 – 11:55 Treatable Neurometabolic Diseases in the 21st Century
Dr. Clara van Karnebeek, University of British Columbia, Vancouver, Canada
11:55 – 12:20 GRK2 as a new integrative node in obesity and insulin resistance: multi organ effects
Dr Cristina Murga, Centro de Biología Molecular Severo Ochoa (CSIC-UAM), Madrid, Spain
12:20 – 12:45 The impact of genomics on rare disease research
Dr Jonathan Milner, Lead Investor & Director, Healx Ltd, Cambridge, United Kingdom
12:45 – 13:10 Next Generation Sequencing (NGS) approach to discovery of rare neuro-metabolic disorders
Dr Maja Tarailo-Graovac, Centre for Molecular Medicine and Therapeutics, Vancouver, Canada
13:10 – 13:25 THE USE OF PHENOMICS IN THE DIAGNOSIS,
TREATMENT AND POTENTIAL TREATMENT OF LAMINOPATHIES
Darren Ames, University of Newcastle (UK)/ Newcastle University Hospitals Trust, Newcastle, UK
13:25 – 14:25 Lunch Break with Exhibitions Poster viewing
Day 2: Session 2: Dysautonomia
14:25 – 14:35 Introduction by the Chairs
Professor Channa Maayan, Hadassah Medical Center, Kiryat Hadassah, Jerusalem, Israel and Dr Robin Lachmann, National Hospital for Neurology and Neurosurgery, London, United Kingdom
14:35 – 15:00 Managing Familial Dysautonomia in a North London DGH: A paediatrician's steep learning curve
Dr Su Laurent, Royal Free London NHS Foundation Trust, Barnet Hospital, Barnet, Hertfordshire, United Kingdom
15:00 – 15:25 Familial Dysautonomia: Genotype, Phenotype and Translational Research
Dr Lucy Norcliffe-Kaufmann, University School of Medicine, New York, United States
15:25 – 15:45 Last Poster Review and Exhibitions Refreshments provided
15:45 – 16:10 Autonomic Dysfunction in Familial Dysautonomia
Dr Ellen Merete Hagen, Consultant Neurologist, Autonomic Unit, National Hospital for Neurology & Neurosurgery, Queen Square, London, UK
16:10 – 16:35 Respiratory Problems in Familial Dysautonomia
Professor Channa Maayan, Hadassah Medical Center, Kiryat Hadassah, Jerusalem, Israel
16:35 – 17:00 Mobile application for balance training in people with familial dysautonomia: three case reports
Rosalee Geffen, The Zinman College of Physical Education & Sport Sciences, Wingate Institute, Netaneya Israel
17:00 Chairman’s Summing Up Close of Session
PLEASE NOTE: TIMES ARE SUBJECT TO CHANGE
8EuroSciCon Ltd. Registered in England and Wales, Company number: 4326921, Trading Address: Euroscicon Ltd, Highstone House, 165 High Street, Barnet, Herts.
