Talere og støttemedlemmer

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.

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. 

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. 

After Peter completed his PhD in Marburg, Berlin and Munich, he specialized in neurology and psychiatry in Zürich, Heidelberg and Freiburg. Working at the Centre for Epilepsy at Kehl-Kork, he was able to establish a special department for adults with intellectual disabilities in 2009 at the Séguin clinic and additionally, in 2013, a Medical Centre for Adults with Disabilities (MZEB).

As a Medical Director at Kehl-Kork, he also teaches students at Freiburg University faculty of medicine since 2005 and has been a professor and member of the faculty since 2014 .

Furthermore, he is one of the editors of the specialist journal „Inklusive Medizin“, a member of board of directors of several specialist associations for medicine for adults with disabilities (DGMGB, MAMH and D-A-CH-Inklusive Medizin) and of the advisory committee of the foundation „Leben pur“.

Peter's training was in Newcastle and Edinburgh and the Children’s Hospital in Vancouver and took up his current post in 2001. His interests are coeliac disease, upper GI and small bowel disorders, endoscopy and constipation and its improved management, informatics, education and engagement with colleagues and families to make holistic management more consistent and responsive.

He established the SE Scotland regional paediatric coeliac service in 2001 and has been an Advisor to Coeliac UK for over 10 years and sits on their Health Advisory Council. He was a member of the Scottish Government Group developing the Gluten-Free Food Service and was a member of the NICE Coeliac Disease NG20 group, currently chairs the BSPGHAN Coeliac working group and co-leads the Scottish Government new coeliac strategy which aims to provide optimal diagnostics and ongoing management for patients with CdLS.

He is a Paediatrician and Clinical Geneticist (ABMG-USA Certified) working at the University Hospital “Lozano Blesa” in Zaragoza, Spain, were he is the Chief of the Unit of Clinical Genetics at the Service of Paediatrics. He is Full Professor of Paediatrics and the Chairman of the Department of Paediatrics at the University of Zaragoza Medical School. He has been working in CdLS since 2004. He is the Coordinator of Spain´s National Reference Center in CdLS. 

Since medical training, Leonie has worked in Paediatrics and Clinical Genetics, both in clinical care and research. She is currently subspecializing in what the Dutch call ‘Paediatrics, Hereditary and Congenital disorders’, with the ultimate goal to bring more genetic and syndrome-specific knowledge into paediatric practice. Additionally, she is coordinating the Amsterdam Expert Centre for Developmental Disorders (AECO), at which children and adults with various syndromes receive medical care and follow-up. The syndromes for which the centre was officially appointed as an expert centre are Cornelia de Lange, Marshall-Smith, Pitt-Hopkins, and Rubinstein-Taybi syndromes. However, children with Malan, Pierpont, Primrose, tricho-rhino-phalangeal, Menke-Hennekam and Wiedemann-Steiner syndrome are also followed in this clinic. She also coordinates an expert clinic for children with Marfan syndrome and related disorders.

Her research currently focuses on constructing growth charts for various syndromes including Cornelia de Lange syndrome, and on more basic research on a new syndrome that was recently called Menke-Hennekam syndrome. For the latter, she will join the laboratory of Stephen Robertson (Otago University, Dunedin) for half a year from October 2019 onwards. With the more basic research knowledge that she will obtain there, she aims to help further with the studies in Cornelia de Lange syndrome.

First trained as a paediatrician before specializing in medical genetics in Zürich and Geneva. Since his beginnings in this field, he always has had a special interest for rare disorders and the delineation of syndromes. From 1992 until 2018 he worked in the Service of Genetic Medicine at the Geneva University Hospitals, where his main activity was seeing children and adults with unclear conditions in order to try and find the cause of their problems. Since his part-retirement, he is now in charge of the consultations in the Service of Genetics of his hometown hospital. 

Marleen has been Professor at the Department of Special Needs Education at the University of Groningen in the Netherlands since 2008. She specialises in congenital (like with CdLS) and acquired deafblindness. Her research is mainly focused on intervention studies in children and adults who are congenital deafblind, which impact communication, language acquisition, development and learning. 

Innovative instructional methods are used to coach teachers, parents and support workers, improving their insights and skills for better interaction and tactile communication. Theories from developmental psychology on attachment, intersubjectivity and self-determination form the basis of these investigations which are performed in classrooms, homes and group home settings.

She has a structural collaboration with Royal Dutch Kentalis, where she worked for 25 years at the school Kentalis-Rafaël, for children with deafblindness.

Jolanta studies on the etiology, pathogenesis phenotype and improvement of the system of multidisciplinary, coordinated care of patients with rare diseases and is active on the international scientific cooperation in the field of genotype – phenotype correlation in Cornelia de Lange syndrome.

Member of the Polish Society of the Human Genetics (2018 vice President) since 2005.

Eline is an educational psychologist at Kentalis Rafael, Sint-Michielsgestel, The Netherlands, a school for children with multi sensory impairments, especially vision and hearing.

She is coordinator of the Deafblind Education Outreach Support team.

As a school they work together with the University of Groningen to develop effective interventions and make them evidence based.

Anne is an educational psychologist and part of the multidisciplinary diagnostic team of Royal Dutch Kentalis in the Netherlands. 

She has experience in ‘Hands on Assessment’ and diagnostic assessment in the broadest sense. Her expertise is in assessment with children and adults with hearing and/or visual problems, with or without accompanying impairments. Special focus is on discovering the learning potential of these people and finding ways to stimulate development in the best possible way - communication for example. All available senses can be used, depending on the abilities and preferences of the person. A couple of children with CdLS have been assessed by the diagnostic team during the last couple of years. 

Bernadette has just launched her new business: The Sibling Voice, giving a strong voice to the family member that is sometimes forgotten. 

Michael Feeney, Bernadette's brother, passed away in 2017 one week shy of his 61st birthday. Bernadette has lived the life of a sibling to someone with cdls for 52yrs. She speaks truthfully and openly about a life of challenges and joy mixed with a constant search to find balance. Bernadette runs workshops and speaks to and about being a sibling to a person with special needs. Feel free to seek her out and chat.

Jenny has been a vocal disability advocate  for over 35 years supporting CdLS families in Australia and nearby countries, taking on government policies to achieve better outcomes for individuals and successfully lobbying governments for disability accommodation within the local community.

She works part-time as Projects Manager at Genetic Alliance Australia. This umbrella support organisation strengthens families with rare genetic conditions living in rural and remote areas of NSW. People whose conditions are so rare there are no recognised groups are also included in the programs.  Backing leaders of condition-specific groups with training and information is a primary focus. 

He is father of Rai (CdLS, November 1999). Motivated to know all you need to know about CdLS he joined the dutch 'vereniging Cornelia de Lange syndroom' and became chairman of this group in 2008. In Buenos Aires at the world conference about CdLS in Argentina he was elected chairman of the CdLS World federation. 

Gerritjan is an Information Architect. Within the CdLS World federation executive council he is especially advocating the role of family members and the CdLS Patients so they are involved in Knowledge Development and sharing their experience with other family members, professionals or researchers.

Sister of Eva

Brother of Finn

Volunteer