September 15 - 17, 2016
Institute of Medical Genetics, Division of Cancer & Genetics, School of Medicine, Cardiff University
Angus studied Medical and Natural Sciences at Cambridge University, taking his BA Part II in Genetics, and then qualified in Medicine from Oxford University. After registration, he worked in General Medicine and then Paediatrics. He studied the clinical and molecular genetics of ectodermal dysplasia in Cardiff and then worked in clinical genetics and paediatric neurology in Newcastle upon Tyne, developing an interest in Rett syndrome and neuromuscular disorders. He returned to Cardiff in 1989 as Senior Lecturer in Clinical Genetics and is now Professor in Clinical Genetics.
Angus has been custodian of the British Isles Rett Syndrome Survey since 2006 and leads the Cardiff Rett Syndrome Research Group and the Cardiff Rett Syndrome clinic, which was established more than ten years ago. Active projects include molecular research into CDKL5 and FOXG1 variants of Rett syndrome; in collaboration with colleagues from Bristol, the group also wishes to establish clinical trials for the treatment of the autonomic dysfunction in Rett syndrome and refine the outcomes measures for assessing interventions in Rett syndrome.
Angus has also maintained his interest in ectodermal dysplasia and has developed further interests in genetic screening, the genetic counselling process and the social and ethical issues around human genetics. He is engaged in a clinical trial of treatment for ectodermal dysplasia. He also represented the Chief Medical Officer for Wales on the Human Genetics Commission and contributes to discussions of policy and ethics in the UK (British Society for Genetic Medicine; Nuffield Council on Bioethics) and Europe (European Society of Human Genetics). He has (co)authored and edited seven books, including “Genetic Testing: ” (2011 - jointly with Michael Arribas-Ayllon and Srikant Sarangi). He established and directs the Cardiff MSc course in Genetic Counselling and contributes to teaching of MB and BSc students and he has supervised several doctoral (PhD and MD) students.
Head of Disability Health and Wellbeing, Telethon Kids Institute, Perth, Western Australia
Dr Jenny Downs is a physiotherapist and now researcher since completing her PhD in 2003. Always interested in research, she previously conducted two randomised controlled, one in her clinical career, prior to beginning work in 2005 with the Child Disability Group at the Telethon Kids Institute in Perth. Overall, she is working towards improving our understanding about disability in childhood and outcomes for affected children and their families. Firstly, she is investigating rare disorders including Rett syndrome, the CDKL5 Disorder, the MECP2 Duplication Syndrome, Duchenne muscular dystrophy and Early Onset Scoliosis, disorders that each has devastating impacts on affected children and their families. She is working to build and maintain disorder-specific databases that can provide the data to understand their natural history. Secondly, she is developing a quality of life measure for children with intellectual disability which will enable subsequent high quality studies on what factors contribute to the best quality of life for these children and how we can improve their quality of life. Thirdly, she is working to identify new intervention opportunities including environmental enrichment for young girls with Rett and a comprehensive investigation of clinical outcomes following gastrostomy for children with feeding difficulties.
Research Unit iDN, interdisciplinary Developmental Neuroscience, Institute of Physiology, Center for Physiological Medicine, Medical University of Graz, Graz, Austria
Christa Einspieler got her degree in Physiology and Psychology at the University of Graz, Austria. She has been working in behavioural analysis for over 30 years and received special training inter alia at the University of Groningen, the Netherlands (Heinz Prechtl). She is currently Professor in Physiology at the Medical University of Graz. Her main research topics are the ontogeny of behaviour, fetal movements and motor development in preterm, term and young infants. She is author or co-author of more than 120 scientific papers in indexed journals (SCI/SSCI/PUBMED), has contributed to more than 25 books from international publishers, and published two monographs on fetal and early motor behaviour (Clin Dev Med 167, Clin Dev Med 189).
Georg August University Göttingen, Department of Padiatrics and Pediatric Neurology, Faculty of Medicine
International Rett Syndrome Association
Kathy Hunter founded the International Rett Syndrome Association after her daughter became the first child to be diagnosed with Rett syndrome in the USA in 1983. She led the IRSA for twenty-five years before retiring in 2008. Other work includes several years in special education, the Board of Directors of the National Organization of Rare Disorders, a Congressional appointment to the National Advisory Neurological Disorder and Stroke Council, an appointment to the Leadership Council of WE MOVE, as well as serving on the Child Neurology Foundation Advocacy Committee and the Rare Diseases Clinical Research Network. Mrs. Hunter testified before the U.S. Congress to increase funding for research on Rett syndrome for more than two decades, whichresulted in allocations of more than $70 million. Her publications include The Rett Syndrome Handbooks I and II, and Raindrops and Sunshine. Mrs. Hunter’sdevotion to the Rett syndrome cause is deeply inspired by her daughter, Stacie, now 42, who lives at home and brings continuing love and joy to her family in Maryland, USA.
