Genetics, Mechanisms and Model Systems

Genetics, Mechanisms and Model Systems


  


Genetics, Mechanisms and Model Systems

  1. Genetic causes and molecular mechanisms in CdLS (part I)
  2. Genetic causes and molecular mechanisms in CdLS (part II)
  3. How can animal and cellular models help us understand Cornelia de Lange syndrome?

Questions

Meet our experts

We have done our best to invite those from around the world to give you the insights you hope for. Professors, teachers, experienced parents and siblings will discuss the topics for the best quality of life possible. Our motto; TOGETHER!

Frank Kaiser

Frank Kaiser


Professor of Functional Genetics and Human Genetics, Institute of Human Genetics, University of Lübeck, Germany

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. 

Member of the Scientific Advisory Council of the CdLS World Federation.


David FitzPatrick

David FitzPatrick


Professor of Paediatric Genetics, MRC Human Genetics Unit, Edinburgh, UK

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. 

Member of the Scientific Advisory Council of the CdLS World Federation.


Matt Deardorff

Matt Deardorff


MD PhD, Associate Medical Director, Roberts Individualized Medical Genetics Center at Children's Hospital of Philadelphia, USA

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. 

Member of the Scientific Advisory Council of the CdLS World Federation.


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