Together with experts and families we search, find and share with the purpose to learn, cry and celebrate. Las familias de todo el mundo buscan respuestas y apoyo. Juntos podemos hacer más. Reunir a familias y expertos de todo el mundo nos permitirá aprender, debatir y mejorar la forma de manejar los diferentes desafíos que conlleva el síndrome. Los principales profesionales expertos presentarán y discutirán contigo los temas relevantes del CdLS. Temas médicos como el reflujo gastroesofágico, cognitivos como el comportamiento y emocionales tales como enfrentar los desafíos de esta condición genética en el grupo familiar. Recibirás la información más reciente y completa disponible sobre CdLS. Te divertirás mucho, en un ambiente relajado, y podrás hablar sobre los problemas con personas que realmente te entienden porque están en la misma situación. Es muy alentador ver que no estás solo. All of us embarked on a mission after getting the diagnosis of CdLS for our child or brother or sister. We all have found some solution that could work for others as well. We share this knowledge and get together to share our emotions, our troubles but also our victories. To see the smile of CdLS Children is priceless. Families invest a great amount of energy to get the best quality of life. A lot will be consumed by the daily, lifelong care. But we have energy left over to get out and enjoy meeting with each other. Feeling part of this warm community is worth more than a 1000 words. To become an expert you need a good education. But you also need to meet people with CdLS. You need to have a certain amount of these encounters to learn about the specifics of a rare disease like CdlS. These experts are as rare as our children. The CdLS World federation has brought together the experts world wide already in 9 conferences over 20 years. To meet these experts will be great for our families. But also to meet us will be a great experience for these experts to discover more about the syndrome. We want to offer a exiting program. For our scientific friends to each sibling that wants to enjoy a few exiting days Since 2013, he has been Professor of Functional Genetics and Human Genetics at the Institute of Human Genetics at the University of Lübeck. In addition to genetic and functional analysis in the field of cohesinopathies (like Cornelia de Lange syndrome), the research of his research group focuses on molecular mechanisms in the area of genetic disorders and hereditary diseases. He studied biology at the Ruhr-University Bochum. In his doctorate and postdoctoral studies at the Institute of Human Genetics in Essen, he performed functional analysis of the transcription factor TRPS1. David has been a consultant in paediatric genetics in Edinburgh since 1994. His clinical interests are in paediatric neurodevelopmental disorders and in the identification of genetic causes of serious developmental disorders. He studied medicine at University of Edinburgh and then trained in paediatrics in Edinburgh, Bristol and Glasgow. He trained in clinical genetics in Glasgow as a Wellcome Trust Clinical Research Fellow and in Johns Hopkins Hospital in Baltimore on a Howard Hughes Medical Institute Clinical Research Fellowship. He did his PhD in Cell and Molecular Biology and is an attending physician and Associate Medical Director of the Roberts Individualized Medical Genetics Center at Children's Hospital of Philadelphia. He did his medical specialist training in Pediatrics at Children's Hospital of Philadelphia, followed by a fellowship in genetics at Children's Hospital of Philadelphia & University of Pennsylvania. He has been involved in the diagnosis and in the medical follow-up of patients with genetic syndromes like Cornelia de Lange syndrome since 1990. He is working at Telethon, has written many articles and other publications on CdLS and other genetic syndromes and is a paediatric expert on gastro-oesophageal reflux disease in CdLS. He is a paediatrician and medical geneticist working in the paediatric department at ASST Lariana, Como, Italy. Tonie's areas of expertise include evaluation of multiple birth defects and/or developmental issues and interpretation of clinical testing results. She received her medical degree and postdoctoral training in medical genetics from Jefferson Medical College, Philadelphia, PA., and clinical cytogenetics and molecular training at the Johns Hopkins University School of Medicine, Baltimore, Md. She is also a Fellow of the American Academy of Pediatrics and a Founding Fellow of the American College of Medical Genetics. She also works at the Centre for Consultancy and Expertise (CCE), specialized in complex behavior challenges. She did a PhD on Self-injurious