“It has been an honor and privilege to educate, inform and motivate others to work toward a richer life and a better future for families whose lives are changed forever by the diagnosis of Rett syndrome. At the heart of my commitment is the remarkable reward of coming to know and admire so many other families who demonstrate their extraordinary resilience in the face of adversity, turning tragedy to triumph as they overcome a multitude of daily challenges. This, of course, is made possible by the incredible courage, strength and determination of the Silent Angels in our lives whose inner voices lighten the burden and brighten our lives with their many blessings.”
Kennedy Krieger Institute and Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
Mike Johnston is a Professor of Neurology, Pediatrics and Physical Medicine and Rehabilitation at the Johns Hopkins University School of Medicine in Baltimore and the Chief Medical Officer and Executive Vice President of the Kennedy Krieger Institute, where he also holds the Blum Moser Endowed Chair for Pediatric Neurology named for Hugo Moser. Mike attended medical school at the University of Pittsburgh and then came to Hopkins for residencies in pediatrics and pediatric neurology. His first faculty job was at the University of Michigan in Ann Arbor, and after 8 years he returned to his current post at Kennedy Krieger and Hopkins. His laboratory works on mechanisms of injury in the developing brain, especially the impact of excitotoxicity mediated by glutamate and his research includes both laboratory work and studies in the nursery on neuroprotection for hypoxic-ischemic brain injury. His work with Rett syndrome began through the influence of Professor Sakku Naidu who was beginning to study postmortem brain in RTT in the 1990’s. He became interested in Dr. Naidu’s work with RTT through many discussions with her and observing patients. His interest grew as he and Dr. Naidu developed hypotheses about the apparent hyperactivity in the girls and the possibility that glutamate mediated excitotoxicity and a defect in synaptic plasticity might play a role in the pathogenesis of RTT. This collaboration has also included Dr. Mary Blue who is also very interested in the neurobiology of Rett syndrome.
Center for Translational Research, Greenwood Genetic Center and Department of Neurology, Boston Children’s Hospital
My pathway in the Rett syndrome field
I had the fortune to be introduced to the Rett syndrome field by Hugo Moser, when I was beginning to work on my NIH career award in the early 90s. It led to a nice transition from my basic science search for genes involved in intellectual disability to a more clinically oriented focus that has been central in my career. It also opened the door to a field of very committed clinicians and researchers, both at my institution at the time (the Kennedy Krieger Institute) and many others throughout the world, as well as wonderful families doing everything humanly possible to improve the lives of their daughters. Over time, my initial bench work on the neuropathology and neurobiology of Rett syndrome evolved into neuroimaging and behavior, leading eventually into clinical service and drug trials, particularly after my move to Boston Children’s Hospital in 2012. An important event in this Rett pathway was my coordination role for the consortium RettSearch, which allowed me to have even more contact with my colleagues overseas. Fond memories of two pioneers and giants in the field, Bengt Hagberg and Masaya Segawa, will be always with me. There are too many to thank for their kindness and help in my attempts to improve the quality of life of girls and women with Rett syndrome.
Telethon Kids Institute, University of Western Australia, Perth, Western Australia
Associate Professor Helen Leonard has qualifications in medicine and public health and is a Principal Research Fellow at the Telethon Kids Institute in Western Australia. For twenty years her clinical practice involved the management of children and adults with intellectual disability and rare diseases. During this time the major need for epidemiological, clinical and multidisciplinary research in this area became obvious. She has therefore taken a leading role in developing a research infrastructure to study intellectual disability generally as well as specific disorders like Rett syndrome and Down syndrome. In 1992 she first established the internationally unique population-based Australian Rett Syndrome Database and has maintained this register since that time. In 2002 she set up the International Rett Syndrome Foundation Phenotype Database, InterRett, which has now collected data on over 2000 individuals from 48 countries.
Since commencing active research in 1998, she has co-authored over 200 journal articles as well as 12 book chapters and eight reports. On the topic of Rett syndrome she is one of the most highly published authors over the last decade. Her strong collaborative approach has been evident throughout her career. She has previously used a Delphi approach to bring together from across the globe experts from different specialties to develop guidelines for clinical management.
Rett UK, European Association of Rett Syndrome (RSE)
My involvement with Rett syndrome began when my younger daughter Clare was diagnosed with the disease over 30 years ago. I founded the charity Rett UK in 1985.
