Meet our experts

  

Meet our experts

We are doing our best to invite those from around the world that can give you the insights you hope for. Both professors, teachers, experienced parents or siblings will discuss the topics for the best quality of life possible. Our motto; TOGETHER!

Frank Kaiser

Frank Kaiser

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 analyzes 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. 

member of the scientific advisory council of the CdLS World Federation.

David FitzPatrick

David FitzPatrick

is a professor and 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. 

member of the scientific advisory council of the CdLS World Federation.

Matt Deardorff

Matt Deardorff

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. 

member of the scientific advisory council of the CdLS World Federation. 

Angelo Selicorni

Angelo Selicorni

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 and wrote many articles and other publications on CdLS and other genetic syndromes and is pediatric expert on gastro-oesofageal reflux disease in CdLS

He is a pediatrician and medical geneticist working in a pediatric department at ASST Lariana, Como, Italy. 

medical director of the Italian CdLS support group, the past president and still board member of the Scientific Advisory Council of the CdLS World Federation. 

Antonie Kline

Antonie Kline

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. 

medical director of the Cornelia de Lange Syndrome Foundation USA and board member of the scientific advisory council of the CdLS World Federation. 

Sylvia huisman

Sylvia huisman

is a clinical supervisor of the specialist training program at Prinsenstichting and a teacher at the Erasmus University Medical Center, Rotterdam. She did a PhD on Self-injurious Behaviour in Cornelia de Lange syndrome

She works at Prinsenstichting, at the Amsterdam Expertise Center for Neurodevelopmental Disorders (including Cornelia de Lange syndrome) at the Amsterdam University Medical Center, and at the Centre for Consultancy and Expertise (CCE). 

She is a Physician for Individuals with Intellectual Disabilities (AVG). She received her specialist training at the Prinsenstichting and at the Erasmus University Medical Center, Rotterdam. 

medical director of the Dutch CdLS group and president of the scientific advisory council of the International CdLS Federation.

Chris Oliver

Chris Oliver

is currently researching early intervention, 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 at the University of Birmingham and Director of the Cerebra Centre for Neurodevelopmental Disorders.

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. 

Editor in Chief for the Journal of Intellectual Disability Research. He is a member of the scientific advisory council of the CdLS World Federation.

Paul Mulder

Paul Mulder

specializes 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 behavioral 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.” 

He is behavioral advisor of the Dutch CdLS group and board member of the scientific advisory council of the CdLS World Federation.

Inge van Balkom

Inge van Balkom

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 is 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. 

She is a member of the scientific advisory council of the CdLS World Federation.

Peter Martin

Peter Martin

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 since 2009 at the Séguin clinic and since 2013 additionally a Medical Centre for Adults with Disabilities (MZEB).

Being medical director at Kehl-Kork, he also teaches students at Freiburg University faculty of medicine since 2005 and since 2014 is professor and member of the faculty.

Furthermore, he is one of the editors of the specialist journal „Inklusive Medizin“, 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“.

He is a member of the scientific advisory committee of the German „Arbeitskreis Cornelia de Lange Syndrom“.

Peter Gillett

Peter Gillett

Peter is a Consultant Paediatric Gastroenterologist at the Royal Hospital for Sick Children, Edinburgh Scotland. His 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 has an interest in GI problems in neurodevelopmental disorders and is a specialist advisor to Cornelia de Lange UK and Ireland and the CdLS World Federation and is the UK Medical Director. He was a member of the international guideline group and helped develop the guidelines for management of medical and surgical issues in CdLS published in 2018. His goal is to help improve other health care professional’s awareness of CdLS specific issues and generic GI problems in neurodisability.

Gabriele Gillessen-Kaesbach

Gabriele Gillessen-Kaesbach

Feliciano Ramos

Feliciano Ramos

He is a Pediatrician and Clinical Geneticist (ABMG-USA Certified) working at the University Hospital “Lozano Blesa” in Zaragoza, Spain, were he is the Chief 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 and of the Spain´s National Reference Center in CdLS. 

He is member of the Scientific Advisory Committee of the Spanish Association of Families with CdLS and of the Scientific Advisory Council of the International CdLS Federation. He has been the PI of several competitive research projects about CdLS.

Anne-Marie Bisgaard

Anne-Marie Bisgaard

Ask Anne-Marie for details...

She is member of the Scientific Advisory Committee of the Danish Association of Families with CdLS and of the Scientific Advisory Council of the International CdLS Federation.

Armand Bottani

Armand Bottani

Ask Armand for details...

He is member of the Scientific Advisory Committee of the French Association of Families with CdLS and of the Scientific Advisory Council of the International CdLS Federation.

Marleen Janssen

Marleen Janssen

Ask Marleen for details...

Ask Marleen for details

Jolanta Wierzba

Jolanta Wierzba

Ask Jolanta for details...

Ask Marleen for details

Bernadette Dalingwater

Bernadette Dalingwater

Bernadette...

Bernadette is sister to Michael (CdLS)

Jürgen Kegel

Jürgen Kegel

Father of Christian

Jürgen is chairman of the German 'Arbeitskreis Cornelia de Lange Syndrom e.V.' 

Gerritjan Koekkoek

Gerritjan Koekkoek

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.

Gerritjan is currently past-chairman in the CdLS World Federation Council executive team and chairman of the dutch 'vereniging cdls' 

 

About the website contents

All of the information contained within these questions and answers is for education purposes only. The place to get specific medical advice, diagnoses, and treatment is your doctor. Use of this site is strictly at your own risk. If you find something that you think needs correction or clarification, please let us know, contact see below.