EN5 5SU, UK. Registered Office: 47 High Street, Barnet, Herts, EN5 5UW, UK
AGENDA PLEASE NOTE: DUE TO SECURITY CONTROLS, THERE IS NO ACCESS TO THE VENUE BEFORE 9AM
(Invited Talk times include 5 – 10 minutes for question; Oral presentations include 2-3 minutes for questions)
Day 3: Therapeutic strategies and interventions 09:00 – 09:45 Exhibitions open Registration and Refreshments
09:45 – 9:50 Introduction by the Euroscicon
9:50 – 10:20 Gene and Cell therapy approaches for Rare Diseases
Dr. Takis Athanasopoulos, University of London, Egham, United Kingdom
10:20 – 10:50 EU funding of rare diseases research: rare metabolic disorders in the spotlight
Dr Egle Simelyte, AKU Society, Cambridge, United Kingdom
10:50 – 11:20 Poster Review and Exhibitions Refreshments provided
Poster Review and Exhibitions Refreshments provided
11:20 – 11:35 Cholic acid therapy in Zellweger spectrum disorders
Bwee Tien Poll-The, Pediatric Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands
11:35 – 12:05 The role of Open Innovation in development of new therapies for rare diseases
Dr Martino Picardo, Stevenage Bioscience Catalyst, Stevenage, Herts, United Kingdom
12:05 – 12:35 Alkaptonuria - Metabolic response to treatment with Nitisinone
Dr Anna M Milan, Royal Liverpool and Broadgreen University Hospitals, Liverpool, United Kingdom
12:35 – 13:30 Lunch Break with Exhibitions Poster viewing
13:30 – 14:00 Computational approaches to targeted drug design in metabolic diseases
Dr Adina L. Milac, Department of Bioinformatics and Structural Biochemistry, Institute of Biochemistry of the Romanian Academy, Romania
14:00 – 14:30 DevelopAKUre: a patient-led clinical trial for a rare disease
Oliver Timmis, AKU Society, Cambridge, United Kingdom
14:30 – 15:00 Innovative treatment of the porphyrias Dr. Elisabeth Minder, Stadtspital Triemli - Stadt Zürich, Zürich, Switzerland
15:00 – 15:30 Session Break Refreshments provided
15:30 – 16:00 Enzyme replacement therapy for lysosomal storage disorders: the pharmacology of marginal gains
Dr Robin Lachmann, National Hospital for Neurology and Neurosurgery, London, United Kingdom
16:00 – 16:30 Recent Advances in the Treatment of Mitochondrial Ophthalmic Diseases
Dr. Umur A. Kayabasi, Lifemed Health Center, Uskudar University, Istanbul, Turkey
16:30 Chairman’s Summing Up Close of Session
PLEASE NOTE: TIMES ARE SUBJECT TO CHANGE
9EuroSciCon Ltd. Registered in England and Wales, Company number: 4326921, Trading Address: Euroscicon Ltd, Highstone House, 165 High Street, Barnet, Herts.
EN5 5SU, UK. Registered Office: 47 High Street, Barnet, Herts, EN5 5UW, UK
ABOUT THE SPEAKERS Darren Ames, University of Newcastle (UK)/ Newcastle University Hospitals Trust, Newcastle, UK Darren has been concerned with Biomedical Science for over 30 years. He has held a number of Managerial roles with a particular interest in Emerging technologies, Quality and Training. He is active as a Fellow of the Institute of Biomedical Science, including lecturing, and contributes to the work of UKAS. The last year can be described as a sabbatical with Darren driving the successful launch of the Molecular Pathology Laboratory at Newcastle - a successful collaboration of Newcastle University and the Hospitals Trust. This enterprise will hugely accelerate the translation of new methods from the Research laboratory into routine practice.
Daniel Constam, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland Daniel Constam studied natural sciences and obtained his doctoral degree at ETH Zürich. After postoctoral research at Harvard University as an EMBO fellow, he started his own lab at the Swiss institute for experimental cancer research (ISREC) in Lausanne. Since 2007, he is an Associate Professor in the School of Life Sciences at Ecole Polytechnique Féderale. His lab investigates the regulation of pluripotency and early patterning in the mouse embryo, and the role of cilia signal transduction pathways in polycystic kidney diseases. Rosalee Gefen, The Zinman College of Physical Education & Sport Sciences, Wingate Institute, Netaneya Israel Rosalee Gefen practices Phisiotherapy since graduting as B.P.T from Tel -Aviv University (1986). Diploma in Neurological Physiotherapy Tel-Aviv University (1999), M.A .Lesely University (2003), M.P.E Zinman Collage Wingate Netanya (2013). Published in Physical Therapy, Innovative Technologies, Special Issue, March 2015. Ellen Merete Hagen, Consultant Neurologist, Autonomic Unit, National Hospital for Neurology & Neurosurgery, Queen Square, London, United Kingdom Dr Hagen is a Consultant Neurologist in Autonomic Medicine at the National Hospital for Neurology and Neurosurgery, Queen Square, London. She studied Medicine at the University of Oslo, Norway, and did her specialist training in Neurology at Haukeland University Hospital, Bergen, Norway. In 2013-2014 Dr Hagen worked as an Associated Professor at Aarhus University and as a Consultant Neurologist in Spinal Cord Medicine and Head of Research at the Spinal Cord Injury Centre of Western Denmark, Department of Neurology, where she build an Autonomic Lab and developed a Research Unit at Spinal Cord Injury Centre of Western Denmark. Research interests: Autonomic Neurology, Spinal Cord Injuries, Epidemiology, Neurorehabilitation, Electronic Health Record Systems, Diagnostic Coding. Umur A. Kayabasi, Lifemed Health Center, Uskudar University, Istanbul, Turkey Graduated from Istanbul Medical Faculty. After completing the residency in Ophthalmology in Istanbul, a clinical fellowship program in neuro-ophthalmology was attended at Michigan State University, USA. Also, observership was done at Wills Eye Hospital, Philadelphia. Worked as a consultant neuro-ophthalmologist at different ophthalmology clinics in Istanbul. Published many articles and gave talks at different international meetings. Became an assistant professor at Uskudar University, Istanbul.
