Donders Institute for Brain, Cognition and Behaviour
Zoek in de site...

Theme 3: Plasticity and Memory

Genomic profiling in intellectual disability

Intellectual disability (ID) is defined by an IQ level below 70 and can be divided into mild (70-50), moderate (50-30) and severe (<30) level. It occurs in 2-3 % of newborns, and affects almost ½ million people in The Netherlands. Because of lifelong severity and poor curability the impact of ID is great, and there is great need for better basic knowledge. In clinical practice only ~50% of ID patients have received a proper diagnosis in The Netherlands. Any intervention or prevention in ID will require a much better insight into its underlying causes.

Patients with intellectual disability can be divided into non-syndromic and syndromic based upon the absence or presence of additional clinical features. Genetic anomalies especially chromosome aberrations are a major cause of ID. Microscopically detectable anomalies are mostly sporadic and usually cause ID in conjunction with physical malformations (=syndromic), because they lead to relatively large genetic imbalances (duplication/deletion of many genes). Three other genetic causes of ID exist. Single gene disorders can be transmitted through the germ line either as X-linked ID, which is largely limited to males, as dominant ID, which mostly occurs in a sporadic form, and recessive ID, which mostly affects sib-pairs. Despite significant progress, however, the genetic causes of ID remain largely unknown.

Objectives

This research project aims:

  • to carefully phenotype a large cohort of patients with intellectual disability
  • to identify genomic disorders and genes causing dominant and recessive forms of intellectual disability
  • to unravel genetic networks underlying intellectual disability

Approach

Within the current project phenotypically well-characterized patients are studied with various novel strategies in order to achieve a better understanding of the genetic networks underlying intellectual disability.

  • Clinical collection and detailed phenotyping on a large scale
  • Different assay systems are used to identify the various genomic aberrations underlying intellectual disability:
    -Genome-wide deletion mapping
    -Genome-wide exome sequencing
  • Bioinformatics: towards genetic networks in intellectual disability
Contact
Name: Dr. Bert de Vries
Telephone: 024-3653678
Email: Bert.deVries@radboudumc.nl
Visiting address: Department of Human Genetics
Radboud University Nijmegen Medical Center
Geert Grooteplein 10, route 836
6525 GA Nijmegen
The Netherlands
Postal address: Department of Human Genetics
Radboud University Nijmegen Medical Center
P.O. Box 9101 / 836
6500 HB Nijmegen
The Netherlands

Key Publications

For a list of all publications see Pubmed

Links

These studies are financially supported by:


The Dutch Brain Foundation

The Netherlands Organization for Health Research and Development (ZonMW)

Back to:
Theme 3:
Plasticity and Memory

Donders
Research Group
Genomic Profiling in Intellectual Disability

Principal Investigator
Dr. L.B.A. de Vries

Group members