My work in the UK led me to meet parents and professionals around Europe. I am one of the Founder members of Rett Syndrome Europe and am currently on the Board of this organisation.
I have served as a Non-Executive Director on the Board of two NHS (National Health Service) Trusts; for Primary Care and Mental Health/Learning Disabilities. I currently work as a lay member for the Health and Care NHS Trust.
In 1997 I was awarded the MBE (Membership of the Order of the British Empire) for Services to Health
In May this year (2016) I was elected by EURORDIS (Rare Diseases Europe) members to be an ePAG (European Patient Advocacy group) representative to serve on the Board of the proposed ERN (European Reference Network) for the disease group “Rare Congenital Malformations and Intellectual Disability”
Department of Neurosciences, University of California, San Diego, USA
Jeffrey Neul M.D., Ph.D. is the Division Chief of Child Neurology, Professor and Vice Chair in the Department of Neurosciences at the University of California, San Diego and Rady Children's Hospital-San Diego. After receiving his undergraduate degree from the University of Illinois and his medical degree and Ph.D. in Developmental Biology from the University of Chicago, Dr. Neul completed a residency in pediatric neurology at Baylor College of Medicine, Houston, TX. During clinical training, he nurtured a long-standing interest in neurodevelopmental disorders and became interested in Rett syndrome (RTT), ultimately doing a post-doctoral fellowship in the laboratory of Dr. Huda Zoghbi at Baylor. Currently he is deeply involved in both clinical as well as basic science research understanding the nature of RTT and developing therapeutic strategies to treat this disorder. Dr. Neul currently holds research funding from the U.S. National Institutes of Health and the International Rett Syndrome Foundation, and was the principal investigator on the first of its kind industry sponsored clinical trial of a potential disease modifying treatment in Rett syndrome, sponsored by Neuren Pharmaceuticals and the International Rett Syndrome Foundation. Dr. Neul serves on the medical advisory committee for the International Rett Syndrome Foundation, the International FoxG1 Foundation, and is on the executive committee for RettSearch.
Neurological Clinic for Children, Tokyo, Japan
Completing my post graduate training in pediatrics (Mayo Clinic, Rochester Minnesota), child neurology (Washington DC Children’s Hospital, Washington DC) and neurology (Georgetown University, Washington DC) in the U.S.A., I was given the opportunity to work as the assistant director at the Segawa Neurological Clinic for Children, Tokyo Japan in 1975 two years after its establishment by Dr. Masaya Segawa.
The clinic work covered the wide range of child neurology. Among those the care and clinical research on Rett syndrome was one of the main theme.
What Dr. Segawa aimed was to understand the diseases at neuron level and find the way of treatment. I learned very much from him. We also practiced not only child neurology, but also life-long neurology.
Dr. Segawa passed away in December 2014, and the clinic automatically closed because it was his private clinic.
On August 1, 2015, I opened my clinic, Yoshiko Nomura Neurological Clinic for Children. I will continue my work and mission as a medical professional.
Civitan International Research Center, University of Alabama at Birmingham, Birmingham, AL, USA
Alan Percy, MD is a pediatric neurologist at the University of Alabama at Birmingham in Birmingham, AL, USA. Following medical school at Stanford University in Stanford, California, he trained in Pediatrics there and in Child Neurology at Johns Hopkins in Baltimore, Maryland. Although engaged ath the time in laboratory studies of complex lipid biochemistry in the CNS, in 1983 he along with Dr. Mary Coleman in Washington, DC and Dr. Vanja Holm in Seattle, Washington were the first physicians to recognize Rett syndrome (RTT) in the United States. In 1984, Dr. Hugo Moser, Dr. Holm, and Dr. Percy attended the RTT conference in Vienna organized by Dr. Andreas Rett. Thereafter, Dr. Percy actively pursued clinical and laboratory studies in RTT, establishing centers at Baylor College of Medicine and later at the University of Alabama at Birmingham where he is the principal investigator of the Rett syndrome and Rett-related disorders Rare Disease Clinical Research Consortium. This Natural History Study of RTT now includes more than 1300 participants. He encouraged Dr. Huda Zoghbi to pursue genetic studies in RTT leading to identification of mutations in MECP2. He currently collaborates actively with Dr. Michelle Olsen and Dr. Lucas Pozzo-Miller in basic approaches to RTT at UAB. Since 1983, he has authored more than 120 scientific papers, chapters, and reviews on RTT. He remains committed to finding meaningful approaches to effective treatment for this unique neurodevelopmental disorder.