Vimal Karani S, University of Reading, Food & Nutritional Sciences, School of Chemistry Food & Pharmacy, Reading, United Kingdom Dr Vimal Karani is a Lecturer in Nutrigenetics. He has joined the University of Reading after his post-doctoral training at the MRC Epidemiology unit (Cambridge, UK) and University College London (London, UK). He also holds appointment as an Honorary Lecturer in Genetic Epidemiology at the University College London. Dr Vimal Karani has an interdisciplinary academic background, with qualifications from Medical Genetics, Bioinformatics, Molecular Biology and Genetic Epidemiology. His primary research interests focus on the investigation of gene-nutrient interactions on metabolic- and cardiovascular disease-
10EuroSciCon Ltd. Registered in England and Wales, Company number: 4326921, Trading Address: Euroscicon Ltd, Highstone House, 165 High Street, Barnet, Herts.
EN5 5SU, UK. Registered Office: 47 High Street, Barnet, Herts, EN5 5UW, UK
related outcomes using combined approaches from genetic epidemiology, statistical genetics and molecular biology. His long term goal is to use the findings from observational studies to carry out human intervention studies with a view towards developing industrial collaborations to facilitate 'Personalised Nutrition'. He is also a lead study co-ordinator of a large international collaboration (D-CarDia Collaboration), where he focuses on establishing the causal relationship between 25-hydroxyvitamin D and cardiovascular disease-related outcomes using Mendelian Randomization analysis. Kerry Loomes, School of Biological Sciences, University of Auckland, Auckland, New Zealand Kerry Loomes is based at the School of Biological Sciences at the University of Auckland, Auckland, New Zealand and an associate investigator of the Maurice Wilkins Centre. In addition to academia he has also worked in the Biopharmaceutical Industry with research interests in early stage drug discovery and identification of new therapeutic targets for the treatment of metabolic disease. His research spans diverse biological areas in the areas of fatty liver disease, amyloid disease, diabetic complications, and chronic kidney disease. He is primarily motivated by interesting biology and by researching areas that will hopefully benefit society.