Behaviour in Cornelia de Lange syndrome. Sylvia a teacher at the Erasmus University Medical Centre, Rotterdam. She received her specialist training at the Prinsenstichting and at the Erasmus University Medical Centre, Rotterdam. Chris is currently researching early intervention of behaviour disorders in people with severe intellectual disability and autism spectrum disorder, behavioural phenotypes in genetic syndromes and neuropsychological and behavioural assessment for people with severe intellectual disability. He is Professor of Neurodevelopmental Disorders and Director of the Cerebra Centre for Neurodevelopmental Disorders at the University of Birmingham. He was trained as a clinical psychologist at Edinburgh University before completing a PhD on self-injurious behaviour in people with intellectual disability at the Institute of Psychiatry, London. Paul specialises in assessment of children and adults with severe and complex autism spectrum disorders, especially supportive communication, social-emotional functioning, sensory information processing and cognitive development in children and adolescents with autism spectrum disorders. He is behavioural specialist at Autism Team Northern-Netherlands, Jonx, the child- and adolescent psychiatry service of Lentis Psychiatric Institute in Groningen. He did his PhD on "Cognition, self-injury and autism in Cornelia de Lange Syndrome: their mutual relationships and genetic background.” She was trained as a psychiatrist in Amsterdam and continued her training as a child and adolescent psychiatrist, including a residency in Clinical Genetics. She received her medical degree at Groningen University. She is a member of the Global Partnerships in the Epidemiology of Developmental Disabilities, and of the CDC-National Center on Birth Defects and Developmental Disabilities, Atlanta, USA. When the CdLS communities of Germany and the Netherlands decided to take on the challenge of the 2019 world conference they hoped for a great conference, Together!
Together we experience friendship, security and openness¿Por qué estamos haciendo esto?
Que aprenderás?
¿Cuáles son los beneficios?
Why we believe this conference will be good
We are families with CdLS
Energized by our children
Supported by worldwide experts
The events on this conference
Ponentes y apoyos
Frank es (MD) Molecular Genetics de la International Scientific Advisory Council (SAC), Molekulare Genetik a Institut für Humangenetik, Universität Duisburg-Essen, Universitätsklinikum Essen, (MD) wissenschaftliche Beirat a Arbeitskreis Cornelia de Lange Syndrom e.V.
David es Clinical Genetics de la International Scientific Advisory Council (SAC), Professor of Paediatric Genetics a MRC Human Genetics Unit, Edinburgh
Matt es Clinical Genetics de la International Scientific Advisory Council (SAC), MD PhD, Associate Medical Director, Roberts Individualized Medical Genetics Center a Children's Hospital of Philadelphia
Angelo es Paediatrics & Genetics de la International Scientific Advisory Council (SAC), MD, Director of Pediatric Unit a ASST Lariana Como, Coordinatore scientifico, pediatra e genetista. a Ass. Naz. di Volontariato Cornelia De Lange ONLUS
Tonie es Clinical Genetics de la Harvey Institute of Human Genetics, Greater Baltimore Medical Centre, Baltimore, Medical Director a CdLS Foundation USA, Our Staff, MD, Director of Pediatric Genetics, Harvey Institute for Human Genetics, a Harvey Institute of Human Genetics, Greater Baltimore Medical Centre, Baltimore, Medical Director a International Scientific Advisory Council (SAC)
Sylvia es Clinical Supervisor and Trainer de la Zodiak-Prinsenstichting, MD PhD a expertise centrum Cornelia de Lange syndroom, Medical Director a Vereniging Cornelia de Lange syndroom, (MD) Physician for ID, SIB & CdLS a International Scientific Advisory Council (SAC)
Chris es Behavioural Psychology de la University of Birmingham, Behavioural Psychology a International Scientific Advisory Council (SAC)
Paul es Behaviour specialist de la International Scientific Advisory Council (SAC), SAC member a Vereniging Cornelia de Lange syndroom, Behaviour specialist a Autism Team Northern-Netherlands, Jonx, the child- and adolescent psychiatry service of Lentis Psychiatric Institute
Inge es Psychiatry de la International Scientific Advisory Council (SAC), Onderzoeker Psychiatrie a University of Groningen, Psychiater a Autism Team Northern-Netherlands, Jonx, the child- and adolescent psychiatry service of Lentis Psychiatric Institute
From 2006 to date Inge has been employed as Medical Director at Autism Team Northern-Netherlands, Jonx, the child- and adolescent psychiatry service of Lentis Psychiatric Institute in Groningen.
The conference of 2019, our dream