Netherlands Rett Expertise Centre- GKC, Maastricht University Medical Centre, Maastricht, the Netherlands
Eric E.J. Smeets, obtained his medical degree at the Catholic University of Leuven, Belgium. Trained as a paediatrician in developmental neurology and rehabilitation at the University Hospital in Leuven, he worked in the Centre for Human Genetics, University Hospital Gasthuisberg in Leuven, Belgium and in the Department of Clinical Genetics of the Maastricht University Medical Centre in Maastricht, the Netherlands. He has a long standing clinical experience with developmental disorders, genetic syndromes and intellectual disabilitie in children and adults. He obtained his PhD at the University of Maastricht in 2005 on the subject of Rett syndrome and is the author of several articles on Rett syndrome and MECP2 related disorders. In 2012 the multidisciplinary Rett Expertise Centre at the Maastricht University Medical Centre became operational under his impulse and leadership.
Gillian Townend, B.Med.Sci.(Speech)(Hons), M.Phil., CertMRCSLT
Gill Townend is a researcher at the Rett Expertise Centre Netherlands in Maastricht which is recognised as the national reference centre for Rett syndrome for the Netherlands. Prior to this she worked as a Speech-Language Pathologist in the UK, specialising in augmentative and alternative communication and speech generating devices. In October 2013, she organised the communication track of the 3rd European Rett Syndrome Conference Maastricht and is currently joint lead with prof. dr. Leopold Curfs of an international project funded by Rettsyndrome.org to develop clinical guidelines for the management of communication in individuals with Rett syndrome (RTT). Her research interests include: early (pre-diagnosis) communication development in typical and atypical RTT (in collaboration with Dr. Peter Marschik, MU Graz, Austria and Karolinska Institutet, Stockholm, Sweden); eye tracking and the functional use of eye gaze for communication; European policy in relation to rare diseases and its implications for RTT; and the establishment of clinical and research-based networks and collaborations both within and outside of Europe.
Faculty of Psychology, University of Vienna, Austria
Germain Weber, Ph.D., born in Luxembourg, is professor of Psychology at the University of Vienna, Faculty of Psychology, Department of Health, Development and Intervention. He is acting as dean of the Faculty since October 2008. Professor Weber holds an associate professorship at the Université de Luxembourg. Further, Dr. Weber is since 2004 president of “Lebenshilfe Austria”, the major Austrian NGO organization offering systems of support for over 10.000 persons with intellectual and developmental disabilities and advocating for and with them on a national and European level. Dr. Weber’s research is focusing on health and mental health issues both in people with intellectual and developmental disability and on older people. In 2000 Dr. Weber was awarded with the “International Award for Significant Contribution to Research, Policy and Practice in the Field of Intellectual Disability” offered by the “American Association on Intellectual and Developmental Disabilities”. Since 2008 Dr. Weber is serving for the “International Association on Scientific Studies in Intellectual and Developmental Disabilities” (IASSIDD), actually as a member of the Executive Board with the function of Vice-President Europe.
Howard Hughes Medical Institute, Baylor College of Medicine, and Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital, USA
Huda Zoghbi, M.D., is Professor of Pediatrics, Neurology, Neuroscience, and Molecular and Human Genetics at Baylor College of Medicine and serves as an Investigator with the Howard Hughes Medical Institute. She is also the founding Director of the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital.
Dr. Zoghbi’s interests range from neurodevelopment to neurodegeneration. Her discovery that Spinocerebellar Ataxia type 1 is caused by expansion of a polyglutamine tract and that such expansion leads to accumulation of the mutant protein in neurons has had profound ramifications since many late-onset neurological disorders involve similar accumulations of disease-driving proteins. Zoghbi’s work in neurodevelopment led to the discovery of the gene Math1/Atoh1 and to showing that it governs the development of several components of the proprioceptive, balance, hearing, vestibular, and breathing pathways. Zoghbi’s group also discovered that mutations in MECP2 cause the neurological disorder Rett syndrome. We now know that mutations in this gene are responsible for a broad spectrum of disorders ranging from mild cognitive disabilities to autism. Her lab is focused on understanding how loss of MeCP2 alters neuronal function to cause behavioral abnormalities. Zoghbi trained many scientists and physician-scientists and is a member of several professional organizations and boards. Among Dr. Zoghbi’s honors are the Gruber Prize in Neuroscience, the Pearl Meister Greengard Prize from Rockefeller University, the Scolnick Prize from MIT, and the March of Dimes Prize in Developmental Biology. In 2000 she was elected to the Institute of Medicine, and in 2004 she was elected to the National Academy of Sciences.