Robin Lachmann, National Hospital for Neurology and Neurosurgery, London, United Kingdom Dr Lachmann heads the Charles dent metabolic Unit, the olodest and one of the largest centres looking after adults with inherited metabolic diseases. Su Laurent, Royal Free London NHS Foundation Trust, Barnet Hospital, Barnet, Hertfordshire, United Kingdom Su is a general paediatrician. She has been a consultant at Barnet Hospital since 1993 where she treats children of all ages and with a wide variety of conditions. She is the named doctor for safeguarding and the medical advisor for Child Bereavement UK. She broadcasts and writes books about children and parenting. Her most recent book is "Your Premature Baby" published by Dorling Kindersley. Her experience in treating children with FD has been learned on the job alongside the parents. She is still learning. Su has three children Anna M Milan, Royal Liverpool and Broadgreen University Hospitals, Liverpool, United Kingdom Dr Anna Milan is a Clinical Biochemist working within Liverpool Clinical Laboratories. Her interests lie in Alkpatonuria, bone markers and Vitamin D and connective tissue biochemistry. She has an extensive research background in mineralised tissue biochemistry prior to entering the NHS, where she continues to maintain a balance between clinical service provison and R&D. She has presented both nationionally and internationally and is part of the DevelopAKUre Consortium working towards an effective treatment for alkaptonuria. In addition she is also involved in education and is Regional Tutor for the North West STP Training Program. Adina Milac, Department of Bioinformatics and Structural Biochemistry, Institute of Biochemistry of the Romanian Academy, Romania Dr. Milac is currently main researcher at the Institute of Biochemistry of the Romanian Academy, where she conducts research in computational molecular biochemistry since 1999. In 2005, she obtained a PhD in Physics with cum laude honors from the Faculty of Physics, University of Bucharest, followed by five years of postdoctoral training in bioinformatics and computational biology at National Institutes of Health, Bethesda (USA). During over 15 years of experience in bioinformatics and computational biochemistry, she taught several courses of molecular modeling and simulation, bioinformatics and biostatistics and authored over 30 peer-reviewed scientific publications. Cristina Murga, Centro de Biología Molecular Severo Ochoa (CSIC-UAM), Madrid, Spain Dr. Cristina Murga graduated in Biochemistry at the Universidad Autonoma de Madrid (UAM) and obtained her PhD working on GPCR signalling. After a 5 year postdoctoral stay at the NIH where she characterized the activation of Akt by GPCRs, and novel roles of PI3K isoforms, she obtained an Associate Professorship at the UAM, and is now deputy director of the Centro de Biología Molecular "Severo Ochoa". Her current research relates to the study of the role of GRK2 kinase in the
11EuroSciCon Ltd. Registered in England and Wales, Company number: 4326921, Trading Address: Euroscicon Ltd, Highstone House, 165 High Street, Barnet, Herts.
EN5 5SU, UK. Registered Office: 47 High Street, Barnet, Herts, EN5 5UW, UK
development of insulin resistance, and in the regulation of obesity using murine model systems (aging and high fat feeding). Channa Maayan, Hadassah Medical Center, Kiryat Hadassah, Jerusalem, Israel Prof. Channa Maayan was the medical director of the Israeli Familial Dyautonomia Center at Hadassah Hospital Mount Scopus from 1981 - 2013. Since her retirement on 9.2013, she has continued to work there as a senior physician.. She has been active in clinical work ( about 250 FD patients) as well as in research. She is a pediatrician and specialist in pediatric pulmonary medicine. She did her Fellowship in Pediatric Pulmonary Unit, Hadassah, University Hospital, Mount Scopus Jerusalem as well as at Pediatric Pulmonary Unit, Massachusetts General Hospital, Harvard Medical School, Boston, U.S.A. She received the Exemplary Award for Distinguished Physician for the year 2000, from the Israeli Medical Association and the Association of Law and Medicine in Israel.
Jonathan Milner, Lead Investor & Director, Healx Ltd, Cambridge, United Kingdom Having worked in the life science industry for over ten years as an academic researcher, Jonathan identified the market opportunity for supplying high-quality antibodies to support protein interaction studies, and in 1998, founded Abcam with David Cleevely and Professor Tony Kouzarides. Jonathan is an experienced entrepreneur and investor and is passionate about supporting UK life science and high-tech start-ups. He has provided considerable investment and support to over 30 companies and has assisted three IPOs in joining AIM. A non-executive director of Horizon Discovery Group plc, Frontier Developments plc, GeoSpock Ltd and chairman of Axol Bioscience Ltd and PhoreMost Ltd. Lucy Norcliffe-Kaufmann, University School of Medicine, New York, United States Lucy Norcliffe-Kaufmann received her PhD in cardiovascular physiology from the University of Leeds in England. She joined New York School of Medicine in 2007, where she is currently Assistant Professor of Neuroscience and Neurology and Associate Director of the Dysautonomia Center. Her research focuses on the function of the autonomic nervous system in neurological disorders. She has described how the founder mutation in the IKBKAP gene interrupts the development of mostly afferent pathways in patients with familial dysautonomia and the physiological consequences of this abnormality. She conducted the seminal clinical studies that defined the autonomic phenotype in familial dysautonomia, which translated into successful new treatment strategies. She completed the first randomized clinical trial in familial dysautonomia that provided evidence that symptoms of excessive sympathetic activation can be treated by enzyme inhibitors that block the synthesis of catecholamines. Her work has been published in Neurology, Annals of Neurology, Brain, and Progress in Neurobiology. She is on the Editorial Board of Clinical Autonomic Research and on the Board of Directors of the American Autonomic Society. Her research work is supported by the US National Institutes of Health (NIH), the Food & Drug Administration (FDA), the Michael J Fox Foundation, the MSA Coalition, and the Dysautonomia Foundation. Bwee Tien Poll-The, Pediatric Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands Bwee Tien Poll-The, Academic Medical Center, University of Amsterdam, The Netherlands. Bwee Tien Poll-The, MD, PhD, is Professor of Pediatric Neurology at the Academic Medical Center Amsterdam, Division of Pediatrics and Division of Neurology. Her principal research focus is on neurometabolic diseases, especially the Peroxisomal Disorders. She directs the mutlidisciplinary Expert Center "Dutch Center for Peroxisomal Disorders".
12EuroSciCon Ltd. Registered in England and Wales, Company number: 4326921, Trading Address: Euroscicon Ltd, Highstone House, 165 High Street, Barnet, Herts.
EN5 5SU, UK. Registered Office: 47 High Street, Barnet, Herts, EN5 5UW, UK
Germaine Pierre, UHBT, Education Centre, Bristol, United Kingdom Dr. Pierre is a consultant in inherited metabolic disorders and has worked in this field for over 8 years. She did her specialist training in the diagnosis, care and management of metabolic patients at the Birmingham Children’s Hospital. She joined the University Hospitals Bristol NHS Foundation Trust in August 2009 to establish the South West regional service for paediatric patients. Since its conception, she has established an outreach based, shared care service, working with local teams to facilitate patients receiving specialist care closer to home. Martino Picardo, Stevenage Bioscience Catalyst, Stevenage, Herts, United Kingdom Martino is the CEO of the Stevenage Bioscience Catalyst an ambitious concept to develop an Open Innovation Science Park for the Life Sciences sector at the GSK site in Stevenage. Martino has a PhD in Biochemistry from Cardiff University and spent 4 years at Baylor College of Medicine, Houston, TX in Cardiovascular research. Martino joined Amersham International in 1991 and subsequently went on to manage the R&D Technology Transfer Group, based in Cardiff and developing high throughput screening technologies for the Pharmaceutical sector. Following the merger of Amersham with Pharmacia Biotech, Martino became the Science Director for the Cardiff site, Martino then became Managing Director of UMIC and MICL and was a Board member of UKBI. Martino was also acting Chairman for a start-up company, sri Forensics Ltd (2011-2014) and has previously been on the Board of Cartesian Technologies,. Most recently, Martino has also been appointed to the Life Science Wales Hub Board as a Non –Executive Director Shamima Rahman, UCL Institute of Child Health, London, United Kingdom Shamima Rahman is GOSHCC Professor of Paediatric Metabolic Medicine at the UCL Great Ormond Street Institute of Child Health (GOSICH), and honorary consultant at Great Ormond Street Hospital for Children, London. She trained in Medicine at Oxford University, and in Paediatric Metabolic Medicine at Great Ormond Street Hospital, London. Professor Rahman established the Mitochondrial Research Group at GOSICH in 2000, with a particular focus on discovery of the molecular basis of mitochondrial disease and development of novel therapies for these currently incurable disorders. Her research group has discovered several nuclear genes responsible for mitochondrial disease. Professor Rahman is an Editor of the Journal of Inherited Metabolic Disease, a Senior Editor of the Annals of Human Genetics and an Officer of the Society for the Study of Inborn Errors of Metabolism’s Education and Training Advisory Committee. She sits on the Scientific Advisory Boards of the French Muscular Dystrophy Association (AFM-Telethon) and the Lily Foundation. Maja Tarailo-Graovac, Centre for Molecular Medicine and Therapeutics, Vancouver, Canada Dr. Maja Tarailo-Graovac is a Research Associate at BC Children’s Hospital in the TIDE-BC and Omics2TreatID team, developing applied genome analysis approaches which utilize next generation sequencing (NGS) advances and facilitate their translation into clinical practice. She received her B.Sc. degree in Biochemistry in 2002 and Ph.D. degree in Medical Genetics in 2007, both from the University of British Columbia. Her post-doctoral training in genomics and bioinformatics at the Simon Fraser University was supported by CIHR and Fanconi Canada Fellowship. Oliver Timmis, AKU Society, Cambridge, United Kingdom Oliver Timmis is the Head of Projects for the AKU Society, an entrepreneurial patient organisation supporting those diagnosed with a rare disease, alkaptonuria (AKU). Oliver leads on funding applications for new projects, allowing for the creation of a National AKU Centre for UK patients, and international phase III clinical trials called DevelopAKUre. He graduated with a BA(hons) in Natural Science from Cambridge University. Oliver volunteers at Eurordis on their DITA (Drug Information, Transparency and Access) taskforce, sits on the Patient Advisory Council at the RD Connect registries project, and is a member of the Patient-centered Special Interest Group at ISPOR.
13EuroSciCon Ltd. Registered in England and Wales, Company number: 4326921, Trading Address: Euroscicon Ltd, Highstone House, 165 High Street, Barnet, Herts.
EN5 5SU, UK. Registered Office: 47 High Street, Barnet, Herts, EN5 5UW, UK
Robert M. Tanguay, Dept Biologie moléculaire, Biochimie médicale & pathologie, Medical School, Université Laval, Québec, Canada PhD Laval (1970), postdoctoral studies at Karinlinska Institutet. (1971-72). Visiting professor at EMBL (Heidelberg), University of Munich, AIST (Tsukuba Japan), University of Lyon, University of Kyoto, and Honorary professor at Huazhong University of Sciences and Technology, Tongji Medical College (Wuhan, PRC). Over 225 publications and 75 lectures at International Meetings President Cell Stress Society International Roshni Vara, Evelina Children’s Hospital, St Thomas’ Hospital, London, UK Dr Vara trained in children's liver disease at King’s College Hospital and went on to train in paediatric inherited metabolic diseases before becoming a consultant in 2011. Bruno Vogt, Inselspital, University Hospital of Bern, Bern, Switzerland Medical School in Geneva, Fribourg and Paris. Training in nephrology and renal physiology. Since 2012 Head and Chairman of the Department of Nephrology, Hypertension and Clinical Pharmacology. Main research interest: steoidomics, renal physiology and mechanisms of renal sodium retenion, hypertensionre search, and funcitonal Renal Imaging by fRMI. Clara van Karnebeek, University of British Columbia, Vancouver, Canada Clara van Karnebeek, MD PhD FCCMG, is an Assistant Professor at the University of British Columbia, and works as certified pediatrician and biochemical geneticist at BC Children's Hospital in Vancouver. She is a Scientist at the Centre for Molecular Medicine and Therapeutics. In the TIDE-BC program Clara integrates clinical work with research to promote early diagnosis and treatment of neurometabolic diseases in children with intellectual developmental disorders. Her international team applies genomic and metabolomics to discover novel genetic conditions amenable to treatment. She is Director of the CAUSES genomics clinic and has developed digital tools to enhance rare disease care. Catherine Williamson, King’s College London, London, United Kingdom Catherine Williamson is Professor of Women’s Health at King’s College London and Honorary Consultant Obstetric Physician at St Thomas’ HospitalHer principal research focus is on the maternal and fetal aetiology and outcomes of intrahepatic cholestasis of pregnancy and other gestational metabolic diseases. She is part of the UK team running a clinical trial to find the best treatments. She also runs a research programme investigating gestational signals that influence alterations in lipids, glucose and bile acids in pregnancy. The group also focusses on the influence of intrauterine environment on the subsequent health of the offspring.
14EuroSciCon Ltd. Registered in England and Wales, Company number: 4326921, Trading Address: Euroscicon Ltd, Highstone House, 165 High Street, Barnet, Herts.
EN5 5SU, UK. Registered Office: 47 High Street, Barnet, Herts, EN5 5UW, UK
ABOUT THIS EVENT
Discussion Sessions
The discussion sessions are an opportunity for informal questions and answers. This is an ideal opportunity to get advice and opinion from experts in this area. This session is not for questions about specific talks, which can be asked after the speaker’s session, but for discussing either general topics or specific issues. There are three ways you can ask questions: 1. Before the session you can submit your question to Euroscicon staff at the registration desk, 2. Before and during the session you can submit a question or comments, by email, which will be provided on the day of the event 3. During the session you can put your hand up and join in
Session breaks
All breaks and registrations will take place in the exhibition area where there will be lunch and refreshments. Please try to visit all the exhibition stands during this event. Not only do our sponsors enable Euroscicon to keep the registration fees competitive, but they are also here specifically to talk to you
Lunch
We have a number of dishes that are gluten free
We have a range of vegetarian dishes which are separated from the meat and fish dishes
We have a number of dishes that are dairy free
Please note that all food has been prepared in an environment where nuts may be present.
Missing Speakers
It is unfortunate that occasionally a speaker cannot attend, most usually due to not getting visas granted, unforeseen personal events or illness. Whilst we do everything possible to ensure that our speakers are present at the event we apologise in advance if you were at a session where a speaker could not attend. We always try to keep our agendas as up to date as possible, however if a speaker cancels the night before an event or on the day, there is little we can do to rectify this.
15EuroSciCon Ltd. Registered in England and Wales, Company number: 4326921, Trading Address: Euroscicon Ltd, Highstone House, 165 High Street, Barnet, Herts.
EN5 5SU, UK. Registered Office: 47 High Street, Barnet, Herts, EN5 5UW, UK
FREQUENTLY ASKED QUESTIONS ABOUT OUR EVENTS
Is the delegate list available?
Yes this is available to everyone who attends the event and our sponsors.
It is available in real time. To access the list please just log into your registration details or use the QR code
on right of the agenda card which is provided on the day of the event.
You will not be included in this list if you have opted out and you can do this by logging into your
registration details. This list will not be sold or ever give out to third parties.
Can I have the speakers’ slides?
We cannot give out the slides from our speakers’ presentations as they are deleted immediately after each
event. If you require a particular set of slides, please approach the speaker. We will however have a
meeting report and you will be emailed when this report is published.
Can I have a notepad?
Notepads and pens are provided in the delegate bags and at the registration desk.
How can I keep up to date with Euroscicon Events?
To keep updated on our events and other Life Science News, please sign up for our newsletter at
www.lifescienceevents.com
I don’t want my photograph on any Euroscicon promotional material
Please let our tech person know.
Is there WIFI?
Yes, please ask registration for log in details.
Can I have a CPD/ CME certificate?
CPD certificates will be available in the exhibition hall after lunch.
Please remember that EuroSciCon is a small independent company with no subsidies from society
memberships or academic rates for venues. We try to be as reasonably priced as possible and our delegate
rates are substantially lower than comparable commercial meeting organisations
Personal belongings
Please take care of all your personal belonging as Euroscicon cannot be held responsible if an item goes
missing from the lecture theatre or the exhibition hall.
16EuroSciCon Ltd. Registered in England and Wales, Company number: 4326921, Trading Address: Euroscicon Ltd, Highstone House, 165 High Street, Barnet, Herts.
EN5 5SU, UK. Registered Office: 47 High Street, Barnet, Herts, EN5 5UW, UK
MEDIA SPONSORS
MAJOR SPONSOR
